Incidental Mutation 'IGL02234:Helq'
ID285852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Helq
Ensembl Gene ENSMUSG00000035266
Gene Namehelicase, POLQ-like
SynonymsD430018E21Rik, Hel308
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02234
Quality Score
Status
Chromosome5
Chromosomal Location100762145-100798598 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100796470 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 258 (I258T)
Ref Sequence ENSEMBL: ENSMUSP00000118493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016977] [ENSMUST00000044684] [ENSMUST00000112898] [ENSMUST00000112901] [ENSMUST00000151201] [ENSMUST00000198453]
Predicted Effect probably benign
Transcript: ENSMUST00000016977
SMART Domains Protein: ENSMUSP00000016977
Gene: ENSMUSG00000016833

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 70 121 1.9e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000044684
AA Change: I258T

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: I258T

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: ENSMUST00000112898
Predicted Effect probably benign
Transcript: ENSMUST00000112901
SMART Domains Protein: ENSMUSP00000108522
Gene: ENSMUSG00000016833

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 67 119 9.6e-25 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000133845
AA Change: I256T
SMART Domains Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: I256T

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: ENSMUST00000140296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144948
Predicted Effect possibly damaging
Transcript: ENSMUST00000151201
AA Change: I258T

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118493
Gene: ENSMUSG00000035266
AA Change: I258T

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198409
Predicted Effect probably benign
Transcript: ENSMUST00000198453
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,668,220 T1010M possibly damaging Het
Atr A G 9: 95,947,250 probably benign Het
Cdc42bpa A T 1: 180,151,191 K1585* probably null Het
Cdh19 T C 1: 110,932,226 D175G probably damaging Het
Celsr3 G T 9: 108,829,960 R1214L probably benign Het
Chchd1 T C 14: 20,703,410 probably null Het
Col4a1 T C 8: 11,216,713 K1165E probably damaging Het
Col6a4 A G 9: 106,013,432 F1888L possibly damaging Het
Csmd3 C A 15: 47,948,116 R1193L probably damaging Het
Cyp2d11 T A 15: 82,390,139 H347L probably benign Het
Cyp4f13 A G 17: 32,924,774 probably benign Het
Dopey2 T C 16: 93,752,151 V193A probably benign Het
Dus4l T C 12: 31,641,496 probably benign Het
Epc1 G A 18: 6,439,938 H79Y probably damaging Het
Gm12588 T A 11: 121,908,325 Het
Gpr107 T C 2: 31,177,833 Y222H probably damaging Het
Gzmn C T 14: 56,169,007 probably null Het
Hsp90ab1 T C 17: 45,569,735 K137R probably benign Het
Htr1f T A 16: 64,926,067 R287S probably damaging Het
Il20ra A C 10: 19,749,270 D99A probably damaging Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Mboat7 A G 7: 3,691,351 Y34H probably damaging Het
Mid2 T C X: 140,763,669 S646P probably damaging Het
Msh6 T C 17: 87,986,801 S995P probably damaging Het
Mtmr10 A G 7: 64,299,602 I108V probably benign Het
Muc6 G A 7: 141,640,575 T1395M probably benign Het
Nlrp4f A G 13: 65,194,488 F448L probably damaging Het
Odc1 C A 12: 17,548,620 D220E possibly damaging Het
Olfr1080 T C 2: 86,553,266 N286S probably damaging Het
Pax7 A G 4: 139,828,590 I189T probably damaging Het
Pcdh12 T A 18: 38,283,535 H179L probably damaging Het
Pcdh15 A T 10: 74,631,862 M1836L probably benign Het
Psmc5 T C 11: 106,263,010 V390A probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rpgrip1 A G 14: 52,131,309 probably benign Het
Sema5a C T 15: 32,679,172 R866C probably damaging Het
Stox2 A G 8: 47,193,612 F271S probably damaging Het
Tpgs2 T C 18: 25,149,244 probably null Het
Ttll8 T A 15: 88,914,049 I828F possibly damaging Het
Vmn1r7 T C 6: 57,024,552 Y241C probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Helq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Helq APN 5 100765082 unclassified probably benign
IGL02142:Helq APN 5 100783094 missense probably benign 0.01
IGL02172:Helq APN 5 100790147 missense probably damaging 1.00
IGL03086:Helq APN 5 100796927 missense possibly damaging 0.60
R0083:Helq UTSW 5 100768368 nonsense probably null
R0108:Helq UTSW 5 100768368 nonsense probably null
R0276:Helq UTSW 5 100790147 missense probably damaging 1.00
R0359:Helq UTSW 5 100790200 missense probably benign 0.01
R0383:Helq UTSW 5 100779165 missense probably benign 0.28
R0554:Helq UTSW 5 100790200 missense probably benign 0.01
R1289:Helq UTSW 5 100796464 missense probably damaging 1.00
R1682:Helq UTSW 5 100792813 missense probably benign 0.41
R1800:Helq UTSW 5 100774124 missense probably benign 0.34
R1809:Helq UTSW 5 100773954 missense probably damaging 0.97
R1838:Helq UTSW 5 100771879 nonsense probably null
R3086:Helq UTSW 5 100773992 missense probably benign
R3439:Helq UTSW 5 100798304 missense probably damaging 0.97
R3735:Helq UTSW 5 100790188 missense possibly damaging 0.64
R3736:Helq UTSW 5 100790188 missense possibly damaging 0.64
R4172:Helq UTSW 5 100771847 missense probably benign 0.03
R4835:Helq UTSW 5 100774163 missense possibly damaging 0.82
R4855:Helq UTSW 5 100783159 missense possibly damaging 0.89
R4908:Helq UTSW 5 100762641 splice site probably null
R4973:Helq UTSW 5 100792871 intron probably benign
R5561:Helq UTSW 5 100787050 missense probably benign 0.06
R5583:Helq UTSW 5 100762593 missense probably damaging 0.99
R5608:Helq UTSW 5 100790219 missense probably damaging 1.00
R5682:Helq UTSW 5 100785304 missense probably benign 0.04
R5875:Helq UTSW 5 100796470 missense probably damaging 1.00
R6302:Helq UTSW 5 100798439 missense probably damaging 0.96
R6344:Helq UTSW 5 100766728 missense probably benign 0.27
R6446:Helq UTSW 5 100768384 missense possibly damaging 0.64
R6825:Helq UTSW 5 100792695 missense probably damaging 1.00
R7260:Helq UTSW 5 100791927 missense probably damaging 1.00
R7323:Helq UTSW 5 100783185 frame shift probably null
R7535:Helq UTSW 5 100790133 splice site probably null
R7972:Helq UTSW 5 100792561 intron probably null
Z1176:Helq UTSW 5 100766766 missense possibly damaging 0.88
Posted On2015-04-16