Incidental Mutation 'R2432:Helb'
ID 250457
Institutional Source Beutler Lab
Gene Symbol Helb
Ensembl Gene ENSMUSG00000020228
Gene Name helicase (DNA) B
Synonyms D10Ertd664e
MMRRC Submission 040393-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R2432 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 119919513-119948892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119941442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 415 (D415E)
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: D415E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: D415E

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: D415E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: D415E

DomainStartEndE-ValueType
low complexity region 20 43 N/A INTRINSIC
Pfam:AAA_30 434 546 1.2e-8 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,401,333 (GRCm39) probably benign Het
Adamts6 A T 13: 104,563,485 (GRCm39) Y659F probably benign Het
Adamts9 C A 6: 92,834,881 (GRCm39) G750W probably damaging Het
Adgrv1 GA GAA 13: 81,688,251 (GRCm39) probably null Het
Aspscr1 A G 11: 120,593,392 (GRCm39) probably benign Het
Calr3 A G 8: 73,192,270 (GRCm39) probably benign Het
Cpt2 A T 4: 107,761,723 (GRCm39) Y126* probably null Het
Cyp2d34 A G 15: 82,503,212 (GRCm39) L94P probably damaging Het
Def6 A T 17: 28,447,043 (GRCm39) D558V probably benign Het
Dnase1l2 G A 17: 24,661,699 (GRCm39) T20I possibly damaging Het
Eif5b A G 1: 38,058,423 (GRCm39) K242E unknown Het
Golim4 T C 3: 75,799,249 (GRCm39) N478S possibly damaging Het
Ifna12 T A 4: 88,521,590 (GRCm39) probably benign Het
Jhy T A 9: 40,872,182 (GRCm39) H109L probably benign Het
Krt87 A T 15: 101,386,037 (GRCm39) Y241* probably null Het
Macf1 G T 4: 123,577,789 (GRCm39) A65E probably damaging Het
Mug2 C A 6: 122,061,335 (GRCm39) N1418K possibly damaging Het
Myo1f A G 17: 33,794,823 (GRCm39) D21G probably damaging Het
Myo5a T A 9: 75,120,155 (GRCm39) I1651N possibly damaging Het
Notch3 A T 17: 32,372,778 (GRCm39) C598S probably damaging Het
Npat A T 9: 53,469,435 (GRCm39) H307L probably damaging Het
Nr1h2 T C 7: 44,200,791 (GRCm39) Q279R possibly damaging Het
Or4k52 T C 2: 111,611,016 (GRCm39) V117A probably benign Het
Or6c6c A G 10: 129,540,794 (GRCm39) T16A possibly damaging Het
Pcdhb16 A T 18: 37,612,983 (GRCm39) N648Y probably damaging Het
Pdzrn3 G T 6: 101,127,752 (GRCm39) S971R probably damaging Het
Plch2 A G 4: 155,070,621 (GRCm39) *494Q probably null Het
Plekhg4 T A 8: 106,108,468 (GRCm39) D1170E probably benign Het
Plekhm3 A G 1: 64,977,015 (GRCm39) S152P probably damaging Het
Ppargc1b G A 18: 61,440,870 (GRCm39) P683S possibly damaging Het
Prdm12 T G 2: 31,541,864 (GRCm39) M191R probably benign Het
Prdm14 T C 1: 13,195,857 (GRCm39) D68G probably benign Het
Prp2 C T 6: 132,576,874 (GRCm39) P54S unknown Het
Prpf4b A G 13: 35,067,324 (GRCm39) probably benign Het
Ptprk T A 10: 28,468,840 (GRCm39) V1408E probably damaging Het
Rap1gds1 A G 3: 138,662,011 (GRCm39) M415T probably damaging Het
Rps6ka5 A G 12: 100,520,664 (GRCm39) F621S probably damaging Het
Rrm1 T A 7: 102,092,279 (GRCm39) D35E probably benign Het
Rxfp3 T C 15: 11,036,226 (GRCm39) H382R probably damaging Het
Slc11a1 A G 1: 74,422,910 (GRCm39) probably benign Het
Slc25a13 A T 6: 6,114,017 (GRCm39) M285K probably benign Het
Slc30a3 T C 5: 31,246,038 (GRCm39) S231G probably damaging Het
Slc44a2 A T 9: 21,256,130 (GRCm39) I274F probably damaging Het
Tas2r119 A G 15: 32,178,165 (GRCm39) I244V possibly damaging Het
Tenm2 C A 11: 35,918,018 (GRCm39) R1914L probably damaging Het
Tfdp2 T C 9: 96,192,643 (GRCm39) M242T probably damaging Het
Tmprss6 A G 15: 78,349,304 (GRCm39) probably benign Het
Ttc6 C T 12: 57,668,821 (GRCm39) P421L possibly damaging Het
Usp16 T A 16: 87,263,246 (GRCm39) probably null Het
Usp40 T C 1: 87,909,804 (GRCm39) E550G probably benign Het
Vmn2r28 T C 7: 5,491,701 (GRCm39) Y182C probably damaging Het
Zfp382 A G 7: 29,833,174 (GRCm39) D275G 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCAAAATCCTCGCAGGCTTG -3'
(R):5'- AAGACATCGCCTCCTCCATCTG -3'

Sequencing Primer
(F):5'- GATGTTCCATGTGCTTAAAAAGACGG -3'
(R):5'- ATCTGCGAGCTGATGAGC -3'
Posted On 2014-11-12