Incidental Mutation 'R0963:Iqca1'
| ID |
81340 |
| 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 |
039092-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0963 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 90070453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 133
(G133V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000113094]
[ENSMUST00000212394]
[ENSMUST00000212394]
|
| AlphaFold |
Q9CUL5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000113094
AA Change: G133V
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: G133V
| 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 null
Transcript: ENSMUST00000113094
AA Change: G133V
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: G133V
| 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 null
Transcript: ENSMUST00000212394
AA Change: G133V
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212394
AA Change: G133V
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.1927 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
G |
13: 8,722,451 (GRCm39) |
D369G |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,038,893 (GRCm39) |
V303A |
probably damaging |
Het |
| Afap1l1 |
A |
T |
18: 61,870,001 (GRCm39) |
Y610N |
probably damaging |
Het |
| Agr3 |
T |
A |
12: 35,984,433 (GRCm39) |
H53Q |
probably benign |
Het |
| Akr1d1 |
A |
G |
6: 37,507,209 (GRCm39) |
I10M |
probably damaging |
Het |
| Atp4b |
G |
T |
8: 13,440,014 (GRCm39) |
H111N |
probably benign |
Het |
| Bbs7 |
G |
T |
3: 36,667,412 (GRCm39) |
A8E |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,989,006 (GRCm39) |
V2249M |
possibly damaging |
Het |
| Cpt1a |
T |
C |
19: 3,431,634 (GRCm39) |
S685P |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,582,956 (GRCm39) |
H163Q |
probably benign |
Het |
| Duox2 |
A |
C |
2: 122,117,653 (GRCm39) |
C894G |
probably benign |
Het |
| Ecm1 |
T |
C |
3: 95,643,900 (GRCm39) |
T209A |
possibly damaging |
Het |
| Glo1 |
T |
C |
17: 30,819,085 (GRCm39) |
N79S |
probably benign |
Het |
| Htra1 |
T |
A |
7: 130,584,009 (GRCm39) |
M388K |
possibly damaging |
Het |
| Jag2 |
C |
T |
12: 112,878,934 (GRCm39) |
E496K |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Khdc1c |
A |
G |
1: 21,439,833 (GRCm39) |
N128S |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,119,132 (GRCm39) |
N829S |
probably benign |
Het |
| Leprotl1 |
T |
C |
8: 34,606,189 (GRCm39) |
Y33C |
probably damaging |
Het |
| Lypd11 |
A |
T |
7: 24,423,047 (GRCm39) |
D90E |
probably benign |
Het |
| Map3k3 |
T |
A |
11: 106,014,618 (GRCm39) |
S130T |
probably benign |
Het |
| Mip |
C |
T |
10: 128,061,854 (GRCm39) |
A35V |
probably benign |
Het |
| Ms4a19 |
T |
C |
19: 11,118,921 (GRCm39) |
T63A |
possibly damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,512 (GRCm39) |
R861G |
probably damaging |
Het |
| Myom1 |
A |
C |
17: 71,384,762 (GRCm39) |
I718L |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,452,983 (GRCm39) |
R26H |
probably benign |
Het |
| Or52e4 |
G |
A |
7: 104,706,179 (GRCm39) |
C242Y |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,578,534 (GRCm39) |
E824G |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,678 (GRCm39) |
I262N |
possibly damaging |
Het |
| Rbm19 |
T |
G |
5: 120,268,799 (GRCm39) |
S476A |
possibly damaging |
Het |
| Rpl39l |
T |
A |
16: 9,992,162 (GRCm39) |
|
probably null |
Het |
| Sec24b |
A |
G |
3: 129,834,554 (GRCm39) |
S79P |
probably benign |
Het |
| Slc15a2 |
G |
A |
16: 36,594,935 (GRCm39) |
A146V |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,189,675 (GRCm39) |
Y161C |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,933,259 (GRCm39) |
C652S |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,869,231 (GRCm39) |
I1499T |
probably damaging |
Het |
| Tnnt1 |
A |
G |
7: 4,510,594 (GRCm39) |
L209P |
probably damaging |
Het |
| Trim52 |
T |
G |
14: 106,344,973 (GRCm39) |
S210R |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,039 (GRCm39) |
N82K |
possibly damaging |
Het |
| Wdr75 |
T |
C |
1: 45,856,470 (GRCm39) |
Y498H |
probably benign |
Het |
| Zfp955a |
C |
T |
17: 33,462,726 (GRCm39) |
S56N |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCAAACGTTCCTTAATCCTGTC -3'
(R):5'- TCTGAACTGACCTCCCAAGCTGAC -3'
Sequencing Primer
(F):5'- CTAGACCTCATAGAGCAAGCGTG -3'
(R):5'- ccacaaacacccttacccac -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation