Incidental Mutation 'R9003:Akap12'
| ID |
685098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap12
|
| Ensembl Gene |
ENSMUSG00000038587 |
| Gene Name |
A kinase anchor protein 12 |
| Synonyms |
Tsga12, Srcs5, SSeCKS |
| MMRRC Submission |
068833-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R9003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4306744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1290
(S1290G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045730]
[ENSMUST00000215696]
|
| AlphaFold |
Q9WTQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045730
AA Change: S1290G
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: S1290G
| 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
AA Change: S1185G
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.0727 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,850,013 (GRCm39) |
H917Y |
possibly damaging |
Het |
| Acot4 |
A |
G |
12: 84,089,969 (GRCm39) |
K222R |
possibly damaging |
Het |
| Arid1a |
T |
C |
4: 133,411,799 (GRCm39) |
I1311V |
unknown |
Het |
| Asf1b |
G |
T |
8: 84,682,530 (GRCm39) |
E25* |
probably null |
Het |
| Atp10a |
T |
A |
7: 58,457,203 (GRCm39) |
W901R |
probably damaging |
Het |
| Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,905 (GRCm39) |
T1253A |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,508,132 (GRCm39) |
T639A |
possibly damaging |
Het |
| Cdca4 |
A |
G |
12: 112,785,659 (GRCm39) |
V23A |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,312,943 (GRCm39) |
F290L |
probably damaging |
Het |
| Clca3b |
C |
T |
3: 144,533,072 (GRCm39) |
W653* |
probably null |
Het |
| Coa8 |
A |
G |
12: 111,688,189 (GRCm39) |
*45W |
probably null |
Het |
| Cpb2 |
A |
T |
14: 75,479,868 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,836,001 (GRCm39) |
V1215A |
possibly damaging |
Het |
| Cxxc4 |
A |
T |
3: 133,945,431 (GRCm39) |
N4I |
unknown |
Het |
| Eps8l1 |
G |
T |
7: 4,464,016 (GRCm39) |
V47F |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,587,097 (GRCm39) |
I537T |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,176,591 (GRCm39) |
Y2040C |
probably damaging |
Het |
| Gfm2 |
T |
G |
13: 97,282,889 (GRCm39) |
|
probably benign |
Het |
| Jak2 |
A |
T |
19: 29,254,240 (GRCm39) |
M187L |
probably benign |
Het |
| Kif5b |
A |
G |
18: 6,224,047 (GRCm39) |
V247A |
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,589,612 (GRCm39) |
V91A |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,356,894 (GRCm39) |
S17G |
probably benign |
Het |
| Madd |
C |
A |
2: 90,988,359 (GRCm39) |
E1223* |
probably null |
Het |
| Mecom |
T |
C |
3: 30,034,639 (GRCm39) |
I346V |
probably benign |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,704,471 (GRCm39) |
T662M |
probably benign |
Het |
| Or10g3b |
T |
A |
14: 52,586,768 (GRCm39) |
H245L |
probably damaging |
Het |
| Or2y1b |
C |
T |
11: 49,209,155 (GRCm39) |
P261S |
possibly damaging |
Het |
| Or4c117 |
T |
A |
2: 88,956,024 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or4k42 |
A |
G |
2: 111,320,411 (GRCm39) |
F31L |
probably benign |
Het |
| Or5ac19 |
A |
T |
16: 59,089,263 (GRCm39) |
F256I |
probably benign |
Het |
| Or8c18 |
C |
T |
9: 38,203,343 (GRCm39) |
T34I |
probably benign |
Het |
| Phc3 |
G |
A |
3: 31,020,007 (GRCm39) |
T19I |
possibly damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,007,282 (GRCm39) |
Q472L |
probably benign |
Het |
| Plcg2 |
C |
T |
8: 118,342,002 (GRCm39) |
T1121I |
|
Het |
| Plin2 |
T |
C |
4: 86,580,324 (GRCm39) |
T146A |
probably benign |
Het |
| Pum1 |
T |
G |
4: 130,474,393 (GRCm39) |
S488A |
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,539,002 (GRCm39) |
|
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,822,188 (GRCm39) |
L102P |
probably damaging |
Het |
| Sbno2 |
A |
T |
10: 79,896,049 (GRCm39) |
V939E |
probably damaging |
Het |
| Scarf1 |
A |
T |
11: 75,406,069 (GRCm39) |
T118S |
possibly damaging |
Het |
| Sdcbp2 |
G |
A |
2: 151,429,113 (GRCm39) |
V171M |
probably benign |
Het |
| Sh3pxd2b |
T |
C |
11: 32,361,571 (GRCm39) |
I261T |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,673,787 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
A |
G |
10: 57,683,977 (GRCm39) |
Y245C |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,222,462 (GRCm39) |
I201V |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,324,204 (GRCm39) |
L25P |
possibly damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,859 (GRCm39) |
H210R |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,591,446 (GRCm39) |
Y457N |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Tpp1 |
T |
A |
7: 105,398,156 (GRCm39) |
I336F |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,424,896 (GRCm39) |
V1574I |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,400,029 (GRCm39) |
K1277E |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,905,181 (GRCm39) |
D219E |
probably benign |
Het |
| Zbtb40 |
G |
T |
4: 136,745,904 (GRCm39) |
A43E |
probably damaging |
Het |
| Zfp970 |
G |
A |
2: 177,167,010 (GRCm39) |
A195T |
probably damaging |
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 |
|
IGL02502:Akap12
|
APN |
10 |
4,303,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATGTTCTAGAACCCACAC -3'
(R):5'- CTCTCTGAGTGAGGCATGTC -3'
Sequencing Primer
(F):5'- CCTATTCTGGCAAAGGCTGAG -3'
(R):5'- CATGTCAGCTGTCAGGACTG -3'
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| Posted On |
2021-10-11 |
Incidental Mutation