Incidental Mutation 'IGL00966:Iqca1'
ID 26734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqca1
Ensembl Gene ENSMUSG00000026301
Gene Name IQ motif containing with AAA domain 1
Synonyms 4930465P12Rik, 4930585L22Rik, Iqca
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00966
Quality Score
Status
Chromosome 1
Chromosomal Location 89969854-90081123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89973379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 770 (I770F)
Ref Sequence ENSEMBL: ENSMUSP00000108717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113094] [ENSMUST00000212394]
AlphaFold Q9CUL5
Predicted Effect probably benign
Transcript: ENSMUST00000113094
AA Change: I770F

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: I770F

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: ENSMUST00000189690
Predicted Effect probably benign
Transcript: ENSMUST00000212394
AA Change: I798F

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212859
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Iqca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Iqca1 APN 1 89,998,350 (GRCm39) splice site probably benign
IGL01545:Iqca1 APN 1 89,973,364 (GRCm39) missense probably benign
IGL01797:Iqca1 APN 1 90,072,541 (GRCm39) critical splice donor site probably null
IGL02098:Iqca1 APN 1 89,975,663 (GRCm39) missense probably damaging 0.96
IGL02194:Iqca1 APN 1 89,973,385 (GRCm39) missense probably benign 0.16
IGL03230:Iqca1 APN 1 90,072,724 (GRCm39) missense probably damaging 1.00
IGL03259:Iqca1 APN 1 89,980,156 (GRCm39) missense probably damaging 1.00
IGL03372:Iqca1 APN 1 90,072,691 (GRCm39) missense possibly damaging 0.80
R0383:Iqca1 UTSW 1 90,070,429 (GRCm39) missense probably damaging 1.00
R0610:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0685:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0798:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0799:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0800:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0801:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0825:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0826:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0827:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0862:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0863:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0864:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0960:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0961:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0962:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R0963:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R1101:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R1344:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R1523:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R1646:Iqca1 UTSW 1 90,067,760 (GRCm39) missense probably damaging 0.98
R1682:Iqca1 UTSW 1 90,070,453 (GRCm39) missense probably null 0.97
R1742:Iqca1 UTSW 1 90,025,773 (GRCm39) missense probably benign 0.01
R1774:Iqca1 UTSW 1 90,008,625 (GRCm39) missense probably benign 0.02
R1775:Iqca1 UTSW 1 90,009,138 (GRCm39) missense probably damaging 1.00
R2011:Iqca1 UTSW 1 89,973,348 (GRCm39) missense probably benign 0.00
R2065:Iqca1 UTSW 1 90,057,953 (GRCm39) missense probably benign 0.01
R2156:Iqca1 UTSW 1 90,017,238 (GRCm39) missense possibly damaging 0.78
R2186:Iqca1 UTSW 1 90,009,066 (GRCm39) missense probably benign 0.06
R3872:Iqca1 UTSW 1 90,017,203 (GRCm39) missense probably damaging 1.00
R4308:Iqca1 UTSW 1 90,072,619 (GRCm39) missense probably damaging 1.00
R4578:Iqca1 UTSW 1 90,001,472 (GRCm39) missense probably damaging 0.98
R4737:Iqca1 UTSW 1 90,005,544 (GRCm39) missense probably damaging 0.99
R4867:Iqca1 UTSW 1 90,017,226 (GRCm39) missense probably benign 0.00
R4884:Iqca1 UTSW 1 90,067,759 (GRCm39) missense probably benign 0.10
R4887:Iqca1 UTSW 1 89,973,423 (GRCm39) missense probably damaging 1.00
R5352:Iqca1 UTSW 1 90,057,918 (GRCm39) missense probably benign 0.00
R5733:Iqca1 UTSW 1 89,998,257 (GRCm39) missense probably damaging 0.97
R5838:Iqca1 UTSW 1 90,072,667 (GRCm39) missense probably benign 0.22
R5951:Iqca1 UTSW 1 90,067,819 (GRCm39) splice site probably null
R5957:Iqca1 UTSW 1 90,008,670 (GRCm39) missense probably damaging 1.00
R6696:Iqca1 UTSW 1 90,057,922 (GRCm39) missense probably benign
R7240:Iqca1 UTSW 1 89,998,272 (GRCm39) missense possibly damaging 0.88
R7769:Iqca1 UTSW 1 90,005,532 (GRCm39) missense possibly damaging 0.82
R7841:Iqca1 UTSW 1 89,987,337 (GRCm39) missense
R8069:Iqca1 UTSW 1 89,973,466 (GRCm39) missense probably damaging 0.96
R8103:Iqca1 UTSW 1 89,987,330 (GRCm39) missense
R8932:Iqca1 UTSW 1 90,067,750 (GRCm39) missense probably damaging 1.00
R8963:Iqca1 UTSW 1 90,067,649 (GRCm39) missense probably benign 0.02
R9055:Iqca1 UTSW 1 89,998,335 (GRCm39) missense probably benign 0.02
R9168:Iqca1 UTSW 1 90,065,937 (GRCm39) missense probably damaging 0.98
R9342:Iqca1 UTSW 1 90,072,688 (GRCm39) missense probably damaging 0.99
R9647:Iqca1 UTSW 1 89,998,258 (GRCm39) missense probably benign 0.15
Z1176:Iqca1 UTSW 1 89,973,447 (GRCm39) missense probably benign 0.26
Posted On 2013-04-17