Incidental Mutation 'R5951:Iqca1'
ID |
470859 |
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 |
044141-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5951 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 90067819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148643
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
[ENSMUST00000212394]
|
AlphaFold |
Q9CUL5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000113094
|
SMART Domains |
Protein: ENSMUSP00000108717 Gene: ENSMUSG00000026301
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
|
Predicted Effect |
probably null
Transcript: ENSMUST00000212394
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (78/78) |
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 |
4930568D16Rik |
T |
A |
2: 35,244,811 (GRCm39) |
E180D |
probably damaging |
Het |
Add3 |
A |
G |
19: 53,232,720 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,590,620 (GRCm39) |
I4396N |
probably damaging |
Het |
Apc |
C |
T |
18: 34,450,199 (GRCm39) |
S2331L |
possibly damaging |
Het |
Apoh |
G |
T |
11: 108,286,729 (GRCm39) |
C51F |
probably damaging |
Het |
Arid4b |
T |
C |
13: 14,317,648 (GRCm39) |
V177A |
possibly damaging |
Het |
Atp13a1 |
T |
A |
8: 70,249,935 (GRCm39) |
I343N |
probably damaging |
Het |
Bcar1 |
T |
C |
8: 112,440,032 (GRCm39) |
D654G |
probably benign |
Het |
Brox |
T |
C |
1: 183,064,072 (GRCm39) |
K245R |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,524,577 (GRCm39) |
S258R |
possibly damaging |
Het |
Ccdc169 |
A |
C |
3: 55,047,562 (GRCm39) |
K18Q |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Crot |
C |
A |
5: 9,019,120 (GRCm39) |
E478* |
probably null |
Het |
Dgkq |
A |
T |
5: 108,802,236 (GRCm39) |
M443K |
probably damaging |
Het |
Dhx32 |
A |
T |
7: 133,339,057 (GRCm39) |
L326Q |
probably damaging |
Het |
Dtwd1 |
A |
G |
2: 126,000,342 (GRCm39) |
I93V |
probably benign |
Het |
Ehmt2 |
C |
T |
17: 35,118,357 (GRCm39) |
T44I |
probably benign |
Het |
Enc1 |
T |
C |
13: 97,381,765 (GRCm39) |
S92P |
probably benign |
Het |
Epha5 |
T |
C |
5: 84,479,051 (GRCm39) |
|
probably benign |
Het |
Eya4 |
T |
A |
10: 23,031,892 (GRCm39) |
S244C |
probably damaging |
Het |
Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
Fscn3 |
A |
T |
6: 28,436,173 (GRCm39) |
I490F |
possibly damaging |
Het |
Galntl6 |
A |
G |
8: 58,415,436 (GRCm39) |
V239A |
probably benign |
Het |
Glg1 |
T |
C |
8: 111,892,323 (GRCm39) |
I841V |
possibly damaging |
Het |
Gm15455 |
T |
C |
1: 33,876,893 (GRCm39) |
|
noncoding transcript |
Het |
Gpd1l |
C |
T |
9: 114,743,473 (GRCm39) |
M142I |
probably benign |
Het |
Helb |
A |
G |
10: 119,927,653 (GRCm39) |
V819A |
possibly damaging |
Het |
Hnrnpul2 |
T |
G |
19: 8,802,255 (GRCm39) |
F374C |
probably damaging |
Het |
Hoxc10 |
G |
A |
15: 102,875,753 (GRCm39) |
S154N |
possibly damaging |
Het |
Ice2 |
A |
T |
9: 69,319,651 (GRCm39) |
T367S |
possibly damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Klhl14 |
T |
A |
18: 21,784,677 (GRCm39) |
H250L |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,535,801 (GRCm39) |
D1447E |
probably benign |
Het |
Larp1 |
G |
T |
11: 57,940,765 (GRCm39) |
M630I |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,326,667 (GRCm39) |
|
probably null |
Het |
Map4k3 |
G |
T |
17: 80,911,427 (GRCm39) |
Q673K |
probably benign |
Het |
Mettl16 |
A |
G |
11: 74,686,823 (GRCm39) |
N201D |
possibly damaging |
Het |
Mrpl15 |
C |
A |
1: 4,855,956 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,998,222 (GRCm39) |
V655D |
probably damaging |
Het |
Odf1 |
T |
C |
15: 38,226,531 (GRCm39) |
Y144H |
probably damaging |
Het |
Or2f1b |
G |
T |
6: 42,739,493 (GRCm39) |
C169F |
probably damaging |
Het |
Or5t5 |
G |
T |
2: 86,616,571 (GRCm39) |
V166L |
probably benign |
Het |
Padi1 |
T |
C |
4: 140,542,140 (GRCm39) |
Y594C |
probably damaging |
Het |
Palm3 |
T |
A |
8: 84,756,049 (GRCm39) |
D520E |
probably benign |
Het |
Paox |
G |
A |
7: 139,707,567 (GRCm39) |
C130Y |
probably damaging |
Het |
Parpbp |
T |
A |
10: 87,975,769 (GRCm39) |
S115C |
probably damaging |
Het |
Pcnx3 |
A |
G |
19: 5,721,708 (GRCm39) |
V1438A |
possibly damaging |
Het |
Pdlim2 |
T |
A |
14: 70,405,229 (GRCm39) |
D212V |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,121,006 (GRCm39) |
F53L |
probably damaging |
Het |
Pik3c2a |
A |
T |
7: 115,967,419 (GRCm39) |
D839E |
probably damaging |
Het |
Pou2f1 |
T |
C |
1: 165,710,625 (GRCm39) |
|
probably benign |
Het |
Ppl |
A |
T |
16: 4,906,492 (GRCm39) |
Y1268N |
probably benign |
Het |
Prelid3a |
C |
T |
18: 67,598,011 (GRCm39) |
S6L |
probably benign |
Het |
Ptk2 |
T |
G |
15: 73,175,682 (GRCm39) |
D285A |
possibly damaging |
Het |
Rasd2 |
T |
G |
8: 75,948,811 (GRCm39) |
Y246D |
probably damaging |
Het |
Rhbdl2 |
A |
G |
4: 123,708,120 (GRCm39) |
T110A |
probably benign |
Het |
Rhobtb1 |
T |
A |
10: 69,106,085 (GRCm39) |
F217I |
probably damaging |
Het |
Serhl |
T |
C |
15: 82,987,237 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 62,123,078 (GRCm39) |
E613G |
probably damaging |
Het |
Slc26a3 |
A |
G |
12: 31,502,714 (GRCm39) |
|
probably benign |
Het |
Steap4 |
T |
C |
5: 8,025,769 (GRCm39) |
I110T |
probably benign |
Het |
Syde1 |
C |
A |
10: 78,425,150 (GRCm39) |
R287L |
possibly damaging |
Het |
Tmem184c |
C |
T |
8: 78,325,291 (GRCm39) |
|
probably null |
Het |
Trmt44 |
C |
A |
5: 35,730,032 (GRCm39) |
|
probably benign |
Het |
Ttbk2 |
G |
T |
2: 120,603,764 (GRCm39) |
S256R |
probably benign |
Het |
Ttll6 |
A |
T |
11: 96,036,336 (GRCm39) |
I322F |
probably damaging |
Het |
Ubap2 |
A |
T |
4: 41,205,753 (GRCm39) |
|
probably null |
Het |
Wsb2 |
A |
T |
5: 117,515,600 (GRCm39) |
T402S |
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 |
|
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 |
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'- GTCCCAACAGCTTCATCTCC -3'
(R):5'- ACATGAGCCCTGTGTTTAAGC -3'
Sequencing Primer
(F):5'- CTTGGCTCTGCACTCCTGAAG -3'
(R):5'- ATTTGCGAACTTGTCCCCAGAAG -3'
|
Posted On |
2017-03-31 |