Incidental Mutation 'IGL01545:Iqca1'
ID |
90282 |
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 # |
IGL01545
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89973364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 803
(M803L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148643
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
AlphaFold |
Q9CUL5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113094
AA Change: M775L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108717 Gene: ENSMUSG00000026301 AA Change: M775L
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: M803L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
G |
A |
11: 30,376,228 (GRCm39) |
S213L |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,614,303 (GRCm39) |
I4030T |
possibly damaging |
Het |
Ap4b1 |
G |
A |
3: 103,720,143 (GRCm39) |
R55H |
probably benign |
Het |
Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
Atp6v1h |
T |
A |
1: 5,159,282 (GRCm39) |
M55K |
probably benign |
Het |
B3galt4 |
A |
C |
17: 34,170,187 (GRCm39) |
V17G |
probably benign |
Het |
Cd79a |
A |
T |
7: 24,600,691 (GRCm39) |
M172L |
probably benign |
Het |
Cry1 |
A |
T |
10: 85,020,226 (GRCm39) |
L37H |
possibly damaging |
Het |
D5Ertd615e |
A |
T |
5: 45,326,755 (GRCm39) |
|
noncoding transcript |
Het |
Dnah17 |
A |
T |
11: 118,010,394 (GRCm39) |
L308Q |
probably damaging |
Het |
Dnah7a |
C |
T |
1: 53,557,941 (GRCm39) |
A2158T |
probably benign |
Het |
Dusp2 |
A |
G |
2: 127,179,695 (GRCm39) |
T313A |
probably benign |
Het |
Fam110c |
T |
C |
12: 31,124,982 (GRCm39) |
S315P |
probably damaging |
Het |
Fcer2a |
G |
A |
8: 3,733,598 (GRCm39) |
R198* |
probably null |
Het |
Fryl |
G |
A |
5: 73,211,940 (GRCm39) |
T2359M |
probably damaging |
Het |
Gm14221 |
G |
A |
2: 160,410,303 (GRCm39) |
|
noncoding transcript |
Het |
Gpc6 |
T |
G |
14: 118,202,242 (GRCm39) |
L484R |
probably damaging |
Het |
Igdcc3 |
G |
A |
9: 65,087,355 (GRCm39) |
V298M |
probably damaging |
Het |
Impg2 |
T |
A |
16: 56,046,080 (GRCm39) |
|
probably benign |
Het |
Itga4 |
T |
C |
2: 79,146,314 (GRCm39) |
|
probably benign |
Het |
Katnip |
A |
G |
7: 125,352,143 (GRCm39) |
|
probably null |
Het |
Kidins220 |
T |
C |
12: 25,090,459 (GRCm39) |
F1141S |
possibly damaging |
Het |
Kif7 |
A |
G |
7: 79,352,026 (GRCm39) |
I912T |
probably damaging |
Het |
Klhl38 |
G |
A |
15: 58,185,854 (GRCm39) |
R292W |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,053,389 (GRCm39) |
|
probably benign |
Het |
Mbd4 |
A |
T |
6: 115,827,758 (GRCm39) |
D39E |
probably damaging |
Het |
Mrm2 |
A |
G |
5: 140,317,010 (GRCm39) |
V8A |
probably benign |
Het |
Myod1 |
A |
T |
7: 46,026,539 (GRCm39) |
E148V |
probably damaging |
Het |
Or5d47 |
A |
C |
2: 87,804,895 (GRCm39) |
I38S |
probably benign |
Het |
Pdcd10 |
A |
T |
3: 75,448,475 (GRCm39) |
F30I |
possibly damaging |
Het |
Ptcd1 |
T |
A |
5: 145,096,346 (GRCm39) |
H249L |
probably damaging |
Het |
Ptcd3 |
A |
T |
6: 71,865,561 (GRCm39) |
D451E |
probably benign |
Het |
Rab44 |
C |
A |
17: 29,366,351 (GRCm39) |
S680R |
unknown |
Het |
Rad21l |
A |
T |
2: 151,497,084 (GRCm39) |
D340E |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,314,703 (GRCm39) |
F1808L |
possibly damaging |
Het |
Rnf122 |
T |
C |
8: 31,618,630 (GRCm39) |
V126A |
probably damaging |
Het |
Slc25a47 |
G |
T |
12: 108,820,142 (GRCm39) |
V49L |
probably benign |
Het |
Slc36a2 |
T |
C |
11: 55,075,633 (GRCm39) |
|
probably null |
Het |
Sorl1 |
G |
A |
9: 41,955,252 (GRCm39) |
R668W |
probably damaging |
Het |
Tbx19 |
T |
A |
1: 164,966,725 (GRCm39) |
N383I |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,510 (GRCm39) |
H1676R |
probably benign |
Het |
Tgm5 |
G |
T |
2: 120,883,289 (GRCm39) |
R351S |
probably damaging |
Het |
Tmem106b |
A |
G |
6: 13,071,842 (GRCm39) |
S34G |
probably benign |
Het |
Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,170,140 (GRCm39) |
|
probably benign |
Het |
Wfdc11 |
A |
G |
2: 164,507,365 (GRCm39) |
|
probably null |
Het |
Xrn2 |
T |
A |
2: 146,880,099 (GRCm39) |
I474K |
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,797,063 (GRCm39) |
K383R |
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 |
|
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 |
2013-12-03 |