Incidental Mutation 'R2180:Helb'
ID 237137
Institutional Source Beutler Lab
Gene Symbol Helb
Ensembl Gene ENSMUSG00000020228
Gene Name helicase (DNA) B
Synonyms D10Ertd664e
MMRRC Submission 040182-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R2180 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 119919513-119948892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119941353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 445 (T445M)
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: T445M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228
AA Change: T445M

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: T445M

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228
AA Change: T445M

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: 97.4%
  • 20x: 95.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T C 16: 85,684,812 (GRCm39) D377G probably damaging Het
Adgrl4 A T 3: 151,205,779 (GRCm39) I164F probably damaging Het
Anxa9 T C 3: 95,213,735 (GRCm39) probably null Het
Aox4 A T 1: 58,252,226 (GRCm39) T34S probably benign Het
Asic1 G T 15: 99,569,846 (GRCm39) V56F probably benign Het
Atpaf1 T C 4: 115,645,557 (GRCm39) M1T probably null Het
Axin1 A G 17: 26,362,309 (GRCm39) T218A probably benign Het
Bdp1 ATTCTTCTTCTTCTTCTTC ATTCTTCTTCTTCTTCTTCTTC 13: 100,197,913 (GRCm39) probably benign Het
Birc6 T C 17: 74,919,146 (GRCm39) I1988T probably benign Het
Btbd7 A T 12: 102,752,156 (GRCm39) D869E probably damaging Het
Caln1 T C 5: 130,868,249 (GRCm39) *220Q probably null Het
Ccdc150 G A 1: 54,311,706 (GRCm39) probably null Het
Ccnt1 A T 15: 98,441,481 (GRCm39) S596T possibly damaging Het
Cd44 C T 2: 102,658,955 (GRCm39) G640E possibly damaging Het
Cep192 A G 18: 67,957,813 (GRCm39) E582G possibly damaging Het
Clcnkb G T 4: 141,136,819 (GRCm39) probably null Het
Dhx29 T C 13: 113,099,406 (GRCm39) probably null Het
Dnah8 T C 17: 31,059,621 (GRCm39) F4407S probably benign Het
Enah A T 1: 181,746,024 (GRCm39) M419K probably damaging Het
Fancd2 A T 6: 113,551,598 (GRCm39) T1055S probably benign Het
Gigyf2 G A 1: 87,344,642 (GRCm39) G525D probably damaging Het
Gm5800 T A 14: 51,953,451 (GRCm39) K55* probably null Het
Gpr149 A G 3: 62,511,489 (GRCm39) L170P probably damaging Het
Grik4 A T 9: 42,453,301 (GRCm39) Y695N probably benign Het
Gsg1 A T 6: 135,217,143 (GRCm39) V228D probably damaging Het
Helz2 A T 2: 180,875,525 (GRCm39) D1656E probably damaging Het
Hyou1 A T 9: 44,299,316 (GRCm39) K669M probably benign Het
Itga2 T C 13: 114,985,917 (GRCm39) N953D possibly damaging Het
Ldhd T C 8: 112,356,018 (GRCm39) I122V probably benign Het
Lrrtm1 A G 6: 77,221,329 (GRCm39) D262G probably damaging Het
Mapkapk5 T C 5: 121,673,927 (GRCm39) probably null Het
Msantd5l C A 11: 51,145,437 (GRCm39) W50L probably damaging Het
Niban1 A T 1: 151,593,829 (GRCm39) H838L probably benign Het
Numa1 T C 7: 101,649,197 (GRCm39) I976T probably benign Het
Or10x1 A G 1: 174,196,967 (GRCm39) I161M probably damaging Het
Or2a12 C T 6: 42,904,459 (GRCm39) T98I probably benign Het
Or4f14b A G 2: 111,775,348 (GRCm39) V151A probably benign Het
Or52e4 T C 7: 104,706,092 (GRCm39) I213T probably benign Het
Patj G A 4: 98,411,739 (GRCm39) probably null Het
Pfas T C 11: 68,883,013 (GRCm39) D757G possibly damaging Het
Pom121l2 A G 13: 22,166,145 (GRCm39) N139D probably benign Het
Ppp2r3d A T 9: 101,004,214 (GRCm39) Y994* probably null Het
Ppp6c T C 2: 39,087,525 (GRCm39) D227G probably benign Het
Ptpn13 T G 5: 103,717,424 (GRCm39) H1855Q probably damaging Het
Ptprh T A 7: 4,604,867 (GRCm39) Q59L probably benign Het
Rap1gap2 T C 11: 74,283,972 (GRCm39) K669E probably benign Het
Rbl2 T C 8: 91,816,683 (GRCm39) S348P possibly damaging Het
Rptor T A 11: 119,615,970 (GRCm39) N161K probably damaging Het
Satb1 C T 17: 52,110,524 (GRCm39) A192T probably damaging Het
Scn5a A G 9: 119,345,117 (GRCm39) V1083A probably benign Het
Sec14l2 C T 11: 4,058,964 (GRCm39) A194T probably damaging Het
Sema4b A G 7: 79,862,583 (GRCm39) N53S probably benign Het
Sin3b T A 8: 73,479,923 (GRCm39) Y876* probably null Het
Smchd1 C A 17: 71,770,794 (GRCm39) M129I probably benign Het
Spmip6 T A 4: 41,507,170 (GRCm39) M209L probably benign Het
Tmc1 T C 19: 20,801,448 (GRCm39) Y484C probably damaging Het
Utp20 A G 10: 88,656,801 (GRCm39) S135P probably damaging Het
Zfp266 A T 9: 20,410,975 (GRCm39) C401S probably damaging Het
Zfp738 G A 13: 67,819,313 (GRCm39) T226I probably damaging Het
Zfp871 G A 17: 32,994,275 (GRCm39) T300M 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
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
Predicted Primers PCR Primer
(F):5'- GCTCTGCTTAGGACAGTCAAGC -3'
(R):5'- GAACGTCCTGGCGTCAATTAG -3'

Sequencing Primer
(F):5'- AGTCAAGCCACTCTTCTGAGG -3'
(R):5'- CCAACGATCCAGGAAGTGCTG -3'
Posted On 2014-10-02