Incidental Mutation 'IGL03372:Iqca1'
| ID |
420340 |
| 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 # |
IGL03372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90072691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 63
(I63T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
| AlphaFold |
Q9CUL5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113094
AA Change: I63T
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: I63T
| 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 |
noncoding transcript
Transcript: ENSMUST00000186522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211999
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212394
AA Change: I63T
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
T |
4: 129,911,362 (GRCm39) |
A1161V |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,028,350 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
A |
T |
2: 153,242,333 (GRCm39) |
N961I |
probably damaging |
Het |
| Bcl2l10 |
A |
G |
9: 75,255,329 (GRCm39) |
I49V |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,962,578 (GRCm39) |
|
probably benign |
Het |
| Ccl20 |
A |
G |
1: 83,095,597 (GRCm39) |
M54V |
probably benign |
Het |
| Cep72 |
A |
C |
13: 74,191,637 (GRCm39) |
L200V |
possibly damaging |
Het |
| Clic4 |
T |
C |
4: 134,945,925 (GRCm39) |
D164G |
probably damaging |
Het |
| Col5a3 |
G |
A |
9: 20,686,624 (GRCm39) |
P1334S |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,459,030 (GRCm39) |
L293P |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,479,109 (GRCm39) |
S140T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,052,833 (GRCm39) |
M2897K |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,952,666 (GRCm39) |
E721G |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,218,109 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
G |
T |
3: 38,943,283 (GRCm39) |
K725N |
possibly damaging |
Het |
| Fezf1 |
T |
C |
6: 23,246,909 (GRCm39) |
I308V |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gapdhs |
T |
C |
7: 30,432,674 (GRCm39) |
|
probably benign |
Het |
| Gm10109 |
A |
T |
7: 43,871,126 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,245,519 (GRCm39) |
V405I |
probably damaging |
Het |
| Gtf2e1 |
T |
C |
16: 37,356,077 (GRCm39) |
|
probably benign |
Het |
| Kcmf1 |
A |
C |
6: 72,826,546 (GRCm39) |
L161R |
probably damaging |
Het |
| Kif19a |
G |
T |
11: 114,670,044 (GRCm39) |
V80L |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,840,579 (GRCm39) |
M1179K |
probably benign |
Het |
| Krtap19-2 |
A |
G |
16: 88,670,774 (GRCm39) |
|
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,840,783 (GRCm39) |
I575N |
possibly damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,813,077 (GRCm39) |
|
probably benign |
Het |
| Larp1b |
A |
T |
3: 40,978,962 (GRCm39) |
H6L |
possibly damaging |
Het |
| Map4k2 |
T |
A |
19: 6,392,279 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
C |
1: 63,759,154 (GRCm39) |
H146R |
possibly damaging |
Het |
| Morc2a |
T |
C |
11: 3,631,813 (GRCm39) |
|
probably benign |
Het |
| Mvd |
A |
G |
8: 123,170,113 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,131,654 (GRCm39) |
S514N |
probably damaging |
Het |
| Nav1 |
A |
T |
1: 135,378,641 (GRCm39) |
I1610K |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,584,473 (GRCm39) |
L2095P |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,963,588 (GRCm39) |
N115S |
probably damaging |
Het |
| Or5p52 |
T |
C |
7: 107,502,577 (GRCm39) |
Y218H |
probably damaging |
Het |
| Otud6b |
A |
C |
4: 14,812,519 (GRCm39) |
I276R |
possibly damaging |
Het |
| P2rx6 |
G |
A |
16: 17,385,356 (GRCm39) |
E150K |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,150,996 (GRCm39) |
L771Q |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,806,976 (GRCm39) |
N1087K |
probably benign |
Het |
| Pcdhb5 |
G |
T |
18: 37,453,713 (GRCm39) |
R31L |
probably benign |
Het |
| Proser3 |
A |
C |
7: 30,242,993 (GRCm39) |
S195A |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,586,121 (GRCm39) |
K292E |
probably benign |
Het |
| Rbm27 |
G |
A |
18: 42,438,781 (GRCm39) |
R394H |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,375,314 (GRCm39) |
I649T |
probably damaging |
Het |
| Skint3 |
G |
A |
4: 112,113,103 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,304,285 (GRCm39) |
L576Q |
probably damaging |
Het |
| Snx2 |
A |
G |
18: 53,349,463 (GRCm39) |
D408G |
probably damaging |
Het |
| Taar2 |
T |
C |
10: 23,817,069 (GRCm39) |
V203A |
probably benign |
Het |
| Tdrd6 |
C |
T |
17: 43,936,459 (GRCm39) |
V1530M |
probably damaging |
Het |
| Tsc2 |
A |
C |
17: 24,838,444 (GRCm39) |
L515R |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 72,108,353 (GRCm39) |
M500K |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,496 (GRCm39) |
D76G |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,336,855 (GRCm39) |
D127G |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation