Incidental Mutation 'IGL01483:Helb'
ID 88697
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Helb
Ensembl Gene ENSMUSG00000020228
Gene Name helicase (DNA) B
Synonyms D10Ertd664e
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # IGL01483
Quality Score
Status
Chromosome 10
Chromosomal Location 119919513-119948892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119947043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 90 (V90A)
Ref Sequence ENSEMBL: ENSMUSP00000116954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020449] [ENSMUST00000154501]
AlphaFold Q6NVF4
Predicted Effect possibly damaging
Transcript: ENSMUST00000020449
AA Change: V90A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: V90A

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 damaging
Transcript: ENSMUST00000154501
AA Change: V90A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: V90A

DomainStartEndE-ValueType
low complexity region 20 43 N/A INTRINSIC
Pfam:AAA_30 434 546 1.2e-8 PFAM
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,351,201 (GRCm39) noncoding transcript Het
Abcb4 T C 5: 8,977,871 (GRCm39) I483T probably damaging Het
Ank3 A T 10: 69,710,639 (GRCm39) H388L probably damaging Het
Arhgap24 T C 5: 103,008,243 (GRCm39) Y52H possibly damaging Het
Atf7ip A G 6: 136,564,457 (GRCm39) N900S probably damaging Het
Bmp10 A T 6: 87,410,933 (GRCm39) D242V probably damaging Het
Ceacam12 A G 7: 17,801,446 (GRCm39) R142G probably benign Het
Cilp2 T A 8: 70,335,496 (GRCm39) I501F probably damaging Het
Cplane1 T G 15: 8,216,591 (GRCm39) I603S probably damaging Het
Dglucy T C 12: 100,819,476 (GRCm39) V426A probably damaging Het
Dyrk1b A G 7: 27,882,101 (GRCm39) D94G probably damaging Het
Efcab3 T C 11: 104,630,173 (GRCm39) V968A probably benign Het
Erbb2 C T 11: 98,325,365 (GRCm39) R898C probably damaging Het
Fbxo7 T C 10: 85,880,445 (GRCm39) Y298H probably damaging Het
Gcg T C 2: 62,310,827 (GRCm39) D25G possibly damaging Het
Krt40 T A 11: 99,433,553 (GRCm39) E144D probably damaging Het
Lpo G A 11: 87,711,964 (GRCm39) T31I probably benign Het
Mc5r A G 18: 68,472,315 (GRCm39) I225V probably damaging Het
Mccc1 A G 3: 36,044,009 (GRCm39) F245L probably damaging Het
Mindy4 A G 6: 55,193,670 (GRCm39) D121G probably damaging Het
Nap1l4 A T 7: 143,081,053 (GRCm39) probably null Het
Noc4l T A 5: 110,796,824 (GRCm39) K486M probably damaging Het
Notum T C 11: 120,547,482 (GRCm39) D271G probably damaging Het
Pan3 T A 5: 147,466,783 (GRCm39) L550Q probably benign Het
Pde4dip A G 3: 97,661,465 (GRCm39) S594P probably damaging Het
Pramel12 A T 4: 143,144,047 (GRCm39) E131V probably damaging Het
Prr23a1 T G 9: 98,725,369 (GRCm39) S244A probably benign Het
Rarb T C 14: 16,432,273 (GRCm38) probably benign Het
Sh3d19 A G 3: 86,022,103 (GRCm39) D511G probably benign Het
Slco6c1 T C 1: 97,055,832 (GRCm39) N23S probably benign Het
Smarcc1 G T 9: 110,051,128 (GRCm39) G983* probably null Het
Tbc1d22a A T 15: 86,275,404 (GRCm39) Q442L probably benign Het
Tuba1b A G 15: 98,830,338 (GRCm39) Y161H possibly damaging Het
Zdhhc14 G A 17: 5,762,733 (GRCm39) M212I probably benign 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
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
R3874:Helb UTSW 10 119,941,942 (GRCm39) missense probably benign 0.31
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
Posted On 2013-11-18