Incidental Mutation 'R1646:Iqca1'
ID 173851
Institutional Source Beutler Lab
Gene Symbol Iqca1
Ensembl Gene ENSMUSG00000026301
Gene Name IQ motif containing with AAA domain 1
Synonyms 4930465P12Rik, 4930585L22Rik, Iqca
MMRRC Submission 039682-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1646 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 89969854-90081123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90067760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 164 (V164M)
Ref Sequence ENSEMBL: ENSMUSP00000108717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113094] [ENSMUST00000212394]
AlphaFold Q9CUL5
Predicted Effect probably damaging
Transcript: ENSMUST00000113094
AA Change: V164M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: V164M

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: V164M

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 96% (69/72)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T G 4: 63,302,129 (GRCm39) I581L probably benign Het
Cacnb4 A G 2: 52,364,912 (GRCm39) I117T possibly damaging Het
Capn1 A T 19: 6,047,760 (GRCm39) F434L probably benign Het
Cbs T C 17: 31,832,169 (GRCm39) T547A probably benign Het
Col6a5 A T 9: 105,739,948 (GRCm39) L2557* probably null Het
Dach1 A G 14: 98,406,550 (GRCm39) S66P unknown Het
Ddx31 T C 2: 28,782,532 (GRCm39) V625A probably benign Het
Dmxl1 T G 18: 50,095,328 (GRCm39) V2969G probably damaging Het
Eapp T A 12: 54,732,745 (GRCm39) K122* probably null Het
Elapor1 A T 3: 108,370,306 (GRCm39) S751T probably damaging Het
Epb41l5 G T 1: 119,477,752 (GRCm39) probably benign Het
Fat1 T C 8: 45,471,079 (GRCm39) S1628P probably damaging Het
Fgfr2 T A 7: 129,844,374 (GRCm39) E37V probably damaging Het
Fgfr4 A T 13: 55,313,777 (GRCm39) N529Y probably damaging Het
Fsip2 A T 2: 82,808,861 (GRCm39) T1727S probably benign Het
Gak A T 5: 108,750,720 (GRCm39) S397T probably damaging Het
Gm6040 T A 8: 21,407,113 (GRCm39) I36F possibly damaging Het
Grhl1 A G 12: 24,661,860 (GRCm39) D513G possibly damaging Het
Gstt1 T A 10: 75,619,940 (GRCm39) D219V possibly damaging Het
Hcfc2 T G 10: 82,536,861 (GRCm39) V91G probably damaging Het
Hells A T 19: 38,956,227 (GRCm39) I808L probably benign Het
Icmt T A 4: 152,384,172 (GRCm39) V110E possibly damaging Het
Ilrun A G 17: 28,012,934 (GRCm39) S88P probably damaging Het
Klri1 G A 6: 129,680,299 (GRCm39) P119S probably benign Het
Krt71 C A 15: 101,647,199 (GRCm39) probably null Het
Lpin1 A G 12: 16,623,659 (GRCm39) probably null Het
Macir A T 1: 97,573,531 (GRCm39) I178N probably damaging Het
Metap2 T C 10: 93,706,059 (GRCm39) H241R probably damaging Het
Myh15 A G 16: 49,015,931 (GRCm39) Y1869C probably damaging Het
Myo1h G A 5: 114,455,693 (GRCm39) G59E possibly damaging Het
Ncam2 T G 16: 81,262,594 (GRCm39) probably benign Het
Npat T C 9: 53,466,434 (GRCm39) V241A probably benign Het
Npbwr1 C A 1: 5,987,473 (GRCm39) V14L probably benign Het
Nup37 T A 10: 88,014,096 (GRCm39) V323E possibly damaging Het
Or11g27 A T 14: 50,771,040 (GRCm39) Q57L probably benign Het
Or5m9b A G 2: 85,905,960 (GRCm39) N292S probably damaging Het
Or5p59 C T 7: 107,702,798 (GRCm39) T94I probably benign Het
Or7a35 C A 10: 78,853,340 (GRCm39) Y61* probably null Het
Pdlim4 A T 11: 53,947,080 (GRCm39) L132Q possibly damaging Het
Ptcd3 T C 6: 71,875,379 (GRCm39) D201G probably benign Het
Ptk7 A T 17: 46,897,223 (GRCm39) F370I probably benign Het
Pus7l T C 15: 94,431,517 (GRCm39) N371D probably benign Het
Pzp G A 6: 128,480,518 (GRCm39) A589V probably benign Het
Rasef T A 4: 73,652,786 (GRCm39) R572W probably damaging Het
Reep5 T C 18: 34,482,712 (GRCm39) T166A probably benign Het
Rhov A G 2: 119,101,501 (GRCm39) V35A probably damaging Het
Ripk4 C T 16: 97,545,097 (GRCm39) G517R probably damaging Het
Rnasel A G 1: 153,630,800 (GRCm39) T439A probably damaging Het
Slamf9 A G 1: 172,304,907 (GRCm39) T174A probably benign Het
Slc12a9 A G 5: 137,321,411 (GRCm39) L414P probably damaging Het
Slf1 G A 13: 77,214,767 (GRCm39) R640* probably null Het
Slfn8 G T 11: 82,907,712 (GRCm39) P277Q probably damaging Het
Stpg2 T A 3: 139,125,463 (GRCm39) probably benign Het
Tm9sf3 A C 19: 41,211,618 (GRCm39) N408K possibly damaging Het
Trio A G 15: 27,758,433 (GRCm39) V2049A possibly damaging Het
Ttn A T 2: 76,645,077 (GRCm39) I11180N probably damaging Het
Ush2a T C 1: 188,148,018 (GRCm39) C982R probably damaging Het
Usp36 C T 11: 118,164,392 (GRCm39) V207M probably damaging Het
Uvrag T C 7: 98,767,431 (GRCm39) T67A probably damaging Het
Vasp G A 7: 18,994,903 (GRCm39) probably benign Het
Vmn2r115 T C 17: 23,578,513 (GRCm39) F662S probably damaging Het
Vmn2r54 A T 7: 12,366,434 (GRCm39) C167S probably damaging Het
Vmn2r71 C A 7: 85,270,476 (GRCm39) N547K probably damaging Het
Wasf2 A G 4: 132,903,902 (GRCm39) I37V probably benign Het
Wwc2 T C 8: 48,295,937 (GRCm39) E1111G unknown Het
Zfp317 A G 9: 19,558,608 (GRCm39) Y274C probably damaging Het
Zhx3 T C 2: 160,623,195 (GRCm39) Y324C probably damaging Het
Zzef1 T C 11: 72,754,862 (GRCm39) probably null Het
Other mutations in Iqca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Iqca1 APN 1 89,973,379 (GRCm39) missense probably benign 0.10
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
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
Predicted Primers PCR Primer
(F):5'- TGTTTCTCCAGGCTAAGCCAATAAACC -3'
(R):5'- CTTTAAGTCAGGGTCACAGTCTACAGC -3'

Sequencing Primer
(F):5'- GTGGAGTTTACTAACTCAACCCAG -3'
(R):5'- TGAGGCATCTCATGGGTTCA -3'
Posted On 2014-04-24