Incidental Mutation 'IGL01367:Iqca1'
| ID |
76002 |
| 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)
|
| Stock # |
IGL01367
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 89998350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
| AlphaFold |
Q9CUL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113094
|
| SMART Domains |
Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
| 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 benign
Transcript: ENSMUST00000189011
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189690
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212394
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
A |
G |
11: 30,404,843 (GRCm39) |
V20A |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,207,781 (GRCm39) |
I985V |
probably damaging |
Het |
| Anapc2 |
A |
C |
2: 25,164,794 (GRCm39) |
R59S |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,711,696 (GRCm39) |
D165E |
probably benign |
Het |
| Asb8 |
A |
T |
15: 98,034,054 (GRCm39) |
V167D |
probably damaging |
Het |
| Atp5pf |
A |
G |
16: 84,625,360 (GRCm39) |
M81T |
probably benign |
Het |
| Bcl7b |
A |
G |
5: 135,208,950 (GRCm39) |
T138A |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,146,566 (GRCm39) |
L2869P |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,706,186 (GRCm39) |
S1174P |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,699 (GRCm39) |
I36T |
unknown |
Het |
| Denr |
A |
G |
5: 124,046,182 (GRCm39) |
D4G |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,155,096 (GRCm39) |
|
probably benign |
Het |
| Egf |
C |
T |
3: 129,496,104 (GRCm39) |
|
probably null |
Het |
| Galnt10 |
A |
C |
11: 57,616,409 (GRCm39) |
Y108S |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
| Grb10 |
G |
T |
11: 11,895,599 (GRCm39) |
Q242K |
probably damaging |
Het |
| Hspg2 |
A |
T |
4: 137,265,800 (GRCm39) |
Y1837F |
probably damaging |
Het |
| Ikzf1 |
G |
T |
11: 11,698,358 (GRCm39) |
A70S |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,458,426 (GRCm39) |
Y526H |
probably damaging |
Het |
| Il34 |
A |
T |
8: 111,469,375 (GRCm39) |
I186N |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,896,546 (GRCm39) |
Y136C |
probably damaging |
Het |
| Man2b2 |
A |
T |
5: 36,971,681 (GRCm39) |
Y257* |
probably null |
Het |
| Map3k19 |
A |
G |
1: 127,752,088 (GRCm39) |
F421S |
possibly damaging |
Het |
| Melk |
A |
G |
4: 44,332,907 (GRCm39) |
T288A |
possibly damaging |
Het |
| Mpp2 |
T |
C |
11: 101,954,135 (GRCm39) |
E187G |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,252,323 (GRCm39) |
T394A |
probably benign |
Het |
| Neil2 |
A |
G |
14: 63,429,177 (GRCm39) |
S39P |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,624 (GRCm39) |
I266F |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,566 (GRCm39) |
E1214G |
possibly damaging |
Het |
| Pcdhb17 |
G |
T |
18: 37,620,548 (GRCm39) |
Q779H |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,033,726 (GRCm39) |
I1577V |
probably benign |
Het |
| Pkp3 |
C |
T |
7: 140,663,989 (GRCm39) |
P389S |
probably damaging |
Het |
| Ppp4r2 |
T |
A |
6: 100,841,706 (GRCm39) |
Y92* |
probably null |
Het |
| Rnf13 |
T |
C |
3: 57,714,508 (GRCm39) |
I189T |
probably benign |
Het |
| Serpinf2 |
T |
C |
11: 75,328,871 (GRCm39) |
D53G |
probably benign |
Het |
| Slc47a2 |
T |
A |
11: 61,220,607 (GRCm39) |
T184S |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,210,936 (GRCm39) |
I1008T |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,784,814 (GRCm39) |
E1079V |
probably damaging |
Het |
| Trappc8 |
G |
A |
18: 20,999,176 (GRCm39) |
S318L |
probably benign |
Het |
| Trappc9 |
A |
G |
15: 72,462,002 (GRCm39) |
S909P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,560,483 (GRCm39) |
T29306I |
probably damaging |
Het |
| Twnk |
G |
A |
19: 45,000,090 (GRCm39) |
R602Q |
possibly damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,075 (GRCm39) |
I261K |
probably damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,461,124 (GRCm39) |
A817T |
probably damaging |
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 |
|
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 |
2013-10-07 |
Incidental Mutation