Incidental Mutation 'R8058:Helb'
ID 619556
Institutional Source Beutler Lab
Gene Symbol Helb
Ensembl Gene ENSMUSG00000020228
Gene Name helicase (DNA) B
Synonyms D10Ertd664e
MMRRC Submission 067495-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R8058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 119919513-119948892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119941483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 402 (S402P)
Ref Sequence ENSEMBL: ENSMUSP00000020449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020449] [ENSMUST00000154501]
AlphaFold Q6NVF4
Predicted Effect probably benign
Transcript: ENSMUST00000020449
AA Change: S402P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: S402P

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: S402P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: S402P

DomainStartEndE-ValueType
low complexity region 20 43 N/A INTRINSIC
Pfam:AAA_30 434 546 1.2e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,081,954 (GRCm39) D769N possibly damaging Het
Abcb6 A G 1: 75,156,653 (GRCm39) L37P possibly damaging Het
Abcg1 G T 17: 31,324,504 (GRCm39) A250S probably benign Het
Acsf3 C T 8: 123,540,373 (GRCm39) H524Y possibly damaging Het
Agbl4 A G 4: 110,518,039 (GRCm39) K110R unknown Het
Arfgap2 G A 2: 91,096,644 (GRCm39) probably null Het
B4galt4 T C 16: 38,586,383 (GRCm39) probably null Het
Bex6 G T 16: 32,005,224 (GRCm39) D11Y probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
C8b A T 4: 104,647,811 (GRCm39) D334V probably damaging Het
Capn11 T C 17: 45,954,681 (GRCm39) Q152R probably null Het
Ccdc171 C A 4: 83,499,003 (GRCm39) Q234K probably damaging Het
Cemip2 C A 19: 21,829,695 (GRCm39) A1268E probably benign Het
Clec2h A G 6: 128,650,966 (GRCm39) D82G probably benign Het
Creld2 A G 15: 88,710,632 (GRCm39) D349G probably damaging Het
D430041D05Rik A G 2: 103,979,128 (GRCm39) *1415Q probably null Het
Dnmt3a T C 12: 3,952,768 (GRCm39) V755A possibly damaging Het
Doc2a G T 7: 126,450,164 (GRCm39) V201L probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 G T 2: 125,193,889 (GRCm39) D1359E possibly damaging Het
Fcnb T C 2: 27,969,707 (GRCm39) Y120C probably damaging Het
Fras1 T A 5: 96,842,778 (GRCm39) D1665E probably benign Het
Fry A T 5: 150,419,232 (GRCm39) D524V Het
Garem1 A G 18: 21,281,621 (GRCm39) L245P probably damaging Het
Gdf6 A G 4: 9,859,712 (GRCm39) S265G probably benign Het
Gm5591 T C 7: 38,218,363 (GRCm39) I837V probably benign Het
Gpr61 T C 3: 108,058,211 (GRCm39) Y150C probably damaging Het
Grin2b A T 6: 135,710,225 (GRCm39) L1107Q probably damaging Het
Htt A G 5: 34,977,444 (GRCm39) T777A probably benign Het
Iffo2 A G 4: 139,341,164 (GRCm39) D383G probably benign Het
Ikzf3 G T 11: 98,407,753 (GRCm39) Y29* probably null Het
Ints2 A T 11: 86,146,179 (GRCm39) M143K probably benign Het
Jmjd1c T C 10: 67,090,274 (GRCm39) V2292A not run Het
Katnip A G 7: 125,442,188 (GRCm39) E725G probably benign Het
Lamb1 C A 12: 31,353,046 (GRCm39) Q916K probably benign Het
Lrrtm4 G A 6: 79,999,528 (GRCm39) M313I probably benign Het
Lum A G 10: 97,404,425 (GRCm39) I107V probably benign Het
Ly6h T C 15: 75,437,061 (GRCm39) E126G probably benign Het
Map3k5 G A 10: 20,007,860 (GRCm39) V1230M probably damaging Het
Mcoln1 T C 8: 3,558,378 (GRCm39) F211L probably benign Het
Mink1 G A 11: 70,494,594 (GRCm39) W258* probably null Het
Muc16 G T 9: 18,571,298 (GRCm39) S407* probably null Het
Ngef G A 1: 87,473,744 (GRCm39) Q13* probably null Het
Nxpe5 T A 5: 138,237,573 (GRCm39) Y44* probably null Het
Or13d1 T A 4: 52,971,106 (GRCm39) L162M probably benign Het
Or4a77 A G 2: 89,487,671 (GRCm39) V38A probably benign Het
Or5t9 A G 2: 86,660,052 (GRCm39) R319G probably benign Het
Or7e178 T A 9: 20,225,476 (GRCm39) I247F probably damaging Het
Or8g24 A T 9: 38,989,862 (GRCm39) Y60N probably damaging Het
Or8h8 C A 2: 86,753,151 (GRCm39) A242S probably benign Het
Orc3 C A 4: 34,595,223 (GRCm39) E249* probably null Het
Otogl A T 10: 107,598,287 (GRCm39) C2288S probably damaging Het
Pde1b A G 15: 103,433,238 (GRCm39) E249G probably damaging Het
Phf2 T C 13: 48,976,558 (GRCm39) E219G unknown Het
Rbm19 T A 5: 120,278,440 (GRCm39) probably null Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Sbk2 A G 7: 4,960,289 (GRCm39) Y294H possibly damaging Het
Selenoo T C 15: 88,976,942 (GRCm39) I198T possibly damaging Het
Sema3f T C 9: 107,559,800 (GRCm39) E729G probably benign Het
Serpinb1b A T 13: 33,269,293 (GRCm39) T9S probably benign Het
Sfxn4 T C 19: 60,832,690 (GRCm39) T235A probably damaging Het
Shc4 A T 2: 125,491,154 (GRCm39) Y461* probably null Het
Slc22a15 T C 3: 101,771,926 (GRCm39) D391G probably benign Het
Slc22a23 G T 13: 34,489,167 (GRCm39) Y239* probably null Het
Slc24a2 G A 4: 86,909,750 (GRCm39) A656V probably damaging Het
Slc2a5 A T 4: 150,227,590 (GRCm39) I470F probably damaging Het
Sptbn4 T C 7: 27,063,694 (GRCm39) E2249G possibly damaging Het
Tas2r139 A T 6: 42,118,753 (GRCm39) Q295L probably benign Het
Tdrd7 C A 4: 46,034,309 (GRCm39) S1051R probably benign Het
Tnfrsf18 G A 4: 156,112,802 (GRCm39) A163T probably benign Het
Ube3b T C 5: 114,544,846 (GRCm39) V596A possibly damaging Het
Vmn2r10 T A 5: 109,149,955 (GRCm39) N363I probably benign Het
Vmn2r15 T A 5: 109,440,956 (GRCm39) I301F probably damaging Het
Yod1 C T 1: 130,646,806 (GRCm39) Q228* probably null Het
Zfp433 A T 10: 81,556,124 (GRCm39) K209* probably null Het
Zfp865 G A 7: 5,033,445 (GRCm39) V477I probably benign Het
Zfp937 T A 2: 150,081,421 (GRCm39) Y484N probably benign Het
Zfp951 T G 5: 104,962,312 (GRCm39) H418P 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
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
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'- GCTAACAATGGTGGTCTTCCC -3'
(R):5'- TGAAGGACATTGACGTGGTC -3'

Sequencing Primer
(F):5'- TGGTCTTCCCACAGCCG -3'
(R):5'- TCTTTCTGAACTGTACGAGGCCG -3'
Posted On 2020-01-23