Incidental Mutation 'R1585:Akap12'
| ID |
177452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap12
|
| Ensembl Gene |
ENSMUSG00000038587 |
| Gene Name |
A kinase anchor protein 12 |
| Synonyms |
Tsga12, Srcs5, SSeCKS |
| MMRRC Submission |
039622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R1585 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4303640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 150
(D150G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045730]
[ENSMUST00000215696]
|
| AlphaFold |
Q9WTQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045730
AA Change: D255G
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: D255G
| 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: D150G
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216139
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.2%
|
| Validation Efficiency |
95% (81/85) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
A |
10: 28,858,518 (GRCm39) |
I50F |
possibly damaging |
Het |
| 4930505A04Rik |
T |
C |
11: 30,377,175 (GRCm39) |
|
probably benign |
Het |
| Aadat |
A |
T |
8: 60,979,714 (GRCm39) |
D192V |
possibly damaging |
Het |
| Amigo3 |
A |
T |
9: 107,931,231 (GRCm39) |
N218I |
probably damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,827,373 (GRCm39) |
S60P |
probably benign |
Het |
| Apol7e |
G |
A |
15: 77,602,029 (GRCm39) |
S209N |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,510,632 (GRCm39) |
Y234* |
probably null |
Het |
| Bcam |
A |
T |
7: 19,494,111 (GRCm39) |
D393E |
probably damaging |
Het |
| Card9 |
A |
G |
2: 26,244,398 (GRCm39) |
L444P |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,586,780 (GRCm39) |
E886G |
unknown |
Het |
| Ccnb2 |
A |
T |
9: 70,317,559 (GRCm39) |
|
probably null |
Het |
| Cd276 |
T |
C |
9: 58,442,838 (GRCm39) |
S206G |
probably damaging |
Het |
| Cds1 |
T |
A |
5: 101,965,828 (GRCm39) |
|
probably benign |
Het |
| Cfap96 |
G |
A |
8: 46,409,515 (GRCm39) |
S268L |
probably benign |
Het |
| Chuk |
T |
C |
19: 44,065,812 (GRCm39) |
S661G |
possibly damaging |
Het |
| Col17a1 |
T |
C |
19: 47,639,276 (GRCm39) |
N1090D |
probably benign |
Het |
| Col3a1 |
A |
T |
1: 45,367,026 (GRCm39) |
|
probably null |
Het |
| Crispld1 |
G |
T |
1: 17,821,024 (GRCm39) |
V355F |
possibly damaging |
Het |
| Cspg4 |
A |
T |
9: 56,806,151 (GRCm39) |
R2321W |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,563,177 (GRCm39) |
T61A |
probably benign |
Het |
| Dnmt3a |
A |
T |
12: 3,951,660 (GRCm39) |
Y679F |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,798,241 (GRCm39) |
|
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,968,381 (GRCm39) |
S217P |
possibly damaging |
Het |
| Fbxo42 |
T |
A |
4: 140,925,417 (GRCm39) |
|
probably benign |
Het |
| Fhod1 |
A |
T |
8: 106,063,957 (GRCm39) |
|
probably benign |
Het |
| Fzd1 |
T |
A |
5: 4,806,278 (GRCm39) |
I435F |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,602,207 (GRCm39) |
V647I |
possibly damaging |
Het |
| Gm14496 |
T |
C |
2: 181,638,002 (GRCm39) |
S359P |
possibly damaging |
Het |
| Gm5218 |
C |
A |
15: 81,383,741 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnph3 |
A |
G |
10: 62,851,579 (GRCm39) |
|
probably null |
Het |
| Hsd17b12 |
G |
T |
2: 93,864,321 (GRCm39) |
T262K |
probably damaging |
Het |
| Igsf10 |
G |
C |
3: 59,237,838 (GRCm39) |
P781R |
probably damaging |
Het |
| Il11ra1 |
T |
A |
4: 41,768,207 (GRCm39) |
S373T |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,942,345 (GRCm39) |
D612G |
probably damaging |
Het |
| Ldb1 |
T |
C |
19: 46,022,903 (GRCm39) |
T261A |
probably damaging |
Het |
| Lep |
C |
A |
6: 29,069,089 (GRCm39) |
H47N |
possibly damaging |
Het |
| Lrrtm2 |
A |
T |
18: 35,346,428 (GRCm39) |
S291R |
possibly damaging |
Het |
| Ncor2 |
T |
C |
5: 125,162,062 (GRCm39) |
Q404R |
unknown |
Het |
| Nlrp4d |
T |
C |
7: 10,116,437 (GRCm39) |
H148R |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,258,093 (GRCm39) |
D570E |
probably benign |
Het |
| Nphp3 |
G |
A |
9: 103,886,413 (GRCm39) |
V202I |
probably damaging |
Het |
| Nptn |
T |
A |
9: 58,548,073 (GRCm39) |
N159K |
probably benign |
Het |
| Or4a69 |
T |
A |
2: 89,313,315 (GRCm39) |
T55S |
probably benign |
Het |
| Or4a72 |
A |
T |
2: 89,405,746 (GRCm39) |
V108D |
possibly damaging |
Het |
| Or51f2 |
G |
A |
7: 102,526,980 (GRCm39) |
V218I |
probably benign |
Het |
| Or52a24 |
A |
T |
7: 103,381,585 (GRCm39) |
T151S |
possibly damaging |
Het |
| Or8b53 |
A |
T |
9: 38,667,716 (GRCm39) |
H244L |
probably damaging |
Het |
| Pcolce |
T |
A |
5: 137,608,769 (GRCm39) |
R13* |
probably null |
Het |
| Pdgfra |
A |
G |
5: 75,353,264 (GRCm39) |
Y1018C |
probably damaging |
Het |
| Prima1 |
A |
G |
12: 103,201,854 (GRCm39) |
S74P |
probably damaging |
Het |
| Prl7c1 |
A |
G |
13: 27,962,838 (GRCm39) |
L55P |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,658,574 (GRCm39) |
V513A |
probably damaging |
Het |
| Rgs1 |
T |
C |
1: 144,121,227 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
C |
4: 121,005,488 (GRCm39) |
E1164G |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,354,171 (GRCm39) |
N4016I |
probably damaging |
Het |
| Sae1 |
C |
T |
7: 16,064,537 (GRCm39) |
|
probably null |
Het |
| Serping1 |
A |
T |
2: 84,601,848 (GRCm39) |
D207E |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,380,464 (GRCm39) |
D33E |
unknown |
Het |
| Simc1 |
T |
C |
13: 54,673,071 (GRCm39) |
M473T |
probably benign |
Het |
| Slc30a6 |
T |
A |
17: 74,725,610 (GRCm39) |
|
probably benign |
Het |
| Slc4a5 |
T |
C |
6: 83,242,669 (GRCm39) |
L346P |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,596,660 (GRCm39) |
Q1473L |
probably damaging |
Het |
| St3gal3 |
G |
T |
4: 117,817,204 (GRCm39) |
A44D |
possibly damaging |
Het |
| Sv2b |
G |
T |
7: 74,797,425 (GRCm39) |
T323K |
probably damaging |
Het |
| Sycp2 |
T |
A |
2: 177,993,461 (GRCm39) |
N1228I |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,910,030 (GRCm39) |
M190L |
probably benign |
Het |
| Tnrc6a |
G |
A |
7: 122,776,098 (GRCm39) |
V1190I |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,312,029 (GRCm39) |
I673K |
possibly damaging |
Het |
| Vmn2r114 |
C |
T |
17: 23,510,675 (GRCm39) |
V602M |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 64,057,989 (GRCm39) |
I1273L |
probably benign |
Het |
| Zfp618 |
T |
C |
4: 63,051,175 (GRCm39) |
L652P |
probably damaging |
Het |
| Zfp804a |
G |
A |
2: 81,884,095 (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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGATACCGTCCAGCTACTCAC -3'
(R):5'- GGCAACTCCACCTTCTCATAGTCG -3'
Sequencing Primer
(F):5'- GCTACTCACTGTCAAGAAGGATG -3'
(R):5'- AACCTGGCCTGGTCTGTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation