Incidental Mutation 'R9168:Iqca1'
ID |
696152 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9168 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90065937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 218
(R218Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148643
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
AlphaFold |
Q9CUL5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113094
AA Change: R218Q
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108717 Gene: ENSMUSG00000026301 AA Change: R218Q
Domain | Start | End | E-Value | Type |
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 |
probably damaging
Transcript: ENSMUST00000212394
AA Change: R218Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
Validation Efficiency |
97% (67/69) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alppl2 |
T |
C |
1: 87,015,050 (GRCm39) |
Y437C |
probably damaging |
Het |
Arhgef11 |
T |
G |
3: 87,633,790 (GRCm39) |
L808R |
probably damaging |
Het |
Armc7 |
G |
A |
11: 115,366,724 (GRCm39) |
|
probably benign |
Het |
Ascl1 |
T |
C |
10: 87,328,361 (GRCm39) |
N197S |
probably benign |
Het |
Cdc42bpb |
T |
G |
12: 111,286,517 (GRCm39) |
E630D |
possibly damaging |
Het |
Cep128 |
T |
C |
12: 91,233,794 (GRCm39) |
I425V |
probably damaging |
Het |
Ces4a |
T |
A |
8: 105,876,050 (GRCm39) |
D530E |
probably benign |
Het |
Ch25h |
T |
C |
19: 34,451,905 (GRCm39) |
I208V |
probably benign |
Het |
Cnpy3 |
A |
C |
17: 47,063,019 (GRCm39) |
C11G |
unknown |
Het |
Col12a1 |
A |
C |
9: 79,548,783 (GRCm39) |
Y2187* |
probably null |
Het |
Cyp2c40 |
C |
T |
19: 39,755,819 (GRCm39) |
M498I |
probably benign |
Het |
D630039A03Rik |
T |
A |
4: 57,910,113 (GRCm39) |
Y233F |
probably damaging |
Het |
Dffa |
A |
T |
4: 149,192,226 (GRCm39) |
D100V |
probably damaging |
Het |
Dock7 |
A |
T |
4: 98,953,643 (GRCm39) |
M363K |
|
Het |
Dscam |
A |
G |
16: 96,420,768 (GRCm39) |
V1706A |
possibly damaging |
Het |
En1 |
A |
G |
1: 120,530,892 (GRCm39) |
D44G |
unknown |
Het |
Enpp4 |
T |
A |
17: 44,413,141 (GRCm39) |
N131I |
probably damaging |
Het |
Ezh1 |
T |
C |
11: 101,086,433 (GRCm39) |
D587G |
probably damaging |
Het |
Gm21149 |
G |
T |
5: 15,677,132 (GRCm39) |
H241N |
possibly damaging |
Het |
Gna15 |
T |
C |
10: 81,350,192 (GRCm39) |
Y70C |
probably damaging |
Het |
Gucy1a1 |
T |
G |
3: 82,009,353 (GRCm39) |
M552L |
probably damaging |
Het |
Herc2 |
G |
A |
7: 55,802,208 (GRCm39) |
V2017M |
probably damaging |
Het |
Hsf4 |
C |
T |
8: 105,999,373 (GRCm39) |
A297V |
probably benign |
Het |
Ighd |
T |
A |
12: 113,379,203 (GRCm39) |
T122S |
|
Het |
Isl2 |
C |
A |
9: 55,452,227 (GRCm39) |
S266R |
probably benign |
Het |
Itpkb |
A |
C |
1: 180,160,028 (GRCm39) |
R51S |
probably benign |
Het |
Jup |
A |
T |
11: 100,274,219 (GRCm39) |
|
probably null |
Het |
Kbtbd6 |
T |
C |
14: 79,690,553 (GRCm39) |
V416A |
possibly damaging |
Het |
Klhl22 |
T |
A |
16: 17,602,068 (GRCm39) |
Y372N |
probably damaging |
Het |
Klrc3 |
T |
C |
6: 129,616,142 (GRCm39) |
E191G |
probably damaging |
Het |
Lhx5 |
A |
G |
5: 120,570,410 (GRCm39) |
D22G |
probably benign |
Het |
Marchf9 |
GGGCGGCGGCGGCGGCG |
GGGCGGCGGCGGCG |
10: 126,895,360 (GRCm39) |
|
probably benign |
Het |
Mbtps1 |
A |
G |
8: 120,248,602 (GRCm39) |
I707T |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,331,047 (GRCm39) |
Y2219N |
probably damaging |
Het |
Neb |
A |
G |
2: 52,085,696 (GRCm39) |
I5513T |
probably damaging |
Het |
Nkx1-1 |
C |
T |
5: 33,591,131 (GRCm39) |
V64M |
unknown |
Het |
Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
Or2g25 |
T |
C |
17: 37,971,047 (GRCm39) |
Y59C |
probably damaging |
Het |
Or52e18 |
A |
G |
7: 104,609,001 (GRCm39) |
*313R |
probably null |
Het |
Or7e173 |
T |
C |
9: 19,938,818 (GRCm39) |
M139V |
probably benign |
Het |
Osbpl3 |
A |
T |
6: 50,329,762 (GRCm39) |
|
probably null |
Het |
Phc3 |
T |
A |
3: 30,961,544 (GRCm39) |
M963L |
probably benign |
Het |
Phf20 |
C |
T |
2: 156,109,234 (GRCm39) |
P194S |
probably benign |
Het |
Pou1f1 |
C |
T |
16: 65,317,427 (GRCm39) |
|
probably benign |
Het |
Pramel46 |
T |
A |
5: 95,418,133 (GRCm39) |
M288L |
probably benign |
Het |
Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
Prelid1 |
A |
G |
13: 55,470,010 (GRCm39) |
K3R |
possibly damaging |
Het |
Psd |
C |
A |
19: 46,309,233 (GRCm39) |
D575Y |
probably damaging |
Het |
Ptger3 |
C |
A |
3: 157,273,424 (GRCm39) |
T257K |
probably damaging |
Het |
Pth1r |
T |
C |
9: 110,556,204 (GRCm39) |
H223R |
probably benign |
Het |
Ptk2b |
C |
T |
14: 66,424,899 (GRCm39) |
E182K |
probably damaging |
Het |
Ptprj |
T |
C |
2: 90,294,916 (GRCm39) |
T431A |
possibly damaging |
Het |
Rbbp5 |
T |
A |
1: 132,417,464 (GRCm39) |
D119E |
probably benign |
Het |
Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
Rinl |
T |
G |
7: 28,490,084 (GRCm39) |
L41R |
possibly damaging |
Het |
Rrp12 |
A |
G |
19: 41,865,603 (GRCm39) |
V730A |
probably benign |
Het |
Saraf |
G |
T |
8: 34,632,343 (GRCm39) |
V141L |
possibly damaging |
Het |
Slc6a13 |
T |
C |
6: 121,302,042 (GRCm39) |
L208P |
probably damaging |
Het |
Slc9a9 |
C |
A |
9: 94,595,000 (GRCm39) |
T170K |
probably damaging |
Het |
Spata31f1e |
T |
C |
4: 42,793,380 (GRCm39) |
T251A |
probably benign |
Het |
Stk33 |
T |
C |
7: 108,928,747 (GRCm39) |
N255S |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,930,722 (GRCm39) |
V1769M |
probably damaging |
Het |
Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
Tmem116 |
T |
C |
5: 121,605,975 (GRCm39) |
V109A |
|
Het |
Tnfaip2 |
T |
A |
12: 111,411,382 (GRCm39) |
L2Q |
probably damaging |
Het |
Trub1 |
T |
C |
19: 57,452,859 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,679,260 (GRCm39) |
V10821I |
unknown |
Het |
Ube2j1 |
C |
A |
4: 33,045,111 (GRCm39) |
A197D |
probably benign |
Het |
Vmn2r101 |
T |
A |
17: 19,809,138 (GRCm39) |
I89N |
probably damaging |
Het |
Wfikkn1 |
T |
C |
17: 26,097,145 (GRCm39) |
Y393C |
probably damaging |
Het |
Zfp729b |
C |
A |
13: 67,741,942 (GRCm39) |
E108* |
probably null |
Het |
Zfp976 |
A |
T |
7: 42,263,011 (GRCm39) |
C276* |
probably null |
Het |
|
Other mutations in Iqca1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- TCAGTCAGATACTTCCAGTCTCT -3'
(R):5'- TGTCCTTCTTTAAAGCTGTTGAGTA -3'
Sequencing Primer
(F):5'- TCCAGTCTCTTAAGATACCTATTCAG -3'
(R):5'- GAGCCTGTCTCATTAGAAGCCATG -3'
|
Posted On |
2022-02-07 |