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p3XFLAG-HELLS Q699R

Expression vector of human HELLS mutant, Q699R.

Catalog number RDB17377
Resource name p3XFLAG-HELLS Q699R
Alternative name p3XFLAG-CMV10-HELLS Q699R
Clone info. Expression vector of human helicase lymphoid specific (HELLS) mutant, Q699R, tagged with 3 x FLAG at N-terminus. This mutation corresponds to the amino acid substitution identified in an ICF4 patient and is located in the helicase C-terminal domain. Structure, see Fig. S1 of Unoki, M. et al., J. Clin. Invest., 129 (1): 78-92, 2019.
Comment Expression was confirmed by the depositor with western blottingand RT-PCR.
Vector backbone p3xFLAG-CMV-10 (plasmid)
Size of vector backbone 6.3 kb
Selectable markers Amp^r (E. coli), Neo^r (mammalian cells).
Gene/insert name human HELLS cDNA
Depositor|Developer Unoki, Motoko |
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External Database
human HELLS

          Reference sequence
            

          Distribution information

          Please check terms and conditions set forth by the depositor, which are specified in the RIKEN BRC Catalog and/or Web Catalog.
          Terms and conditions set forth by the DEPOSITOR In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of literature designated by the DEPOSITOR (Unoki, M et al. J. Clin. Invest. 129 (1), 78-92, 2019) and an acknowledgment to the DEPOSITOR are requested.
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          提供条件 利用者は、研究成果の公表にあたって寄託者の指定する文献 (Unoki, M et al. J. Clin. Invest. 129 (1), 78-92, 2019) を引用し、謝辞の表明を必要とする。
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          RDB17377 p3XFLAG-HELLS Q699R DNA solution

          Please review the QC test results indicated by check icon below as well as clone information before placing your order.

          References and tips

          Electronic file

          Original reference

          original Unoki, M., CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome. J. Clin. Invest. 129 (1): 78-92 (2019). PMID 30307408.

          Further references such as user reports and related articles (go to bottom)

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          Sequence information

          RIKEN BRC has sequenced portions of this material for quality test.
          Please review the QC test results indicated by check icon as well as clone information before placing your order.

          Test sheet RDB17377_A9Fhp1-1.pdf check

          Nucleotide sequence of a portion of this resource (if available).

          Primer: CMV-Forward
          Region: CMV pro, 3xFLAG, insert 5'
          Sequence file: RDB17377_A9Fha.seq check
          >D06399A4_A9Fh_3_CMV_Forward_B02_05_ABI24.ab1
              1 NNNNNNNNNN NNNNNNNNNN NNNNNNNNNN TGGGCGGTAG GCGTGTACGG TGGGAGGTCT
             61 ATATAAGCAG AGCTCGTTTA GTGAACCGTC AGAATTAACC ATGGACTACA AAGACCATGA
            121 CGGNGATTAT AAAGATCATG ACATCGATTA CAAGGATGAC GATGACAAGC TTGCGGCCGC
            181 GATGCCAGCG GAACGGCCCG CGGGCAGCGG CGGCTCGGAG GCTCCAGCAA TGGTTGAACA
            241 ACTGGACACT GCTGTGATTA CCCCGGCCAT GCTAGAAGAG GAAGAACAGC TTGAAGCTGC
            301 TGGACTAGAG AGAGAGCGGA AGATGCTGGA AAAGGCTCGC ATGTCTTGGG ATAGAGAGTC
            361 GACAGAAATT CGGTACCGTA GACTTCAACA TTTGCTTGAA AAAAGCAATA TCTACTCCAA
            421 ATTTTTATTG ACGAAAATGG AACAGCAACA ATTAGAGGAA CAGAAGAAGA AAGAAAAATT
            481 GGAGAGAAAA AAGGAGTCTT TAAAAGTTAA AAAGGGTAAA AATTCAATTG ATGCAAGTGA
            541 AGAGAAGCCA GTTATGAGGA AAAAAAGAGG AAGAGAAGAT GAATCATACA ATATTTCAGA
            601 GGTCATGTCA AAAGAGGAAA TTTTGTCTGT GGCTAAAAAA AATAAAAAGG AGAATGAGGA
            661 TGAAAACTCC TCCTCTACTA ATCTCTGTGT GGAAGATCTT CAGAAAAATA AAGATTCGAA
            721 TAGTATAATT AAAGATAGAT TGTCTGAAAC GGTTAGGCAG AATACTAAAT TCTTTTTTGA
            781 CCCAGTCCGG AAGTGTAATG GTCAGCCNGT ACCTTTTCAA CAACCAAAGC NNNNNNCTGG
            841 AGGAGTGATG CGATGGTACC NAGTAGAANG NATGGAATGG CTTNNGATGC TTNGGGAAAA
            901 TGGAATTAAT GGCNTTTTAG CANATGAAAT GGGATTGGGN NNGANAGTTC NNNGCATTGC
            961 NNCTANTGNN TNNNTGANTC NNANANNNNT ACNNNGNANC TTTTNNNNNC NNNNNNNNNT
          1021 NNNNNNNNNN
          //
          Primer: hGHpolyA-R
          Region: hGHp(A), insert 3'
          Sequence file: RDB17377_A9Fhb.seq check
          >D06399A4_A9Fh_3_hGHpolyA-R_C02_08_ABI24.ab1
              1 NNNNNNNNNN CCNNNNNNNN NNNNNNANNA TNGAAGGNNN CCTAGTCAGA CAAAATGATG
             61 CAACTTAATT TTATTAGGAC AAGGCTGGTG GGCACTGGAG TGGCAACTTC CAGGGCCAGG
            121 AGAGGCACTG GGGAGGGGTC ACAGGGATGC CACCCGGGAT CCTCTAGAGT CGACTGGTAC
            181 CGATATCAGA TCTATCGATG AATTCGCGGC CGCTTAAAAC AAACATTCAG GACTGGAATC
            241 TTCAGAATTT TCTAATATCT TGAATATCCC CATCTTCTCT TTAATTGGTC CTGAAGCATT
            301 CATTTGATCA ATAAGATCAC TTCGATCTAA CAACAACTCT AGATCTTTAT CACTAATGAC
            361 CTTCTCTCTT GATCCTTTTA TTTCCCTTTC ATAATCTCTA GATTTTAATA ATTCCATTAA
            421 TTCCTTAGGA TCTAAGAAAT TCTTAGACAG ATTTAATCCA GACTGACCAC CTTTGAAATG
            481 ATTTTTATGG ATGATCAACT TTTCCAGTTT CCTTTTAGCA GCTGCTCTTT CCACAATTTT
            541 CTGATCGATA GTATTTGCTG TAACAAGGCG ATAAACAACA ACTGGCTTTG TCTGACCAAT
            601 TCTATGACAT CTATCCTGGG CCTGAAGATC CGACCGGGGG TTCCAATCAC TATCATAAAT
            661 GATAACTGTA TCTGCTGCAG TCAGATTAAT GCCCAGGCCA CCAGCTCGTG TACTCACTAA
            721 GAAGATAAAC ACCTCTGGAT CCGTGTTGAA GCTGTGCATG TTTTTTTCTC TCTCTGAGTA
            781 AGANATGGAC CCATCAAGCC TGCTGAAGTT GAAATCTCTG ANATGGCAGT AATCCATCAA
            841 AATGTCCAAC ATGCTTGTCA TTTGTGAAAA AAGCAGCACC TTGTGANNTC TTTTTTTTTA
            901 GTTCTGGNAG CATTCGATNC AAAATCAAGA ACTTNCCANA ATTTGNNANN NANTTCTTCN
            961 TCGATCTTAA ATTCNNGTGT AACNGGGNCT ATNNGANNTT CNNNCNAATA TNGNANGANN
           1021 ANNNCATTTN NNAAGNANCN TNANTNNNNT NNNGNNNNTN NNNNNTNNNN TNNNNNNNNN
          1081 N
          //
          Primer: SV40pro_F
          Region: NeoR/KanR
          Sequence file: RDB17377_A9Fhc.seq check
          >D06399A4_A9Fh_3_SV40pro_F_G01_07_ABI08.ab1
              1 NNNNNNNNNN NNNNNNNNNN NNNNNNNNNN NNNNTTTNNN TGNNNNNNNT TNGNNTCNNN
             61 TTGGGANCTG ATCNAGAGAC AGGATGAGGA NCGTTTCGCA TGATTGAACA AGATGGATTG
            121 CACGCAGGTT CTCCGGCCGC TTGGGTGGAG AGGCTATTCG GCTATGACTG GGCACAACAG
            181 ACAATCGGCT GCTCTGATGC CGCCGTGTTC CGGCTGTCAG CGCAGGGGCG CCCGGTTCTT
            241 TTTGTCAAGA CCGACCTGTC CGGTGCCCTG AATGAACTGC AGGACGAGGC AGCGCGGCTA
            301 TCGTGGCTGG CCACGACGGG CGTTCCTTGC GCAGCTGTGC TCGACGTTGT CACTGAAGCG
            361 GGAAGGGACT GGCTGCTATT GGGCGAAGTG CCGGGGCAGG ATCTCCTGTC ATCTCACCTT
            421 GCTCCTGCCG AGAAAGTATC CATCATGGCT GATGCAATGC GGCGGCTGCA TACGCTTGAT
            481 CCGGCTACCT GCCCATTCGA CCACCAAGCG AAACATCGCA TCGAGCGAGC ACGTACTCGG
            541 ATGGAAGCCG GTCTTGTCGA TCAGGATGAT CTGGACGAAG AGCATCAGGG GCTCGCGCCA
            601 NCCGAACTGT TCGCCAGGCT CAAGGCGCGC ATGCCCGACG GCGAGGATCT CGTCNTGACC
            661 CNTGNNNATG CCTGCTTGNC GAATATCATG GTGGAAANNG GNCGCTTTTC TGGATTCATC
            721 GACTGTGGCC GGCTGGGTGT GGCGGACCGC TATCNNGACA TANCGTTGGC TACNCGNGAT
            781 ATTGCTGAAG AGCTTGGCGG CGANTGGGGC TGACCGCTTN NTCNNGCTTT ACGGTATCNN
            841 NGCTNNNNAT TCNNNNCGNA TCGCCNTCTA TCGCNTTCTT GNCNAGTTNN TNNTGANNNG
          901 NNACTCTNNG GNTTCNAAAT GACCGNNNNN ANNNNANNNN NNNNNN
          //

          Please visit Sequencing and PCR primers for primer information.


          References

          Original, user report and related articles

          original Unoki, M., CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome. J. Clin. Invest. 129 (1): 78-92 (2019). PMID 30307408.

          2022.05.17

          GNP_filter3_RDBDEP_html_220516.pl