Incidental Mutation 'R8720:Helq'
ID 670065
Institutional Source Beutler Lab
Gene Symbol Helq
Ensembl Gene ENSMUSG00000035266
Gene Name helicase, POLQ-like
Synonyms Hel308, D430018E21Rik
MMRRC Submission 068571-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8720 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 100910011-100946464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100914561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 977 (V977A)
Ref Sequence ENSEMBL: ENSMUSP00000041599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044684]
AlphaFold Q2VPA6
Predicted Effect probably damaging
Transcript: ENSMUST00000044684
AA Change: V977A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: V977A

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
DEXDc 291 486 3.05e-17 SMART
HELICc 585 671 2.54e-14 SMART
low complexity region 812 827 N/A INTRINSIC
low complexity region 881 892 N/A INTRINSIC
low complexity region 1029 1042 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133845
SMART Domains Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
DEXDc 290 485 3.05e-17 SMART
HELICc 584 670 2.54e-14 SMART
low complexity region 811 826 N/A INTRINSIC
low complexity region 932 945 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155362
SMART Domains Protein: ENSMUSP00000120806
Gene: ENSMUSG00000035266

DomainStartEndE-ValueType
low complexity region 46 61 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced fertility and increased incident of tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 T C 11: 61,104,305 (GRCm39) V64A probably benign Het
Anln T C 9: 22,284,573 (GRCm39) H379R probably benign Het
Asb2 A G 12: 103,291,680 (GRCm39) Y416H probably damaging Het
Atp2b4 TTCTTC TTCTTCGTCTTC 1: 133,629,465 (GRCm39) probably benign Het
Chsy1 T A 7: 65,821,088 (GRCm39) M441K possibly damaging Het
Cmas A G 6: 142,716,929 (GRCm39) K274E probably damaging Het
Cmip A G 8: 118,138,010 (GRCm39) Y75C probably damaging Het
Col17a1 T A 19: 47,637,531 (GRCm39) probably benign Het
Col3a1 A G 1: 45,386,893 (GRCm39) Y1368C unknown Het
Cracdl A G 1: 37,652,522 (GRCm39) F1095S possibly damaging Het
Cspg4 C T 9: 56,794,797 (GRCm39) T844I probably benign Het
Dnai7 G T 6: 145,150,983 (GRCm39) R30S unknown Het
Ect2 A T 3: 27,169,647 (GRCm39) N766K probably damaging Het
Fanci C A 7: 79,089,425 (GRCm39) Q954K possibly damaging Het
Gm30083 A G 14: 33,736,895 (GRCm39) S21P probably benign Het
Gulo C T 14: 66,225,074 (GRCm39) E422K probably benign Het
Herc1 A G 9: 66,389,105 (GRCm39) D3874G probably benign Het
Hsf4 G T 8: 105,996,605 (GRCm39) D34Y probably damaging Het
Il18 G A 9: 50,476,684 (GRCm39) probably benign Het
Il22ra2 A T 10: 19,508,599 (GRCm39) E209V probably damaging Het
Ino80 A T 2: 119,232,868 (GRCm39) L1150Q probably damaging Het
Kif16b A G 2: 142,691,792 (GRCm39) F231L probably damaging Het
Krtap19-4 A G 16: 88,681,846 (GRCm39) Y37H unknown Het
Lama4 A T 10: 38,971,079 (GRCm39) D1548V probably damaging Het
Lrig2 C T 3: 104,418,998 (GRCm39) A4T probably damaging Het
Lrp4 A T 2: 91,324,459 (GRCm39) I1265F probably damaging Het
Muc16 T A 9: 18,552,896 (GRCm39) T4466S probably benign Het
Myo1e A G 9: 70,204,570 (GRCm39) I57V possibly damaging Het
Naip2 A T 13: 100,298,630 (GRCm39) Y469N probably benign Het
Nav1 G A 1: 135,388,464 (GRCm39) R1065C unknown Het
Nps C T 7: 134,874,045 (GRCm39) R72C probably damaging Het
Nup210l G A 3: 90,117,681 (GRCm39) V1796I probably benign Het
Pdzd7 T C 19: 45,024,667 (GRCm39) K451E probably benign Het
Pigv A T 4: 133,392,968 (GRCm39) D67E probably damaging Het
Pik3cg A T 12: 32,243,688 (GRCm39) F928I probably benign Het
Pkn3 A G 2: 29,975,196 (GRCm39) N486D probably benign Het
Ppp2r3d A G 9: 101,089,084 (GRCm39) L413P probably damaging Het
Rbm45 G T 2: 76,210,711 (GRCm39) R414L probably damaging Het
Sap30l A T 11: 57,698,875 (GRCm39) N116I probably damaging Het
Slc17a5 A T 9: 78,485,945 (GRCm39) F47I probably damaging Het
Slco1a7 A T 6: 141,668,852 (GRCm39) S527T probably benign Het
Srbd1 A T 17: 86,358,571 (GRCm39) D659E probably damaging Het
Sycp3 A G 10: 88,298,394 (GRCm39) Q40R probably benign Het
Trip13 T C 13: 74,063,590 (GRCm39) S374G probably benign Het
Ubr4 T C 4: 139,208,149 (GRCm39) probably null Het
Ush2a G A 1: 188,090,715 (GRCm39) V449I probably benign Het
Vmn1r211 A T 13: 23,036,031 (GRCm39) V212D probably damaging Het
Vmn2r111 T A 17: 22,792,194 (GRCm39) I21F possibly damaging Het
Zmiz2 A T 11: 6,349,904 (GRCm39) I491F possibly damaging Het
Other mutations in Helq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Helq APN 5 100,912,948 (GRCm39) unclassified probably benign
IGL02142:Helq APN 5 100,930,960 (GRCm39) missense probably benign 0.01
IGL02172:Helq APN 5 100,938,013 (GRCm39) missense probably damaging 1.00
IGL02234:Helq APN 5 100,944,336 (GRCm39) missense possibly damaging 0.93
IGL03086:Helq APN 5 100,944,793 (GRCm39) missense possibly damaging 0.60
R0083:Helq UTSW 5 100,916,234 (GRCm39) nonsense probably null
R0108:Helq UTSW 5 100,916,234 (GRCm39) nonsense probably null
R0276:Helq UTSW 5 100,938,013 (GRCm39) missense probably damaging 1.00
R0359:Helq UTSW 5 100,938,066 (GRCm39) missense probably benign 0.01
R0383:Helq UTSW 5 100,927,031 (GRCm39) missense probably benign 0.28
R0554:Helq UTSW 5 100,938,066 (GRCm39) missense probably benign 0.01
R1289:Helq UTSW 5 100,944,330 (GRCm39) missense probably damaging 1.00
R1682:Helq UTSW 5 100,940,679 (GRCm39) missense probably benign 0.41
R1800:Helq UTSW 5 100,921,990 (GRCm39) missense probably benign 0.34
R1809:Helq UTSW 5 100,921,820 (GRCm39) missense probably damaging 0.97
R1838:Helq UTSW 5 100,919,745 (GRCm39) nonsense probably null
R3086:Helq UTSW 5 100,921,858 (GRCm39) missense probably benign
R3439:Helq UTSW 5 100,946,170 (GRCm39) missense probably damaging 0.97
R3735:Helq UTSW 5 100,938,054 (GRCm39) missense possibly damaging 0.64
R3736:Helq UTSW 5 100,938,054 (GRCm39) missense possibly damaging 0.64
R4172:Helq UTSW 5 100,919,713 (GRCm39) missense probably benign 0.03
R4835:Helq UTSW 5 100,922,029 (GRCm39) missense possibly damaging 0.82
R4855:Helq UTSW 5 100,931,025 (GRCm39) missense possibly damaging 0.89
R4908:Helq UTSW 5 100,910,507 (GRCm39) splice site probably null
R4973:Helq UTSW 5 100,940,737 (GRCm39) intron probably benign
R5561:Helq UTSW 5 100,934,916 (GRCm39) missense probably benign 0.06
R5583:Helq UTSW 5 100,910,459 (GRCm39) missense probably damaging 0.99
R5608:Helq UTSW 5 100,938,085 (GRCm39) missense probably damaging 1.00
R5682:Helq UTSW 5 100,933,170 (GRCm39) missense probably benign 0.04
R5875:Helq UTSW 5 100,944,336 (GRCm39) missense probably damaging 1.00
R6302:Helq UTSW 5 100,946,305 (GRCm39) missense probably damaging 0.96
R6344:Helq UTSW 5 100,914,594 (GRCm39) missense probably benign 0.27
R6446:Helq UTSW 5 100,916,250 (GRCm39) missense possibly damaging 0.64
R6825:Helq UTSW 5 100,940,561 (GRCm39) missense probably damaging 1.00
R7260:Helq UTSW 5 100,939,793 (GRCm39) missense probably damaging 1.00
R7323:Helq UTSW 5 100,931,051 (GRCm39) frame shift probably null
R7535:Helq UTSW 5 100,937,999 (GRCm39) splice site probably null
R7889:Helq UTSW 5 100,940,427 (GRCm39) splice site probably null
R8243:Helq UTSW 5 100,918,348 (GRCm39) missense possibly damaging 0.67
R9004:Helq UTSW 5 100,926,598 (GRCm39) unclassified probably benign
R9152:Helq UTSW 5 100,918,325 (GRCm39) missense probably benign 0.00
R9209:Helq UTSW 5 100,939,219 (GRCm39) missense probably damaging 1.00
R9209:Helq UTSW 5 100,939,218 (GRCm39) missense probably benign 0.44
R9223:Helq UTSW 5 100,946,303 (GRCm39) missense possibly damaging 0.85
R9301:Helq UTSW 5 100,927,158 (GRCm39) missense probably damaging 1.00
R9689:Helq UTSW 5 100,934,927 (GRCm39) missense possibly damaging 0.88
Z1176:Helq UTSW 5 100,914,632 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AGTCTTCACGTGGGGATCAG -3'
(R):5'- GCTGCAGCTCAGTATGTAACTTAC -3'

Sequencing Primer
(F):5'- TTCAGTCTCAGGACCAGCCAG -3'
(R):5'- GAACTCACCAAGAAGCTG -3'
Posted On 2021-04-30