Incidental Mutation 'R5682:Helq'
ID 443098
Institutional Source Beutler Lab
Gene Symbol Helq
Ensembl Gene ENSMUSG00000035266
Gene Name helicase, POLQ-like
Synonyms Hel308, D430018E21Rik
MMRRC Submission 043318-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5682 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 100910011-100946464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100933170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 555 (M555L)
Ref Sequence ENSEMBL: ENSMUSP00000041599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044684] [ENSMUST00000151201]
AlphaFold Q2VPA6
Predicted Effect probably benign
Transcript: ENSMUST00000044684
AA Change: M555L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: M555L

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 unknown
Transcript: ENSMUST00000133845
AA Change: M553L
SMART Domains Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: M553L

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: ENSMUST00000151201
SMART Domains Protein: ENSMUSP00000118493
Gene: ENSMUSG00000035266

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198409
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 95.3%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,283,723 (GRCm39) S7T probably benign Het
Acot4 G A 12: 84,085,576 (GRCm39) V98M probably damaging Het
Acsm2 A T 7: 119,162,774 (GRCm39) N41I probably benign Het
Adamtsl3 A T 7: 82,255,758 (GRCm39) N1590I probably damaging Het
Ank3 G A 10: 69,729,347 (GRCm39) G714R probably damaging Het
Armh4 T C 14: 49,989,043 (GRCm39) D642G probably damaging Het
Ash1l G A 3: 88,914,914 (GRCm39) R1848Q probably damaging Het
Atp1a4 A T 1: 172,081,730 (GRCm39) Y141N probably damaging Het
Atxn3 A T 12: 101,924,406 (GRCm39) I1N probably damaging Het
Avil A C 10: 126,849,973 (GRCm39) Q608P probably damaging Het
Axin1 T C 17: 26,406,775 (GRCm39) V456A probably benign Het
Cacna1g A G 11: 94,349,940 (GRCm39) L635P probably damaging Het
Card11 G A 5: 140,888,666 (GRCm39) Q231* probably null Het
Ccdc162 G A 10: 41,432,799 (GRCm39) R500* probably null Het
Cdh24 T C 14: 54,874,805 (GRCm39) D400G probably damaging Het
Cep112 T C 11: 108,361,138 (GRCm39) L164P probably damaging Het
Corin A G 5: 72,579,497 (GRCm39) S224P possibly damaging Het
Csgalnact2 T C 6: 118,097,953 (GRCm39) Y371C probably damaging Het
Cspg4 A T 9: 56,793,480 (GRCm39) E405V probably benign Het
Ctnna3 T A 10: 64,709,085 (GRCm39) M708K probably damaging Het
Cyp7a1 T A 4: 6,268,429 (GRCm39) Y432F probably benign Het
Dcaf11 T A 14: 55,800,883 (GRCm39) V113E probably damaging Het
Dhx29 T C 13: 113,067,383 (GRCm39) I88T probably damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Elmo2 A G 2: 165,139,330 (GRCm39) F406L probably damaging Het
Eps15l1 G A 8: 73,125,592 (GRCm39) Q648* probably null Het
Fam171a1 G A 2: 3,227,126 (GRCm39) R753Q probably damaging Het
Figla T A 6: 85,995,604 (GRCm39) V86E probably damaging Het
Galnt7 C A 8: 58,036,967 (GRCm39) E141* probably null Het
Garnl3 A G 2: 32,944,185 (GRCm39) Y125H probably damaging Het
Gnb5 A G 9: 75,234,523 (GRCm39) D74G probably damaging Het
Grk1 A T 8: 13,464,351 (GRCm39) I408F possibly damaging Het
Has1 A T 17: 18,064,425 (GRCm39) W405R possibly damaging Het
Hdac5 A G 11: 102,104,749 (GRCm39) probably benign Het
Hipk2 T C 6: 38,714,408 (GRCm39) N556S possibly damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Ing3 T C 6: 21,968,949 (GRCm39) S144P probably damaging Het
Itgb1 G A 8: 129,453,549 (GRCm39) probably null Het
Kcnh4 A T 11: 100,640,628 (GRCm39) M466K possibly damaging Het
Krit1 T A 5: 3,880,737 (GRCm39) N565K probably damaging Het
Limk1 A C 5: 134,694,059 (GRCm39) probably null Het
Lrif1 T C 3: 106,639,884 (GRCm39) I323T possibly damaging Het
Macf1 T C 4: 123,328,552 (GRCm39) E1811G probably damaging Het
Mctp2 A C 7: 71,895,207 (GRCm39) probably null Het
Mmp21 A G 7: 133,276,358 (GRCm39) I495T probably benign Het
Mpz A T 1: 170,986,463 (GRCm39) T126S possibly damaging Het
Napsa A G 7: 44,234,768 (GRCm39) Y301C possibly damaging Het
Ncbp1 T A 4: 46,170,474 (GRCm39) probably benign Het
Nup160 A G 2: 90,510,155 (GRCm39) E47G probably benign Het
Or8b56 A G 9: 38,739,424 (GRCm39) I146V probably benign Het
Pcdha11 A G 18: 37,144,502 (GRCm39) K198E probably damaging Het
Pcdha3 A G 18: 37,081,040 (GRCm39) D594G probably damaging Het
Pdcd5 G A 7: 35,346,613 (GRCm39) probably benign Het
Pdhx A T 2: 102,865,685 (GRCm39) S166T probably benign Het
Pigc A G 1: 161,798,516 (GRCm39) Y166C probably damaging Het
Prkch C T 12: 73,744,724 (GRCm39) H246Y probably damaging Het
Ptk2 A T 15: 73,134,413 (GRCm39) L562* probably null Het
Rab3ip C T 10: 116,743,008 (GRCm39) W439* probably null Het
Rasef T A 4: 73,659,208 (GRCm39) R435* probably null Het
Rnf103 C T 6: 71,485,708 (GRCm39) probably benign Het
Rtel1 T C 2: 180,991,765 (GRCm39) F388L probably benign Het
Sds A C 5: 120,621,784 (GRCm39) S309R possibly damaging Het
Sgip1 T A 4: 102,824,847 (GRCm39) D736E possibly damaging Het
Sgms2 A G 3: 131,118,611 (GRCm39) Y291H probably damaging Het
Sgsm3 A G 15: 80,895,661 (GRCm39) probably null Het
Siglec1 T A 2: 130,925,930 (GRCm39) I259F probably damaging Het
Sik2 G A 9: 50,828,382 (GRCm39) P220L probably damaging Het
Slc29a3 A G 10: 60,551,991 (GRCm39) V351A probably benign Het
Slc36a3 A G 11: 55,016,489 (GRCm39) S369P probably benign Het
Srgap1 A T 10: 121,640,919 (GRCm39) M649K probably damaging Het
Thnsl1 A G 2: 21,216,879 (GRCm39) E211G possibly damaging Het
Tmprss9 A G 10: 80,733,207 (GRCm39) probably null Het
Tpgs1 G A 10: 79,511,421 (GRCm39) V188M probably damaging Het
Vmn1r201 G T 13: 22,659,355 (GRCm39) V190F probably damaging Het
Vmn1r64 A T 7: 5,886,622 (GRCm39) L307Q possibly damaging Het
Wbp11 T C 6: 136,791,252 (GRCm39) probably benign Het
Wdr35 A G 12: 9,031,125 (GRCm39) Y134C probably damaging Het
Zan G T 5: 137,412,521 (GRCm39) C3263* probably null Het
Zc3h12c G T 9: 52,037,876 (GRCm39) D301E probably damaging Het
Zfp365 A C 10: 67,745,637 (GRCm39) L47R probably damaging Het
Zmym6 C T 4: 126,998,200 (GRCm39) P412L probably 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
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
R8720:Helq UTSW 5 100,914,561 (GRCm39) missense probably damaging 1.00
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'- GGTGGTCGCTCTCTTACAAC -3'
(R):5'- AGATACTGGTGATGGTTTACATGTC -3'

Sequencing Primer
(F):5'- CATTAGTGCGAATTTCAGTTAGGC -3'
(R):5'- GTCTTTCAAGTCACAATTCGTTGTTG -3'
Posted On 2016-11-09