Incidental Mutation 'IGL03372:Iqca'
ID420340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqca
Ensembl Gene ENSMUSG00000026301
Gene NameIQ motif containing with AAA domain
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03372
Quality Score
Status
Chromosome1
Chromosomal Location90042132-90153401 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90144969 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 63 (I63T)
Ref Sequence ENSEMBL: ENSMUSP00000108717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113094] [ENSMUST00000212394]
Predicted Effect possibly damaging
Transcript: ENSMUST00000113094
AA Change: I63T

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: I63T

DomainStartEndE-ValueType
IQ 205 227 6.97e0 SMART
coiled coil region 340 380 N/A INTRINSIC
coiled coil region 425 450 N/A INTRINSIC
low complexity region 464 487 N/A INTRINSIC
AAA 567 706 1.08e-3 SMART
low complexity region 812 829 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211999
Predicted Effect possibly damaging
Transcript: ENSMUST00000212394
AA Change: I63T

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 130,017,569 A1161V probably benign Het
Alpi A G 1: 87,100,628 probably benign Het
Asxl1 A T 2: 153,400,413 N961I probably damaging Het
Bcl2l10 A G 9: 75,348,047 I49V probably benign Het
Bod1l T C 5: 41,805,235 probably benign Het
Ccl20 A G 1: 83,117,876 M54V probably benign Het
Cep72 A C 13: 74,043,518 L200V possibly damaging Het
Clic4 T C 4: 135,218,614 D164G probably damaging Het
Col5a3 G A 9: 20,775,328 P1334S unknown Het
Dab2 T C 15: 6,429,549 L293P probably damaging Het
Ddx50 A T 10: 62,643,330 S140T probably benign Het
Dnah6 A T 6: 73,075,850 M2897K probably benign Het
Dnmt3a A G 12: 3,902,666 E721G probably damaging Het
Esyt3 A T 9: 99,336,056 probably benign Het
Fat4 G T 3: 38,889,134 K725N possibly damaging Het
Fezf1 T C 6: 23,246,910 I308V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gapdhs T C 7: 30,733,249 probably benign Het
Gm10109 A T 7: 44,221,702 probably benign Het
Gpd2 G A 2: 57,355,507 V405I probably damaging Het
Gtf2e1 T C 16: 37,535,715 probably benign Het
Kcmf1 A C 6: 72,849,563 L161R probably damaging Het
Kif19a G T 11: 114,779,218 V80L probably damaging Het
Kif21a A T 15: 90,956,376 M1179K probably benign Het
Krtap19-2 A G 16: 88,873,886 probably benign Het
Ksr2 T A 5: 117,702,718 I575N possibly damaging Het
L3mbtl1 A T 2: 162,971,157 probably benign Het
Larp1b A T 3: 41,024,527 H6L possibly damaging Het
Map4k2 T A 19: 6,342,249 probably benign Het
Mdh1b T C 1: 63,719,995 H146R possibly damaging Het
Morc2a T C 11: 3,681,813 probably benign Het
Mvd A G 8: 122,443,374 probably benign Het
Myo7b C T 18: 31,998,601 S514N probably damaging Het
Nav1 A T 1: 135,450,903 I1610K probably damaging Het
Nbas T C 12: 13,534,472 L2095P probably damaging Het
Nrros T C 16: 32,144,770 N115S probably damaging Het
Olfr472 T C 7: 107,903,370 Y218H probably damaging Het
Otud6b A C 4: 14,812,519 I276R possibly damaging Het
P2rx6 G A 16: 17,567,492 E150K probably damaging Het
Pan2 T A 10: 128,315,127 L771Q probably benign Het
Pbrm1 T A 14: 31,085,019 N1087K probably benign Het
Pcdhb5 G T 18: 37,320,660 R31L probably benign Het
Proser3 A C 7: 30,543,568 S195A probably damaging Het
Rad50 T C 11: 53,695,294 K292E probably benign Het
Rbm27 G A 18: 42,305,716 R394H probably damaging Het
Samd9l A G 6: 3,375,314 I649T probably damaging Het
Skint3 G A 4: 112,255,906 probably benign Het
Slc4a4 T A 5: 89,156,426 L576Q probably damaging Het
Snx2 A G 18: 53,216,391 D408G probably damaging Het
Taar2 T C 10: 23,941,171 V203A probably benign Het
Tdrd6 C T 17: 43,625,568 V1530M probably damaging Het
Tsc2 A C 17: 24,619,470 L515R probably damaging Het
Unc13a A T 8: 71,655,709 M500K probably damaging Het
Vmn1r75 A G 7: 11,880,569 D76G probably benign Het
Whrn T C 4: 63,418,618 D127G probably damaging Het
Other mutations in Iqca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Iqca APN 1 90045657 missense probably benign 0.10
IGL01367:Iqca APN 1 90070628 splice site probably benign
IGL01545:Iqca APN 1 90045642 missense probably benign
IGL01797:Iqca APN 1 90144819 critical splice donor site probably null
IGL02098:Iqca APN 1 90047941 missense probably damaging 0.96
IGL02194:Iqca APN 1 90045663 missense probably benign 0.16
IGL03230:Iqca APN 1 90145002 missense probably damaging 1.00
IGL03259:Iqca APN 1 90052434 missense probably damaging 1.00
R0383:Iqca UTSW 1 90142707 missense probably damaging 1.00
R0610:Iqca UTSW 1 90142731 missense probably null 0.97
R0685:Iqca UTSW 1 90142731 missense probably null 0.97
R0798:Iqca UTSW 1 90142731 missense probably null 0.97
R0799:Iqca UTSW 1 90142731 missense probably null 0.97
R0800:Iqca UTSW 1 90142731 missense probably null 0.97
R0801:Iqca UTSW 1 90142731 missense probably null 0.97
R0825:Iqca UTSW 1 90142731 missense probably null 0.97
R0826:Iqca UTSW 1 90142731 missense probably null 0.97
R0827:Iqca UTSW 1 90142731 missense probably null 0.97
R0862:Iqca UTSW 1 90142731 missense probably null 0.97
R0863:Iqca UTSW 1 90142731 missense probably null 0.97
R0864:Iqca UTSW 1 90142731 missense probably null 0.97
R0960:Iqca UTSW 1 90142731 missense probably null 0.97
R0961:Iqca UTSW 1 90142731 missense probably null 0.97
R0962:Iqca UTSW 1 90142731 missense probably null 0.97
R0963:Iqca UTSW 1 90142731 missense probably null 0.97
R1101:Iqca UTSW 1 90142731 missense probably null 0.97
R1344:Iqca UTSW 1 90142731 missense probably null 0.97
R1523:Iqca UTSW 1 90142731 missense probably null 0.97
R1646:Iqca UTSW 1 90140038 missense probably damaging 0.98
R1682:Iqca UTSW 1 90142731 missense probably null 0.97
R1742:Iqca UTSW 1 90098051 missense probably benign 0.01
R1774:Iqca UTSW 1 90080903 missense probably benign 0.02
R1775:Iqca UTSW 1 90081416 missense probably damaging 1.00
R2011:Iqca UTSW 1 90045626 missense probably benign 0.00
R2065:Iqca UTSW 1 90130231 missense probably benign 0.01
R2156:Iqca UTSW 1 90089516 missense possibly damaging 0.78
R2186:Iqca UTSW 1 90081344 missense probably benign 0.06
R3872:Iqca UTSW 1 90089481 missense probably damaging 1.00
R4308:Iqca UTSW 1 90144897 missense probably damaging 1.00
R4578:Iqca UTSW 1 90073750 missense probably damaging 0.98
R4737:Iqca UTSW 1 90077822 missense probably damaging 0.99
R4867:Iqca UTSW 1 90089504 missense probably benign 0.00
R4884:Iqca UTSW 1 90140037 missense probably benign 0.10
R4887:Iqca UTSW 1 90045701 missense probably damaging 1.00
R5352:Iqca UTSW 1 90130196 missense probably benign 0.00
R5733:Iqca UTSW 1 90070535 missense probably damaging 0.97
R5838:Iqca UTSW 1 90144945 missense probably benign 0.22
R5951:Iqca UTSW 1 90140097 intron probably null
R5957:Iqca UTSW 1 90080948 missense probably damaging 1.00
R6696:Iqca UTSW 1 90130200 missense probably benign
R7240:Iqca UTSW 1 90070550 missense possibly damaging 0.88
R7769:Iqca UTSW 1 90077810 missense possibly damaging 0.82
R7841:Iqca UTSW 1 90059615 missense
R7924:Iqca UTSW 1 90059615 missense
R8069:Iqca UTSW 1 90045744 missense probably damaging 0.96
R8103:Iqca UTSW 1 90059608 missense
Z1176:Iqca UTSW 1 90045725 missense probably benign 0.26
Posted On2016-08-02