Incidental Mutation 'R3874:Helb'
ID 276736
Institutional Source Beutler Lab
Gene Symbol Helb
Ensembl Gene ENSMUSG00000020228
Gene Name helicase (DNA) B
Synonyms D10Ertd664e
MMRRC Submission 040792-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R3874 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 119919513-119948892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119941942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 249 (I249V)
Ref Sequence ENSEMBL: ENSMUSP00000116954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020449] [ENSMUST00000154501]
AlphaFold Q6NVF4
Predicted Effect probably benign
Transcript: ENSMUST00000020449
AA Change: I249V

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: I249V

DomainStartEndE-ValueType
low complexity region 20 43 N/A INTRINSIC
Pfam:AAA_30 434 661 4.8e-24 PFAM
Pfam:UvrD_C_2 855 901 2.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154501
AA Change: I249V

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: I249V

DomainStartEndE-ValueType
low complexity region 20 43 N/A INTRINSIC
Pfam:AAA_30 434 546 1.2e-8 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous knockout MEFs display increased DNA end resection, resulting in increased level of single-strand DNA formation at double-strand DNA breaks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130213A22Rik C A 11: 69,012,301 (GRCm39) G26* probably null Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Acox2 A G 14: 8,248,061 (GRCm38) I407T probably benign Het
Adam8 T C 7: 139,567,520 (GRCm39) N408D probably damaging Het
Adgre1 A T 17: 57,708,925 (GRCm39) T39S probably benign Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Arid1b T A 17: 5,386,790 (GRCm39) probably null Het
Atp2c2 A G 8: 120,462,035 (GRCm39) I303V possibly damaging Het
Bpifc C T 10: 85,827,118 (GRCm39) V144I probably benign Het
Camk4 A G 18: 33,291,907 (GRCm39) E189G possibly damaging Het
Casz1 A G 4: 149,024,046 (GRCm39) probably benign Het
Ccdc134 T C 15: 82,015,643 (GRCm39) V41A possibly damaging Het
Chrd A T 16: 20,557,660 (GRCm39) T753S probably damaging Het
Cracd A G 5: 76,988,739 (GRCm39) D30G probably damaging Het
Cyb561a3 T C 19: 10,562,735 (GRCm39) V125A probably benign Het
D630039A03Rik T A 4: 57,910,606 (GRCm39) T69S probably benign Het
Dchs1 A G 7: 105,410,842 (GRCm39) F1687S probably damaging Het
Dlgap4 T C 2: 156,591,267 (GRCm39) S818P probably benign Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Dnai2 G T 11: 114,623,781 (GRCm39) G15W probably damaging Het
Dsg1c A G 18: 20,410,109 (GRCm39) I526V probably benign Het
Far2 G A 6: 148,052,089 (GRCm39) E123K probably benign Het
Gli1 A T 10: 127,166,088 (GRCm39) V1055E probably damaging Het
Hand2 G T 8: 57,775,011 (GRCm39) A24S probably benign Het
Hspa4l G A 3: 40,727,074 (GRCm39) V492M probably damaging Het
Hspg2 T C 4: 137,266,660 (GRCm39) I1916T probably damaging Het
Igfals G A 17: 25,100,579 (GRCm39) V557I possibly damaging Het
Itpa T G 2: 130,522,930 (GRCm39) S176A probably damaging Het
Kcnu1 T A 8: 26,375,345 (GRCm39) L353H probably damaging Het
Klhl1 A G 14: 96,755,615 (GRCm39) F47L probably benign Het
Klhl13 T C X: 23,151,415 (GRCm39) D21G probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Krt9 C T 11: 100,081,675 (GRCm39) V285I probably damaging Het
Mansc1 T C 6: 134,587,146 (GRCm39) R344G possibly damaging Het
Mier2 G T 10: 79,377,631 (GRCm39) P439T possibly damaging Het
Mppe1 T A 18: 67,358,957 (GRCm39) probably null Het
Nedd4l G A 18: 65,300,606 (GRCm39) A243T probably benign Het
Notch4 T A 17: 34,797,043 (GRCm39) C934* probably null Het
Nsmce3 C T 7: 64,521,916 (GRCm39) D251N probably damaging Het
Or10a49 C T 7: 108,468,335 (GRCm39) V9M probably damaging Het
Or12d12 T A 17: 37,610,870 (GRCm39) T148S probably benign Het
Or3a10 A G 11: 73,935,525 (GRCm39) C192R probably damaging Het
Or4f6 T C 2: 111,838,668 (GRCm39) T288A possibly damaging Het
Or5l13 T A 2: 87,779,874 (GRCm39) R234S probably damaging Het
Or8g23 A G 9: 38,971,470 (GRCm39) I164T probably benign Het
Pdzd7 T C 19: 45,034,067 (GRCm39) T6A probably benign Het
Picalm T A 7: 89,838,427 (GRCm39) F493Y probably damaging Het
Prl7d1 A G 13: 27,900,651 (GRCm39) M1T probably null Het
Prl8a1 T C 13: 27,759,441 (GRCm39) K199E possibly damaging Het
Rims1 C T 1: 22,498,740 (GRCm39) R764H probably damaging Het
Rnf17 G T 14: 56,712,870 (GRCm39) R779L possibly damaging Het
Rufy2 T C 10: 62,833,916 (GRCm39) L294P probably damaging Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Slc22a30 G T 19: 8,314,213 (GRCm39) T491K probably benign Het
Slc35b3 T C 13: 39,127,044 (GRCm39) N20D possibly damaging Het
Slc5a4a T C 10: 76,017,489 (GRCm39) F429L probably benign Het
Sulf1 T C 1: 12,887,636 (GRCm39) I270T probably damaging Het
Tmem51 T C 4: 141,759,059 (GRCm39) T230A probably damaging Het
Tnc T A 4: 63,926,947 (GRCm39) I860F probably damaging Het
Trh A T 6: 92,220,679 (GRCm39) V61E possibly damaging Het
Ttn T G 2: 76,584,443 (GRCm39) T22222P probably damaging Het
Uroc1 A T 6: 90,338,494 (GRCm39) K652* probably null Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vmn2r120 A T 17: 57,831,954 (GRCm39) F278L probably benign Het
Vmn2r7 A G 3: 64,627,032 (GRCm39) F86L possibly damaging Het
Vmn2r87 A T 10: 130,315,856 (GRCm39) I70K possibly damaging Het
Vps13a C T 19: 16,722,317 (GRCm39) A332T probably benign Het
Zfp568 T A 7: 29,722,821 (GRCm39) C589S probably damaging Het
Other mutations in Helb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Helb APN 10 119,934,150 (GRCm39) missense possibly damaging 0.88
IGL00516:Helb APN 10 119,941,329 (GRCm39) missense probably damaging 1.00
IGL00924:Helb APN 10 119,946,889 (GRCm39) missense probably benign 0.01
IGL00971:Helb APN 10 119,930,168 (GRCm39) missense possibly damaging 0.50
IGL01142:Helb APN 10 119,947,049 (GRCm39) missense probably damaging 1.00
IGL01483:Helb APN 10 119,947,043 (GRCm39) missense probably damaging 1.00
IGL01688:Helb APN 10 119,944,885 (GRCm39) missense probably damaging 0.99
IGL01860:Helb APN 10 119,938,738 (GRCm39) missense probably damaging 0.97
IGL02298:Helb APN 10 119,937,431 (GRCm39) missense probably damaging 1.00
IGL02501:Helb APN 10 119,938,693 (GRCm39) missense possibly damaging 0.96
IGL02554:Helb APN 10 119,925,617 (GRCm39) missense probably damaging 1.00
IGL02810:Helb APN 10 119,927,608 (GRCm39) missense possibly damaging 0.48
IGL02902:Helb APN 10 119,925,390 (GRCm39) missense probably benign 0.00
IGL03405:Helb APN 10 119,925,701 (GRCm39) missense probably damaging 1.00
R0004:Helb UTSW 10 119,944,886 (GRCm39) missense probably damaging 1.00
R0092:Helb UTSW 10 119,925,713 (GRCm39) missense probably damaging 1.00
R0436:Helb UTSW 10 119,930,117 (GRCm39) splice site probably benign
R0850:Helb UTSW 10 119,941,272 (GRCm39) missense probably damaging 1.00
R1423:Helb UTSW 10 119,944,871 (GRCm39) missense probably damaging 0.99
R1663:Helb UTSW 10 119,941,338 (GRCm39) missense probably damaging 1.00
R1756:Helb UTSW 10 119,930,147 (GRCm39) missense probably damaging 0.96
R1812:Helb UTSW 10 119,925,471 (GRCm39) nonsense probably null
R1976:Helb UTSW 10 119,930,168 (GRCm39) missense possibly damaging 0.50
R2049:Helb UTSW 10 119,941,926 (GRCm39) missense possibly damaging 0.74
R2063:Helb UTSW 10 119,941,671 (GRCm39) missense probably benign
R2141:Helb UTSW 10 119,941,926 (GRCm39) missense possibly damaging 0.74
R2180:Helb UTSW 10 119,941,353 (GRCm39) missense probably benign 0.02
R2432:Helb UTSW 10 119,941,442 (GRCm39) missense probably benign 0.01
R3030:Helb UTSW 10 119,925,487 (GRCm39) nonsense probably null
R3978:Helb UTSW 10 119,925,530 (GRCm39) missense probably benign
R4731:Helb UTSW 10 119,930,193 (GRCm39) critical splice acceptor site probably null
R4734:Helb UTSW 10 119,920,754 (GRCm39) missense probably benign
R4748:Helb UTSW 10 119,920,754 (GRCm39) missense probably benign
R4749:Helb UTSW 10 119,920,754 (GRCm39) missense probably benign
R4840:Helb UTSW 10 119,920,763 (GRCm39) missense probably benign 0.33
R4977:Helb UTSW 10 119,946,786 (GRCm39) missense probably benign 0.01
R5149:Helb UTSW 10 119,941,648 (GRCm39) missense probably benign 0.39
R5220:Helb UTSW 10 119,937,391 (GRCm39) missense probably damaging 1.00
R5447:Helb UTSW 10 119,938,806 (GRCm39) missense possibly damaging 0.88
R5637:Helb UTSW 10 119,941,353 (GRCm39) missense probably benign 0.02
R5660:Helb UTSW 10 119,946,984 (GRCm39) nonsense probably null
R5663:Helb UTSW 10 119,941,698 (GRCm39) missense possibly damaging 0.61
R5806:Helb UTSW 10 119,928,424 (GRCm39) missense probably damaging 1.00
R5951:Helb UTSW 10 119,927,653 (GRCm39) missense possibly damaging 0.91
R6010:Helb UTSW 10 119,941,788 (GRCm39) missense probably damaging 1.00
R6183:Helb UTSW 10 119,948,903 (GRCm39) splice site probably null
R6578:Helb UTSW 10 119,947,086 (GRCm39) missense probably damaging 1.00
R6642:Helb UTSW 10 119,920,835 (GRCm39) missense probably benign 0.17
R6666:Helb UTSW 10 119,920,856 (GRCm39) missense probably damaging 0.99
R6705:Helb UTSW 10 119,925,716 (GRCm39) splice site probably null
R6746:Helb UTSW 10 119,941,373 (GRCm39) missense probably damaging 1.00
R7114:Helb UTSW 10 119,941,161 (GRCm39) missense probably benign 0.09
R7396:Helb UTSW 10 119,925,476 (GRCm39) missense probably benign
R7422:Helb UTSW 10 119,944,799 (GRCm39) missense probably damaging 1.00
R7508:Helb UTSW 10 119,941,188 (GRCm39) missense probably benign 0.04
R7509:Helb UTSW 10 119,925,719 (GRCm39) missense probably damaging 1.00
R7746:Helb UTSW 10 119,931,007 (GRCm39) missense probably null 1.00
R8058:Helb UTSW 10 119,941,483 (GRCm39) missense probably benign 0.00
R8074:Helb UTSW 10 119,925,321 (GRCm39) missense probably benign 0.00
R8348:Helb UTSW 10 119,938,791 (GRCm39) missense probably damaging 1.00
R8428:Helb UTSW 10 119,927,522 (GRCm39) missense probably damaging 1.00
R8448:Helb UTSW 10 119,938,791 (GRCm39) missense probably damaging 1.00
R8710:Helb UTSW 10 119,941,872 (GRCm39) missense probably damaging 1.00
R8751:Helb UTSW 10 119,925,412 (GRCm39) missense probably benign 0.01
R8815:Helb UTSW 10 119,948,692 (GRCm39) missense possibly damaging 0.71
R8822:Helb UTSW 10 119,941,389 (GRCm39) missense probably benign 0.01
R9031:Helb UTSW 10 119,920,790 (GRCm39) missense possibly damaging 0.62
R9340:Helb UTSW 10 119,928,556 (GRCm39) missense probably damaging 1.00
Z1177:Helb UTSW 10 119,928,595 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGCCCGAGGTCAAGTCTTTTAC -3'
(R):5'- TAGCTAGACAACCTTTTCACCC -3'

Sequencing Primer
(F):5'- ACTTCAATGTACGTGTGTCCG -3'
(R):5'- CTGGGATTTGAACTCAGGACCTC -3'
Posted On 2015-04-06