Incidental Mutation 'IGL00966:Iqca1'
ID |
26734 |
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 # |
IGL00966
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89973379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 770
(I770F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
AlphaFold |
Q9CUL5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113094
AA Change: I770F
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108717 Gene: ENSMUSG00000026301 AA Change: I770F
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: ENSMUST00000189690
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212394
AA Change: I798F
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212859
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
A |
G |
9: 104,003,855 (GRCm39) |
E649G |
probably damaging |
Het |
Adgre1 |
C |
A |
17: 57,726,335 (GRCm39) |
T402K |
probably benign |
Het |
Agap3 |
A |
G |
5: 24,706,000 (GRCm39) |
|
probably benign |
Het |
Amy1 |
T |
C |
3: 113,349,689 (GRCm39) |
I494V |
probably benign |
Het |
Arhgef40 |
G |
A |
14: 52,229,155 (GRCm39) |
|
probably null |
Het |
Atp2c2 |
T |
C |
8: 120,472,329 (GRCm39) |
V461A |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,652,583 (GRCm39) |
S595P |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,844,836 (GRCm39) |
Y692* |
probably null |
Het |
Cmya5 |
C |
T |
13: 93,234,414 (GRCm39) |
V225I |
probably benign |
Het |
Cnbd1 |
T |
C |
4: 18,906,988 (GRCm39) |
|
probably benign |
Het |
Cux1 |
A |
T |
5: 136,340,345 (GRCm39) |
|
probably benign |
Het |
Dsg3 |
T |
A |
18: 20,656,664 (GRCm39) |
I178N |
probably benign |
Het |
Dus2 |
T |
A |
8: 106,752,533 (GRCm39) |
|
probably null |
Het |
Enpp1 |
G |
A |
10: 24,529,929 (GRCm39) |
H570Y |
probably damaging |
Het |
Ephb3 |
A |
C |
16: 21,036,044 (GRCm39) |
T57P |
probably benign |
Het |
Fat3 |
C |
A |
9: 15,910,390 (GRCm39) |
V1871F |
possibly damaging |
Het |
Fbll1 |
T |
C |
11: 35,688,874 (GRCm39) |
T130A |
probably benign |
Het |
Fbxl20 |
C |
T |
11: 98,001,800 (GRCm39) |
S99N |
probably damaging |
Het |
Folr2 |
T |
C |
7: 101,489,593 (GRCm39) |
E182G |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,703,080 (GRCm39) |
D281G |
probably benign |
Het |
Gm17175 |
G |
T |
14: 51,810,526 (GRCm39) |
Q34K |
possibly damaging |
Het |
Gm5592 |
T |
A |
7: 40,938,519 (GRCm39) |
D600E |
probably damaging |
Het |
Gtf2e1 |
T |
C |
16: 37,336,092 (GRCm39) |
E294G |
probably benign |
Het |
Gtf3c2 |
A |
G |
5: 31,327,517 (GRCm39) |
|
probably benign |
Het |
Heg1 |
T |
C |
16: 33,530,977 (GRCm39) |
L151P |
probably damaging |
Het |
Hmcn2 |
T |
G |
2: 31,319,006 (GRCm39) |
V3902G |
probably damaging |
Het |
Ift140 |
A |
G |
17: 25,237,776 (GRCm39) |
Y4C |
probably damaging |
Het |
Ighv1-19 |
A |
C |
12: 114,672,569 (GRCm39) |
V17G |
possibly damaging |
Het |
Jak3 |
T |
A |
8: 72,131,656 (GRCm39) |
C115S |
probably benign |
Het |
Kif18b |
A |
T |
11: 102,805,501 (GRCm39) |
M252K |
probably damaging |
Het |
Klhdc7a |
A |
T |
4: 139,694,236 (GRCm39) |
V237D |
probably benign |
Het |
Klhl11 |
C |
T |
11: 100,354,031 (GRCm39) |
V597I |
possibly damaging |
Het |
Krt72 |
T |
A |
15: 101,689,396 (GRCm39) |
Y312F |
probably damaging |
Het |
Lonp2 |
T |
A |
8: 87,360,600 (GRCm39) |
I191N |
probably damaging |
Het |
Npc2 |
A |
T |
12: 84,819,619 (GRCm39) |
I8N |
possibly damaging |
Het |
Nr4a1 |
T |
C |
15: 101,170,669 (GRCm39) |
L413P |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,638,645 (GRCm39) |
N895S |
probably damaging |
Het |
Or7e175 |
T |
C |
9: 20,048,531 (GRCm39) |
F40L |
probably benign |
Het |
Ppef1 |
A |
G |
X: 159,468,290 (GRCm39) |
I94T |
probably benign |
Het |
Prrt4 |
G |
A |
6: 29,176,455 (GRCm39) |
T290I |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,499,927 (GRCm39) |
V1239E |
probably damaging |
Het |
Rab8b |
T |
G |
9: 66,760,274 (GRCm39) |
M117L |
probably benign |
Het |
S1pr5 |
T |
A |
9: 21,155,512 (GRCm39) |
I305F |
possibly damaging |
Het |
Sdr39u1 |
A |
G |
14: 56,135,463 (GRCm39) |
V160A |
probably damaging |
Het |
Slc6a21 |
C |
T |
7: 44,937,668 (GRCm39) |
T653M |
probably benign |
Het |
Stk39 |
T |
A |
2: 68,042,302 (GRCm39) |
E544D |
probably benign |
Het |
Tgfbr3 |
T |
C |
5: 107,290,367 (GRCm39) |
T313A |
probably benign |
Het |
Tle6 |
A |
T |
10: 81,430,292 (GRCm39) |
L287M |
probably damaging |
Het |
Tmc2 |
A |
G |
2: 130,105,932 (GRCm39) |
H821R |
probably benign |
Het |
Tmem230 |
G |
T |
2: 132,087,897 (GRCm39) |
D26E |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,880,885 (GRCm39) |
F394S |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,641,721 (GRCm39) |
L13458F |
probably damaging |
Het |
Vwa5a |
A |
T |
9: 38,634,675 (GRCm39) |
N161I |
probably benign |
Het |
Wdr87-ps |
C |
A |
7: 29,236,888 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Iqca1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-04-17 |