Incidental Mutation 'R5838:Iqca1'
| ID |
449690 |
| 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 |
044058-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5838 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90072667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 71
(L71P)
|
| 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: L71P
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: L71P
| 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 |
probably benign
Transcript: ENSMUST00000212394
AA Change: L71P
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
G |
A |
11: 105,863,706 (GRCm39) |
V385I |
probably benign |
Het |
| Apmap |
T |
C |
2: 150,427,777 (GRCm39) |
Y315C |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,916,904 (GRCm39) |
T414I |
probably damaging |
Het |
| Cd200r1 |
C |
A |
16: 44,586,397 (GRCm39) |
A9D |
possibly damaging |
Het |
| Cdkal1 |
T |
C |
13: 29,875,669 (GRCm39) |
D183G |
probably benign |
Het |
| Clk1 |
C |
A |
1: 58,451,819 (GRCm39) |
C432F |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,143,765 (GRCm39) |
L484F |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,807,211 (GRCm39) |
E2480G |
unknown |
Het |
| Dnah5 |
A |
G |
15: 28,290,341 (GRCm39) |
I1244V |
probably benign |
Het |
| Dock3 |
G |
T |
9: 106,772,687 (GRCm39) |
P522Q |
possibly damaging |
Het |
| Drc1 |
T |
A |
5: 30,523,857 (GRCm39) |
|
probably null |
Het |
| Epas1 |
C |
T |
17: 87,131,114 (GRCm39) |
T298I |
possibly damaging |
Het |
| Epha1 |
A |
T |
6: 42,338,580 (GRCm39) |
I699N |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,040,437 (GRCm39) |
S558P |
probably damaging |
Het |
| Epn1 |
T |
A |
7: 5,100,165 (GRCm39) |
L426* |
probably null |
Het |
| Fam234b |
T |
C |
6: 135,202,265 (GRCm39) |
V329A |
probably benign |
Het |
| Fasn |
G |
T |
11: 120,706,950 (GRCm39) |
R901S |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,248,830 (GRCm39) |
M1165T |
possibly damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,893,913 (GRCm39) |
R103G |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,966,568 (GRCm39) |
D114E |
probably benign |
Het |
| Galnt10 |
A |
G |
11: 57,671,882 (GRCm39) |
K391E |
probably damaging |
Het |
| Gpr150 |
C |
A |
13: 76,204,045 (GRCm39) |
C300F |
probably benign |
Het |
| Hhipl2 |
A |
G |
1: 183,204,479 (GRCm39) |
T151A |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,347,819 (GRCm39) |
L4822M |
probably damaging |
Het |
| Ifi207 |
T |
A |
1: 173,559,953 (GRCm39) |
Q173L |
unknown |
Het |
| Inca1 |
T |
C |
11: 70,580,707 (GRCm39) |
E86G |
probably damaging |
Het |
| Kank2 |
G |
T |
9: 21,706,689 (GRCm39) |
Q110K |
probably damaging |
Het |
| Katnip |
A |
T |
7: 125,466,827 (GRCm39) |
M1361L |
possibly damaging |
Het |
| Kif13b |
A |
T |
14: 64,975,004 (GRCm39) |
M407L |
probably damaging |
Het |
| Kif5a |
A |
C |
10: 127,081,310 (GRCm39) |
I208S |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,489,469 (GRCm39) |
K4490R |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,835,875 (GRCm39) |
R1352H |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,345,947 (GRCm39) |
Q2061R |
possibly damaging |
Het |
| Marcks |
A |
G |
10: 37,012,163 (GRCm39) |
S291P |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,039,231 (GRCm39) |
V254A |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,754,547 (GRCm39) |
R4683W |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,846,397 (GRCm39) |
|
probably null |
Het |
| Ndrg4 |
A |
T |
8: 96,433,421 (GRCm39) |
H134L |
probably damaging |
Het |
| Nek7 |
C |
A |
1: 138,462,101 (GRCm39) |
|
probably null |
Het |
| Nlrc3 |
C |
T |
16: 3,771,859 (GRCm39) |
S151N |
probably damaging |
Het |
| Nsl1 |
C |
A |
1: 190,802,310 (GRCm39) |
A146E |
probably benign |
Het |
| Or10a3n |
A |
T |
7: 108,493,292 (GRCm39) |
F107L |
probably benign |
Het |
| Or2y1e |
A |
C |
11: 49,218,760 (GRCm39) |
N174T |
probably damaging |
Het |
| Or52ac1 |
A |
G |
7: 104,246,104 (GRCm39) |
Y95H |
probably benign |
Het |
| Or5b120 |
T |
A |
19: 13,479,922 (GRCm39) |
Y72N |
probably damaging |
Het |
| Or6c210 |
A |
T |
10: 129,495,907 (GRCm39) |
R77S |
probably benign |
Het |
| Pde4d |
A |
C |
13: 109,876,976 (GRCm39) |
S41R |
probably damaging |
Het |
| Phlpp1 |
T |
A |
1: 106,274,862 (GRCm39) |
L875* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,799,186 (GRCm39) |
S2802T |
possibly damaging |
Het |
| Polr3b |
A |
G |
10: 84,510,454 (GRCm39) |
T500A |
probably benign |
Het |
| Ppp2r2c |
T |
C |
5: 37,097,531 (GRCm39) |
V239A |
probably benign |
Het |
| Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
| Reln |
T |
A |
5: 22,104,111 (GRCm39) |
I3287F |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,407,651 (GRCm39) |
D763G |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,096,396 (GRCm39) |
V534A |
probably benign |
Het |
| Slc10a4 |
T |
A |
5: 73,169,373 (GRCm39) |
C333S |
probably benign |
Het |
| Slc15a1 |
G |
A |
14: 121,722,283 (GRCm39) |
A206V |
probably damaging |
Het |
| Snx14 |
A |
G |
9: 88,273,829 (GRCm39) |
L654P |
probably damaging |
Het |
| Sowahc |
G |
A |
10: 59,059,012 (GRCm39) |
A383T |
possibly damaging |
Het |
| Taf1b |
A |
G |
12: 24,550,448 (GRCm39) |
D11G |
possibly damaging |
Het |
| Tap1 |
C |
T |
17: 34,412,279 (GRCm39) |
Q164* |
probably null |
Het |
| Tbcel |
T |
A |
9: 42,327,168 (GRCm39) |
R430W |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,965,594 (GRCm39) |
|
probably null |
Het |
| Trim15 |
T |
C |
17: 37,173,732 (GRCm39) |
I259V |
probably damaging |
Het |
| Trpt1 |
T |
C |
19: 6,975,668 (GRCm39) |
S141P |
probably damaging |
Het |
| Tsc2 |
T |
A |
17: 24,832,190 (GRCm39) |
Q732L |
probably benign |
Het |
| Tstd3 |
C |
A |
4: 21,759,622 (GRCm39) |
|
probably null |
Het |
| Unc13d |
T |
C |
11: 115,955,451 (GRCm39) |
K914R |
possibly damaging |
Het |
| Unk |
A |
G |
11: 115,940,157 (GRCm39) |
E170G |
probably damaging |
Het |
| Uqcc2 |
T |
A |
17: 27,344,860 (GRCm39) |
K62* |
probably null |
Het |
| Vim |
A |
G |
2: 13,585,001 (GRCm39) |
D394G |
probably damaging |
Het |
| Wdr47 |
G |
A |
3: 108,532,052 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCATCACATTTAAGCCTGGC -3'
(R):5'- CCAAGAAGCCCTCAATTCTCTG -3'
Sequencing Primer
(F):5'- CATTTAAGCCTGGCGAAGAAGTCTG -3'
(R):5'- CCTCAATTCTCTGCTTGACAAAGAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation