Incidental Mutation 'R5608:Helq'
ID 439381
Institutional Source Beutler Lab
Gene Symbol Helq
Ensembl Gene ENSMUSG00000035266
Gene Name helicase, POLQ-like
Synonyms Hel308, D430018E21Rik
MMRRC Submission 043272-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5608 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 100910011-100946464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100938085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 454 (G454S)
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: G454S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: G454S

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: G452S
SMART Domains Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: G452S

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 noncoding transcript
Transcript: ENSMUST00000144948
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: ENSMUST00000198409
Meta Mutation Damage Score 0.4172 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 95% (54/57)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 T C 10: 80,178,781 (GRCm39) D199G probably benign Het
Adgrl1 G T 8: 84,663,886 (GRCm39) G1118W probably damaging Het
Adgrv1 T C 13: 81,303,395 (GRCm39) E117G probably damaging Het
Alkbh7 A T 17: 57,305,446 (GRCm39) I88F probably damaging Het
Ankrd26 C A 6: 118,488,583 (GRCm39) D1359Y probably damaging Het
Apoo-ps T C 13: 107,550,709 (GRCm39) noncoding transcript Het
Arfgap2 G A 2: 91,100,547 (GRCm39) R298H probably damaging Het
Birc6 G A 17: 74,920,539 (GRCm39) V2109I probably damaging Het
Blvrb C T 7: 27,158,894 (GRCm39) P98L probably benign Het
Bmpr1b C A 3: 141,563,283 (GRCm39) M220I possibly damaging Het
Bpifa1 T C 2: 153,989,495 (GRCm39) probably benign Het
Capn7 A G 14: 31,092,664 (GRCm39) Y737C probably damaging Het
Cdh13 A T 8: 119,484,213 (GRCm39) D158V probably benign Het
Cenpe C A 3: 134,940,837 (GRCm39) S662* probably null Het
Colec12 T A 18: 9,848,267 (GRCm39) D148E possibly damaging Het
Dennd5a C A 7: 109,518,630 (GRCm39) E480* probably null Het
Dpysl4 T C 7: 138,678,459 (GRCm39) V473A probably damaging Het
Dyrk3 T C 1: 131,056,452 (GRCm39) S574G probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
H2-Aa T C 17: 34,502,816 (GRCm39) T117A possibly damaging Het
Incenp CGCTGCTGCTGC CGCTGCTGCTGCTGC 19: 9,871,232 (GRCm39) probably benign Het
Ktn1 TTGTTGTCTTTGTGTT TTGTT 14: 47,971,554 (GRCm39) probably benign Het
Lig1 C A 7: 13,039,933 (GRCm39) T715N probably damaging Het
Lrrc31 C A 3: 30,743,994 (GRCm39) probably null Het
Ltbp2 A C 12: 84,834,238 (GRCm39) probably null Het
Marcks A T 10: 37,012,912 (GRCm39) V41E probably damaging Het
Mex3c T A 18: 73,723,014 (GRCm39) M369K possibly damaging Het
Msh6 A G 17: 88,294,329 (GRCm39) D1028G probably damaging Het
Nhlrc3 C T 3: 53,369,732 (GRCm39) probably null Het
Or1n1b A G 2: 36,780,527 (GRCm39) F111S probably damaging Het
Or52s1b T C 7: 102,822,056 (GRCm39) T263A probably damaging Het
Or52z12 G A 7: 103,233,506 (GRCm39) W92* probably null Het
Or8b8 G A 9: 37,809,078 (GRCm39) C126Y probably damaging Het
Pcdhga6 A G 18: 37,840,514 (GRCm39) N78S possibly damaging Het
Plag1 T A 4: 3,905,463 (GRCm39) K76* probably null Het
Ptpn21 T A 12: 98,655,036 (GRCm39) T644S probably benign Het
Qrfpr A G 3: 36,235,114 (GRCm39) V292A possibly damaging Het
Rbbp6 T A 7: 122,596,309 (GRCm39) V617E probably damaging Het
Rnf157 A T 11: 116,287,146 (GRCm39) probably null Het
Serpina5 A C 12: 104,070,003 (GRCm39) Y300S probably damaging Het
Slc41a3 A G 6: 90,617,889 (GRCm39) K279R probably benign Het
Smndc1 A G 19: 53,372,084 (GRCm39) V110A probably benign Het
Spata31e2 T C 1: 26,722,129 (GRCm39) Q1017R probably damaging Het
Tubgcp6 A G 15: 88,995,353 (GRCm39) V419A probably benign Het
Uggt2 C T 14: 119,326,611 (GRCm39) G200D possibly damaging Het
Utrn A T 10: 12,547,581 (GRCm39) S1620T probably benign Het
Xkr4 T C 1: 3,741,603 (GRCm39) probably benign Het
Zscan22 G A 7: 12,640,919 (GRCm39) G388S 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
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
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'- ACTCAGCAGTCTTACAGTACTCC -3'
(R):5'- GGTCAGACTTTGGTCACTTCAAG -3'

Sequencing Primer
(F):5'- ACAGTACTCCATGCTCGCCG -3'
(R):5'- AGACTTTGGTCACTTCAAGATCTTC -3'
Posted On 2016-10-26