Incidental Mutation 'R6825:Helq'
ID 534093
Institutional Source Beutler Lab
Gene Symbol Helq
Ensembl Gene ENSMUSG00000035266
Gene Name helicase, POLQ-like
Synonyms Hel308, D430018E21Rik
MMRRC Submission 044937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6825 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 100910011-100946464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100940561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 346 (I346N)
Ref Sequence ENSEMBL: ENSMUSP00000041599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044684] [ENSMUST00000151201]
AlphaFold Q2VPA6
Predicted Effect probably damaging
Transcript: ENSMUST00000044684
AA Change: I346N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: I346N

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
SMART Domains Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: I344N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,954,654 (GRCm39) S206T probably benign Het
Aasdh A T 5: 77,036,696 (GRCm39) probably null Het
Adam10 G T 9: 70,668,884 (GRCm39) C400F probably damaging Het
Ankle2 A T 5: 110,398,635 (GRCm39) R561S probably null Het
Arhgef5 C T 6: 43,251,895 (GRCm39) T882I probably damaging Het
Arpc1a A T 5: 145,032,936 (GRCm39) K82* probably null Het
Card11 C A 5: 140,863,837 (GRCm39) R967L probably benign Het
Ccdc82 G T 9: 13,251,601 (GRCm39) probably benign Het
Cebpz T C 17: 79,227,392 (GRCm39) D1026G probably damaging Het
Cit A T 5: 116,119,833 (GRCm39) Q1321L probably damaging Het
Clcn2 C A 16: 20,528,408 (GRCm39) probably benign Het
Csf3 G C 11: 98,593,273 (GRCm39) G130A probably damaging Het
Cul2 T A 18: 3,434,946 (GRCm39) S737T probably damaging Het
Cyp1a2 G A 9: 57,584,543 (GRCm39) H504Y probably benign Het
Cyp3a44 G A 5: 145,716,396 (GRCm39) P398L probably damaging Het
Dnah8 T C 17: 30,960,147 (GRCm39) I2206T probably damaging Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Epb41l5 A T 1: 119,547,931 (GRCm39) D157E possibly damaging Het
Ercc8 T C 13: 108,295,343 (GRCm39) S6P probably damaging Het
Faxc T C 4: 21,931,672 (GRCm39) S37P probably benign Het
Fbxl19 T A 7: 127,349,187 (GRCm39) I119K probably damaging Het
Frmd4b A G 6: 97,302,437 (GRCm39) V195A possibly damaging Het
Fut9 A T 4: 25,619,925 (GRCm39) S296R probably benign Het
Gas6 T C 8: 13,533,674 (GRCm39) N112D probably benign Het
H2-Q1 T C 17: 35,540,028 (GRCm39) L99P probably damaging Het
Hepacam A G 9: 37,278,976 (GRCm39) K2E possibly damaging Het
Itgae T C 11: 73,009,322 (GRCm39) M502T possibly damaging Het
Kmt2a G A 9: 44,729,704 (GRCm39) probably benign Het
Lhx9 ACC ACCC 1: 138,769,544 (GRCm39) probably null Het
Macf1 A T 4: 123,277,015 (GRCm39) probably null Het
Mgat4a T A 1: 37,503,515 (GRCm39) K220* probably null Het
Or2t43 T C 11: 58,457,476 (GRCm39) R232G possibly damaging Het
Or4c104 T C 2: 88,586,255 (GRCm39) I255V possibly damaging Het
Or5b3 G A 19: 13,388,514 (GRCm39) V194I probably benign Het
Pex5 A T 6: 124,391,340 (GRCm39) M18K probably damaging Het
Phlda3 T C 1: 135,694,562 (GRCm39) *126Q probably null Het
Plxna1 G T 6: 89,297,597 (GRCm39) D1862E probably benign Het
Pold4 A T 19: 4,282,164 (GRCm39) I7F possibly damaging Het
Prkaa1 A T 15: 5,173,432 (GRCm39) I19F possibly damaging Het
Prl7d1 T G 13: 27,894,125 (GRCm39) E148A probably benign Het
Prr14l A T 5: 32,985,892 (GRCm39) V1201E possibly damaging Het
Rab3gap1 T C 1: 127,858,158 (GRCm39) C510R probably damaging Het
Rhbdf1 C T 11: 32,159,970 (GRCm39) R802H probably damaging Het
Rpl18a A C 8: 71,348,836 (GRCm39) F47V probably damaging Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Sspo G A 6: 48,442,459 (GRCm39) G1985R probably benign Het
Tcaf2 C T 6: 42,606,452 (GRCm39) A501T probably benign Het
Tcerg1 A G 18: 42,681,542 (GRCm39) D563G probably damaging Het
Tdh G A 14: 63,733,281 (GRCm39) T155M probably damaging Het
Tenm2 T C 11: 35,937,711 (GRCm39) N1654S probably benign Het
Tlr5 A T 1: 182,800,609 (GRCm39) probably benign Het
Tns1 G T 1: 74,041,482 (GRCm39) C136* probably null Het
Tomm5 A T 4: 45,106,443 (GRCm39) probably null Het
Trio A T 15: 27,889,394 (GRCm39) F512I probably damaging Het
Ttll5 A T 12: 85,930,102 (GRCm39) probably null Het
Upp1 T A 11: 9,081,707 (GRCm39) H81Q probably benign Het
Usp42 A G 5: 143,713,562 (GRCm39) S71P probably damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Zap70 A G 1: 36,817,471 (GRCm39) Y238C probably damaging Het
Zfp398 A G 6: 47,843,265 (GRCm39) D307G 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
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
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'- CATTTAAGAGACCGCTCAAAGC -3'
(R):5'- AGACGGGAAAATAATCTCTCGC -3'

Sequencing Primer
(F):5'- GAGACCGCTCAAAGCAACTTAGG -3'
(R):5'- CGGGAAAATAATCTCTCGCATTTTTC -3'
Posted On 2018-09-12