Incidental Mutation 'IGL02502:Akap12'
| ID |
296076 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akap12
|
| Ensembl Gene |
ENSMUSG00000038587 |
| Gene Name |
A kinase anchor protein 12 |
| Synonyms |
Tsga12, Srcs5, SSeCKS |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL02502
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4303163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 96
(D96G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045730]
[ENSMUST00000215696]
|
| AlphaFold |
Q9WTQ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045730
AA Change: D96G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: D96G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
198 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
212 |
279 |
3.2e-5 |
PROSPERO |
|
coiled coil region
|
304 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
582 |
N/A |
INTRINSIC |
|
Pfam:WSK
|
591 |
619 |
2e-15 |
PFAM |
|
low complexity region
|
626 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
711 |
N/A |
INTRINSIC |
|
Pfam:WSK
|
738 |
766 |
2.3e-15 |
PFAM |
|
Pfam:WSK
|
779 |
807 |
6.2e-11 |
PFAM |
|
low complexity region
|
951 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1065 |
N/A |
INTRINSIC |
|
low complexity region
|
1177 |
1187 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1197 |
1265 |
3.2e-5 |
PROSPERO |
|
low complexity region
|
1303 |
1312 |
N/A |
INTRINSIC |
|
Pfam:RII_binding_1
|
1501 |
1518 |
4.2e-7 |
PFAM |
|
coiled coil region
|
1651 |
1676 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216139
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele disrupting all three common isoforms suffer from prostatic hyperplasia and focal dysplasia, and from delayed fertility. Mice homozygous for a gene trap allele exhibit enhanced cardiac function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
G |
2: 127,917,804 (GRCm39) |
N216S |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,286,440 (GRCm39) |
V1353A |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,730,877 (GRCm39) |
D914G |
probably damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,601,439 (GRCm39) |
V84A |
possibly damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,325,623 (GRCm39) |
E282G |
probably damaging |
Het |
| C2cd2 |
G |
T |
16: 97,677,590 (GRCm39) |
S378Y |
possibly damaging |
Het |
| Cd101 |
C |
A |
3: 100,919,141 (GRCm39) |
A654S |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,262,209 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
A |
G |
5: 87,828,784 (GRCm39) |
I283V |
probably benign |
Het |
| Cst3 |
A |
G |
2: 148,717,065 (GRCm39) |
|
probably benign |
Het |
| Cyp2b9 |
T |
C |
7: 25,887,239 (GRCm39) |
|
probably null |
Het |
| Dffb |
A |
G |
4: 154,050,073 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,898,351 (GRCm39) |
Y3711C |
probably damaging |
Het |
| Eif4g2 |
T |
C |
7: 110,680,748 (GRCm39) |
S3G |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,406,153 (GRCm39) |
R1088H |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,544 (GRCm39) |
D1382G |
probably damaging |
Het |
| Fam168a |
A |
G |
7: 100,473,417 (GRCm39) |
D102G |
probably damaging |
Het |
| Fbxo7 |
A |
G |
10: 85,869,161 (GRCm39) |
Y284C |
probably damaging |
Het |
| G6pd2 |
T |
C |
5: 61,966,971 (GRCm39) |
Y249H |
probably damaging |
Het |
| Gm1123 |
A |
T |
9: 98,891,443 (GRCm39) |
Y335* |
probably null |
Het |
| Gm5624 |
C |
T |
14: 44,797,296 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,844,635 (GRCm39) |
M536K |
possibly damaging |
Het |
| Ikbkg |
T |
A |
X: 73,487,433 (GRCm39) |
V334E |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,650,257 (GRCm39) |
L769P |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 67,061,640 (GRCm39) |
K1331I |
probably benign |
Het |
| Krt32 |
T |
C |
11: 99,978,749 (GRCm39) |
K102E |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,699,394 (GRCm39) |
N20K |
probably benign |
Het |
| Lrrc47 |
A |
G |
4: 154,100,471 (GRCm39) |
E349G |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,670,579 (GRCm39) |
I415V |
possibly damaging |
Het |
| Myh10 |
A |
G |
11: 68,705,198 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,462,836 (GRCm39) |
S1376P |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,976,345 (GRCm39) |
|
probably benign |
Het |
| Nherf4 |
G |
A |
9: 44,160,948 (GRCm39) |
A206V |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,252 (GRCm39) |
C246* |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,969,143 (GRCm39) |
Y976C |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,696 (GRCm39) |
V82A |
probably damaging |
Het |
| Or52n4b |
T |
A |
7: 108,143,846 (GRCm39) |
M36K |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,563,112 (GRCm39) |
Y105C |
probably damaging |
Het |
| P2rx7 |
C |
T |
5: 122,819,050 (GRCm39) |
R491C |
possibly damaging |
Het |
| Phex |
T |
A |
X: 155,966,823 (GRCm39) |
Y625F |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,462,389 (GRCm39) |
D2055G |
probably damaging |
Het |
| Pmm2 |
T |
C |
16: 8,463,227 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,640,539 (GRCm39) |
D16G |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,101,245 (GRCm39) |
C2250S |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,057,443 (GRCm39) |
F48Y |
probably benign |
Het |
| Rhoq |
T |
C |
17: 87,271,077 (GRCm39) |
V15A |
probably damaging |
Het |
| Rnf216 |
G |
A |
5: 143,054,622 (GRCm39) |
A585V |
probably damaging |
Het |
| Septin9 |
T |
A |
11: 117,181,488 (GRCm39) |
I96N |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,070,101 (GRCm39) |
D1492E |
possibly damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,768,125 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
G |
4: 94,741,818 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,741,051 (GRCm39) |
E782G |
probably damaging |
Het |
| Trmt5 |
A |
G |
12: 73,328,001 (GRCm39) |
C401R |
probably benign |
Het |
| Tspear |
T |
G |
10: 77,688,792 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
A |
15: 38,030,933 (GRCm39) |
T414I |
probably benign |
Het |
| Vcl |
A |
T |
14: 21,069,453 (GRCm39) |
T710S |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,816,392 (GRCm39) |
D396E |
probably damaging |
Het |
| Wtip |
A |
G |
7: 33,818,094 (GRCm39) |
|
probably null |
Het |
| Zap70 |
A |
G |
1: 36,817,887 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Akap12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00712:Akap12
|
APN |
10 |
4,357,164 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL01306:Akap12
|
APN |
10 |
4,303,273 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01360:Akap12
|
APN |
10 |
4,307,537 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01455:Akap12
|
APN |
10 |
4,306,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01458:Akap12
|
APN |
10 |
4,304,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01465:Akap12
|
APN |
10 |
4,306,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02348:Akap12
|
APN |
10 |
4,304,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02425:Akap12
|
APN |
10 |
4,306,034 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02736:Akap12
|
APN |
10 |
4,305,637 (GRCm39) |
missense |
probably benign |
|
|
IGL02969:Akap12
|
APN |
10 |
4,304,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03345:Akap12
|
APN |
10 |
4,306,697 (GRCm39) |
missense |
probably benign |
0.42 |
|
ANU23:Akap12
|
UTSW |
10 |
4,303,273 (GRCm39) |
missense |
probably benign |
0.04 |
|
FR4976:Akap12
|
UTSW |
10 |
4,303,837 (GRCm39) |
small insertion |
probably benign |
|
|
R0004:Akap12
|
UTSW |
10 |
4,303,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0004:Akap12
|
UTSW |
10 |
4,303,218 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0207:Akap12
|
UTSW |
10 |
4,303,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0580:Akap12
|
UTSW |
10 |
4,304,741 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0675:Akap12
|
UTSW |
10 |
4,303,315 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1248:Akap12
|
UTSW |
10 |
4,303,847 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1338:Akap12
|
UTSW |
10 |
4,263,773 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1448:Akap12
|
UTSW |
10 |
4,305,475 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1458:Akap12
|
UTSW |
10 |
4,303,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Akap12
|
UTSW |
10 |
4,304,804 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1585:Akap12
|
UTSW |
10 |
4,303,640 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1725:Akap12
|
UTSW |
10 |
4,303,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Akap12
|
UTSW |
10 |
4,307,574 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1914:Akap12
|
UTSW |
10 |
4,306,685 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1978:Akap12
|
UTSW |
10 |
4,263,855 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2032:Akap12
|
UTSW |
10 |
4,306,673 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2041:Akap12
|
UTSW |
10 |
4,306,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3009:Akap12
|
UTSW |
10 |
4,307,891 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3872:Akap12
|
UTSW |
10 |
4,307,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3874:Akap12
|
UTSW |
10 |
4,307,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3875:Akap12
|
UTSW |
10 |
4,307,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3944:Akap12
|
UTSW |
10 |
4,307,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4612:Akap12
|
UTSW |
10 |
4,304,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4889:Akap12
|
UTSW |
10 |
4,306,535 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5043:Akap12
|
UTSW |
10 |
4,305,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Akap12
|
UTSW |
10 |
4,303,947 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5278:Akap12
|
UTSW |
10 |
4,304,792 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5320:Akap12
|
UTSW |
10 |
4,307,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5443:Akap12
|
UTSW |
10 |
4,305,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5533:Akap12
|
UTSW |
10 |
4,307,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6133:Akap12
|
UTSW |
10 |
4,305,178 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6142:Akap12
|
UTSW |
10 |
4,263,740 (GRCm39) |
splice site |
probably null |
|
|
R6190:Akap12
|
UTSW |
10 |
4,306,268 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6458:Akap12
|
UTSW |
10 |
4,305,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6562:Akap12
|
UTSW |
10 |
4,306,141 (GRCm39) |
nonsense |
probably null |
|
|
R6701:Akap12
|
UTSW |
10 |
4,305,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6828:Akap12
|
UTSW |
10 |
4,304,606 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6991:Akap12
|
UTSW |
10 |
4,307,122 (GRCm39) |
nonsense |
probably null |
|
|
R7023:Akap12
|
UTSW |
10 |
4,306,895 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7102:Akap12
|
UTSW |
10 |
4,303,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Akap12
|
UTSW |
10 |
4,303,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7538:Akap12
|
UTSW |
10 |
4,303,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Akap12
|
UTSW |
10 |
4,303,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7704:Akap12
|
UTSW |
10 |
4,306,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8447:Akap12
|
UTSW |
10 |
4,306,289 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8502:Akap12
|
UTSW |
10 |
4,263,856 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8910:Akap12
|
UTSW |
10 |
4,263,822 (GRCm39) |
missense |
probably benign |
|
|
R8946:Akap12
|
UTSW |
10 |
4,304,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Akap12
|
UTSW |
10 |
4,306,744 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9237:Akap12
|
UTSW |
10 |
4,307,231 (GRCm39) |
missense |
probably benign |
|
|
R9347:Akap12
|
UTSW |
10 |
4,303,640 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9428:Akap12
|
UTSW |
10 |
4,303,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9734:Akap12
|
UTSW |
10 |
4,305,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation