Incidental Mutation 'R0383:Iqca1'
ID 31048
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 038589-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0383 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 89969854-90081123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90070429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 141 (I141N)
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: I141N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: I141N

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 probably damaging
Transcript: ENSMUST00000212394
AA Change: I141N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.6%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik G T 11: 80,254,767 (GRCm39) Y351* probably null Het
Aadac G T 3: 59,943,368 (GRCm39) R91L possibly damaging Het
Adgrg1 T A 8: 95,738,370 (GRCm39) F621Y probably damaging Het
Ankmy1 G T 1: 92,812,775 (GRCm39) D511E probably benign Het
Anks4b A T 7: 119,782,097 (GRCm39) D376V probably damaging Het
Aox1 G T 1: 58,100,400 (GRCm39) C399F probably benign Het
Arfgef1 C T 1: 10,269,067 (GRCm39) probably null Het
Arhgef4 G A 1: 34,849,614 (GRCm39) V546M probably damaging Het
Cab39 T A 1: 85,765,020 (GRCm39) V98E probably damaging Het
Cacna1b T C 2: 24,651,856 (GRCm39) N108D probably damaging Het
Car15 C A 16: 17,654,617 (GRCm39) E134* probably null Het
Ccdc80 T G 16: 44,915,732 (GRCm39) Y163D probably damaging Het
Cdcp3 A G 7: 130,841,268 (GRCm39) M537V probably benign Het
Col22a1 C T 15: 71,740,853 (GRCm39) G513D unknown Het
Col8a1 T C 16: 57,452,805 (GRCm39) D66G probably damaging Het
Crot C A 5: 9,018,734 (GRCm39) S544I probably damaging Het
Cubn G T 2: 13,435,770 (GRCm39) P1062Q probably damaging Het
Dcc A T 18: 71,553,334 (GRCm39) V774E probably damaging Het
Dlgap5 T A 14: 47,647,818 (GRCm39) M240L probably benign Het
Dlx4 A G 11: 95,036,261 (GRCm39) V16A probably benign Het
Dnah17 G T 11: 117,958,373 (GRCm39) H2703Q probably benign Het
Duox2 A G 2: 122,122,291 (GRCm39) probably null Het
Fn1 C T 1: 71,636,844 (GRCm39) V168I probably damaging Het
Fpr-rs4 A T 17: 18,242,359 (GRCm39) D122V probably damaging Het
Gas2l2 A T 11: 83,313,923 (GRCm39) I463N probably benign Het
Ggta1 G T 2: 35,292,416 (GRCm39) P297Q probably damaging Het
Gpatch3 C A 4: 133,305,457 (GRCm39) R231S probably damaging Het
Gpc1 T C 1: 92,782,705 (GRCm39) Y151H probably damaging Het
Gpr141b A G 13: 19,913,317 (GRCm39) noncoding transcript Het
Gtf2e2 T C 8: 34,245,973 (GRCm39) W119R probably damaging Het
H2-M10.2 T C 17: 36,595,253 (GRCm39) I304V probably benign Het
Helq T C 5: 100,927,031 (GRCm39) K685R probably benign Het
Hps5 C T 7: 46,418,712 (GRCm39) probably null Het
Iars1 T C 13: 49,885,818 (GRCm39) C1186R probably damaging Het
Ift43 T C 12: 86,208,795 (GRCm39) V158A possibly damaging Het
Ift70b A G 2: 75,768,586 (GRCm39) Y56H probably damaging Het
Kat6b A G 14: 21,719,149 (GRCm39) N1276S probably benign Het
Kif19a A T 11: 114,656,340 (GRCm39) M1L possibly damaging Het
Kif1b T G 4: 149,286,969 (GRCm39) H1241P probably damaging Het
Kif26a T C 12: 112,144,510 (GRCm39) V1588A possibly damaging Het
Klb T A 5: 65,529,842 (GRCm39) probably null Het
Krtap26-1 A T 16: 88,444,131 (GRCm39) Y163* probably null Het
Lefty1 G T 1: 180,765,199 (GRCm39) E256* probably null Het
Lox T C 18: 52,662,271 (GRCm39) N44S possibly damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mctp1 A G 13: 76,949,663 (GRCm39) Y565C probably damaging Het
Megf6 C T 4: 154,349,783 (GRCm39) A961V probably benign Het
Mindy4 A G 6: 55,253,619 (GRCm39) K496R probably benign Het
Nalcn A T 14: 123,744,971 (GRCm39) H352Q probably benign Het
Ncoa5 T C 2: 164,851,310 (GRCm39) I188V possibly damaging Het
Notum G T 11: 120,545,282 (GRCm39) H426N probably benign Het
Or52r1 T A 7: 102,536,458 (GRCm39) I301F possibly damaging Het
Orm2 A T 4: 63,282,233 (GRCm39) D137V probably damaging Het
Pabpc2 G A 18: 39,908,448 (GRCm39) G571D probably damaging Het
Pabpc4 A G 4: 123,191,735 (GRCm39) N599S probably damaging Het
Pak1ip1 T C 13: 41,166,080 (GRCm39) V335A probably benign Het
Pcdhb11 A C 18: 37,556,446 (GRCm39) D592A probably damaging Het
Pmch C A 10: 87,927,120 (GRCm39) T41K possibly damaging Het
Polb G T 8: 23,130,011 (GRCm39) S187* probably null Het
Pter G T 2: 13,005,753 (GRCm39) G309* probably null Het
Ptprg T C 14: 12,219,024 (GRCm38) V406A possibly damaging Het
Ranbp3l A T 15: 9,063,184 (GRCm39) E467V possibly damaging Het
Rif1 T A 2: 51,975,153 (GRCm39) M354K probably damaging Het
Ripk4 C T 16: 97,549,312 (GRCm39) C248Y probably damaging Het
Slc6a15 T C 10: 103,253,914 (GRCm39) W617R probably damaging Het
Smyd5 C T 6: 85,417,155 (GRCm39) Q178* probably null Het
St18 T A 1: 6,873,248 (GRCm39) F328I probably damaging Het
Supt20 T A 3: 54,610,570 (GRCm39) L124* probably null Het
Tarbp1 T A 8: 127,174,223 (GRCm39) H861L probably benign Het
Tars1 A G 15: 11,390,411 (GRCm39) M356T probably benign Het
Tbc1d10a A G 11: 4,162,819 (GRCm39) T221A probably damaging Het
Tead3 A G 17: 28,553,672 (GRCm39) probably null Het
Tprg1 A G 16: 25,240,985 (GRCm39) T254A probably damaging Het
Trank1 C A 9: 111,220,545 (GRCm39) N2427K probably benign Het
Tufm T C 7: 126,089,036 (GRCm39) S380P probably damaging Het
Tyrobp C T 7: 30,114,042 (GRCm39) R68C probably damaging Het
Ubl4b T C 3: 107,462,143 (GRCm39) E39G possibly damaging Het
Uggt2 A T 14: 119,286,863 (GRCm39) F661I probably damaging Het
Upf3b A G X: 36,368,120 (GRCm39) I144T probably benign Het
Usp54 A T 14: 20,611,320 (GRCm39) D1165E probably benign Het
Vmn2r81 C T 10: 79,129,281 (GRCm39) T724I possibly damaging Het
Vsig1 A G X: 139,837,062 (GRCm39) I247M possibly damaging Het
Zfp110 C A 7: 12,583,187 (GRCm39) L612I probably benign Het
Zfp318 C A 17: 46,724,222 (GRCm39) T2075K probably damaging Het
Zfp37 A G 4: 62,110,122 (GRCm39) M1T probably null Het
Zfp605 T A 5: 110,276,720 (GRCm39) C613S probably damaging Het
Zfp729a G A 13: 67,769,792 (GRCm39) P146S possibly damaging Het
Zfp85 T C 13: 67,896,791 (GRCm39) N427S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGCCCAAACGTTCCTTAATCCTGTC -3'
(R):5'- TCTGAACTGACCTCCCAAGCTGAC -3'

Sequencing Primer
(F):5'- CTAGACCTCATAGAGCAAGCGTG -3'
(R):5'- ccacaaacacccttacccac -3'
Posted On 2013-04-24