Incidental Mutation 'R1646:Iqca1'
ID |
173851 |
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 |
039682-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1646 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90067760 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 164
(V164M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
AlphaFold |
Q9CUL5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113094
AA Change: V164M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108717 Gene: ENSMUSG00000026301 AA Change: V164M
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: V164M
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.8%
|
Validation Efficiency |
96% (69/72) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
T |
G |
4: 63,302,129 (GRCm39) |
I581L |
probably benign |
Het |
Cacnb4 |
A |
G |
2: 52,364,912 (GRCm39) |
I117T |
possibly damaging |
Het |
Capn1 |
A |
T |
19: 6,047,760 (GRCm39) |
F434L |
probably benign |
Het |
Cbs |
T |
C |
17: 31,832,169 (GRCm39) |
T547A |
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,739,948 (GRCm39) |
L2557* |
probably null |
Het |
Dach1 |
A |
G |
14: 98,406,550 (GRCm39) |
S66P |
unknown |
Het |
Ddx31 |
T |
C |
2: 28,782,532 (GRCm39) |
V625A |
probably benign |
Het |
Dmxl1 |
T |
G |
18: 50,095,328 (GRCm39) |
V2969G |
probably damaging |
Het |
Eapp |
T |
A |
12: 54,732,745 (GRCm39) |
K122* |
probably null |
Het |
Elapor1 |
A |
T |
3: 108,370,306 (GRCm39) |
S751T |
probably damaging |
Het |
Epb41l5 |
G |
T |
1: 119,477,752 (GRCm39) |
|
probably benign |
Het |
Fat1 |
T |
C |
8: 45,471,079 (GRCm39) |
S1628P |
probably damaging |
Het |
Fgfr2 |
T |
A |
7: 129,844,374 (GRCm39) |
E37V |
probably damaging |
Het |
Fgfr4 |
A |
T |
13: 55,313,777 (GRCm39) |
N529Y |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,808,861 (GRCm39) |
T1727S |
probably benign |
Het |
Gak |
A |
T |
5: 108,750,720 (GRCm39) |
S397T |
probably damaging |
Het |
Gm6040 |
T |
A |
8: 21,407,113 (GRCm39) |
I36F |
possibly damaging |
Het |
Grhl1 |
A |
G |
12: 24,661,860 (GRCm39) |
D513G |
possibly damaging |
Het |
Gstt1 |
T |
A |
10: 75,619,940 (GRCm39) |
D219V |
possibly damaging |
Het |
Hcfc2 |
T |
G |
10: 82,536,861 (GRCm39) |
V91G |
probably damaging |
Het |
Hells |
A |
T |
19: 38,956,227 (GRCm39) |
I808L |
probably benign |
Het |
Icmt |
T |
A |
4: 152,384,172 (GRCm39) |
V110E |
possibly damaging |
Het |
Ilrun |
A |
G |
17: 28,012,934 (GRCm39) |
S88P |
probably damaging |
Het |
Klri1 |
G |
A |
6: 129,680,299 (GRCm39) |
P119S |
probably benign |
Het |
Krt71 |
C |
A |
15: 101,647,199 (GRCm39) |
|
probably null |
Het |
Lpin1 |
A |
G |
12: 16,623,659 (GRCm39) |
|
probably null |
Het |
Macir |
A |
T |
1: 97,573,531 (GRCm39) |
I178N |
probably damaging |
Het |
Metap2 |
T |
C |
10: 93,706,059 (GRCm39) |
H241R |
probably damaging |
Het |
Myh15 |
A |
G |
16: 49,015,931 (GRCm39) |
Y1869C |
probably damaging |
Het |
Myo1h |
G |
A |
5: 114,455,693 (GRCm39) |
G59E |
possibly damaging |
Het |
Ncam2 |
T |
G |
16: 81,262,594 (GRCm39) |
|
probably benign |
Het |
Npat |
T |
C |
9: 53,466,434 (GRCm39) |
V241A |
probably benign |
Het |
Npbwr1 |
C |
A |
1: 5,987,473 (GRCm39) |
V14L |
probably benign |
Het |
Nup37 |
T |
A |
10: 88,014,096 (GRCm39) |
V323E |
possibly damaging |
Het |
Or11g27 |
A |
T |
14: 50,771,040 (GRCm39) |
Q57L |
probably benign |
Het |
Or5m9b |
A |
G |
2: 85,905,960 (GRCm39) |
N292S |
probably damaging |
Het |
Or5p59 |
C |
T |
7: 107,702,798 (GRCm39) |
T94I |
probably benign |
Het |
Or7a35 |
C |
A |
10: 78,853,340 (GRCm39) |
Y61* |
probably null |
Het |
Pdlim4 |
A |
T |
11: 53,947,080 (GRCm39) |
L132Q |
possibly damaging |
Het |
Ptcd3 |
T |
C |
6: 71,875,379 (GRCm39) |
D201G |
probably benign |
Het |
Ptk7 |
A |
T |
17: 46,897,223 (GRCm39) |
F370I |
probably benign |
Het |
Pus7l |
T |
C |
15: 94,431,517 (GRCm39) |
N371D |
probably benign |
Het |
Pzp |
G |
A |
6: 128,480,518 (GRCm39) |
A589V |
probably benign |
Het |
Rasef |
T |
A |
4: 73,652,786 (GRCm39) |
R572W |
probably damaging |
Het |
Reep5 |
T |
C |
18: 34,482,712 (GRCm39) |
T166A |
probably benign |
Het |
Rhov |
A |
G |
2: 119,101,501 (GRCm39) |
V35A |
probably damaging |
Het |
Ripk4 |
C |
T |
16: 97,545,097 (GRCm39) |
G517R |
probably damaging |
Het |
Rnasel |
A |
G |
1: 153,630,800 (GRCm39) |
T439A |
probably damaging |
Het |
Slamf9 |
A |
G |
1: 172,304,907 (GRCm39) |
T174A |
probably benign |
Het |
Slc12a9 |
A |
G |
5: 137,321,411 (GRCm39) |
L414P |
probably damaging |
Het |
Slf1 |
G |
A |
13: 77,214,767 (GRCm39) |
R640* |
probably null |
Het |
Slfn8 |
G |
T |
11: 82,907,712 (GRCm39) |
P277Q |
probably damaging |
Het |
Stpg2 |
T |
A |
3: 139,125,463 (GRCm39) |
|
probably benign |
Het |
Tm9sf3 |
A |
C |
19: 41,211,618 (GRCm39) |
N408K |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,758,433 (GRCm39) |
V2049A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,645,077 (GRCm39) |
I11180N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,148,018 (GRCm39) |
C982R |
probably damaging |
Het |
Usp36 |
C |
T |
11: 118,164,392 (GRCm39) |
V207M |
probably damaging |
Het |
Uvrag |
T |
C |
7: 98,767,431 (GRCm39) |
T67A |
probably damaging |
Het |
Vasp |
G |
A |
7: 18,994,903 (GRCm39) |
|
probably benign |
Het |
Vmn2r115 |
T |
C |
17: 23,578,513 (GRCm39) |
F662S |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,366,434 (GRCm39) |
C167S |
probably damaging |
Het |
Vmn2r71 |
C |
A |
7: 85,270,476 (GRCm39) |
N547K |
probably damaging |
Het |
Wasf2 |
A |
G |
4: 132,903,902 (GRCm39) |
I37V |
probably benign |
Het |
Wwc2 |
T |
C |
8: 48,295,937 (GRCm39) |
E1111G |
unknown |
Het |
Zfp317 |
A |
G |
9: 19,558,608 (GRCm39) |
Y274C |
probably damaging |
Het |
Zhx3 |
T |
C |
2: 160,623,195 (GRCm39) |
Y324C |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,754,862 (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 |
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'- TGTTTCTCCAGGCTAAGCCAATAAACC -3'
(R):5'- CTTTAAGTCAGGGTCACAGTCTACAGC -3'
Sequencing Primer
(F):5'- GTGGAGTTTACTAACTCAACCCAG -3'
(R):5'- TGAGGCATCTCATGGGTTCA -3'
|
Posted On |
2014-04-24 |