Incidental Mutation 'R1978:Akap12'
| ID |
222032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap12
|
| Ensembl Gene |
ENSMUSG00000038587 |
| Gene Name |
A kinase anchor protein 12 |
| Synonyms |
Tsga12, Srcs5, SSeCKS |
| MMRRC Submission |
039991-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R1978 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4263855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 88
(D88G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045730]
|
| AlphaFold |
Q9WTQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045730
AA Change: D88G
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: D88G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,880 (GRCm39) |
C205* |
probably null |
Het |
| 4921539E11Rik |
T |
A |
4: 103,127,961 (GRCm39) |
T55S |
possibly damaging |
Het |
| Ankrd53 |
C |
A |
6: 83,740,185 (GRCm39) |
F84L |
probably damaging |
Het |
| Apol7b |
A |
C |
15: 77,307,539 (GRCm39) |
F319V |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,991,748 (GRCm39) |
S1335P |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,936,228 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
A |
G |
4: 118,450,329 (GRCm39) |
S598P |
probably benign |
Het |
| Commd8 |
T |
C |
5: 72,322,842 (GRCm39) |
H25R |
probably damaging |
Het |
| Crisp4 |
T |
C |
1: 18,198,889 (GRCm39) |
I143V |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,295,342 (GRCm39) |
T483S |
probably benign |
Het |
| Dbx2 |
C |
T |
15: 95,530,234 (GRCm39) |
M244I |
probably damaging |
Het |
| Dnah6 |
T |
G |
6: 73,098,953 (GRCm39) |
H1982P |
possibly damaging |
Het |
| Fam220a |
C |
A |
5: 143,548,882 (GRCm39) |
P98Q |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,517 (GRCm39) |
K29E |
possibly damaging |
Het |
| Gm14569 |
A |
C |
X: 35,695,781 (GRCm39) |
M976R |
probably benign |
Het |
| Hck |
G |
T |
2: 152,971,776 (GRCm39) |
W112C |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,986,441 (GRCm39) |
S591T |
possibly damaging |
Het |
| Hhat |
A |
G |
1: 192,399,415 (GRCm39) |
S242P |
probably benign |
Het |
| Hnrnpll |
A |
G |
17: 80,351,947 (GRCm39) |
S333P |
probably benign |
Het |
| Hoxc6 |
T |
C |
15: 102,918,439 (GRCm39) |
|
probably null |
Het |
| Inpp5j |
G |
A |
11: 3,452,150 (GRCm39) |
P367S |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,009,343 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
T |
A |
18: 77,409,338 (GRCm39) |
I194N |
possibly damaging |
Het |
| Miga1 |
CCAGGGCAG |
CCAG |
3: 152,040,941 (GRCm39) |
|
probably null |
Het |
| Mkln1 |
C |
T |
6: 31,467,465 (GRCm39) |
Q60* |
probably null |
Het |
| Muc21 |
T |
A |
17: 35,933,857 (GRCm39) |
|
probably benign |
Het |
| Mybph |
C |
A |
1: 134,124,734 (GRCm39) |
H185N |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,470,829 (GRCm39) |
D9G |
possibly damaging |
Het |
| Myo6 |
A |
T |
9: 80,136,207 (GRCm39) |
D110V |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,567,295 (GRCm39) |
V412A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,177,357 (GRCm39) |
K1328R |
probably damaging |
Het |
| Olfm5 |
T |
A |
7: 103,813,948 (GRCm39) |
Q22L |
unknown |
Het |
| Or10ak7 |
A |
T |
4: 118,791,381 (GRCm39) |
Y221* |
probably null |
Het |
| Or4d11 |
T |
C |
19: 12,013,705 (GRCm39) |
T134A |
probably benign |
Het |
| Or5j1 |
C |
T |
2: 86,879,179 (GRCm39) |
V134M |
possibly damaging |
Het |
| Or6b3 |
C |
A |
1: 92,439,499 (GRCm39) |
G84C |
probably damaging |
Het |
| Or6p1 |
T |
A |
1: 174,258,657 (GRCm39) |
I221N |
probably damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,114 (GRCm39) |
Y36C |
probably damaging |
Het |
| P3h1 |
A |
T |
4: 119,105,173 (GRCm39) |
Q717L |
probably null |
Het |
| Pclo |
T |
C |
5: 14,763,809 (GRCm39) |
I4094T |
unknown |
Het |
| Pfdn6 |
G |
A |
17: 34,158,051 (GRCm39) |
R73W |
probably benign |
Het |
| Phyhipl |
A |
C |
10: 70,395,591 (GRCm39) |
M205R |
possibly damaging |
Het |
| Pitpnm1 |
C |
T |
19: 4,157,973 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,594,498 (GRCm39) |
|
probably null |
Het |
| Pnldc1 |
A |
G |
17: 13,125,392 (GRCm39) |
S81P |
possibly damaging |
Het |
| Pno1 |
T |
C |
11: 17,154,519 (GRCm39) |
I221V |
possibly damaging |
Het |
| Porcn |
A |
G |
X: 8,070,540 (GRCm39) |
V75A |
probably damaging |
Het |
| Prkcg |
T |
A |
7: 3,353,862 (GRCm39) |
C69S |
probably damaging |
Het |
| Rbbp6 |
G |
T |
7: 122,598,711 (GRCm39) |
|
probably benign |
Het |
| Resf1 |
T |
A |
6: 149,227,930 (GRCm39) |
N325K |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scly |
A |
G |
1: 91,247,891 (GRCm39) |
D413G |
probably damaging |
Het |
| Scn11a |
G |
A |
9: 119,609,861 (GRCm39) |
R996* |
probably null |
Het |
| Skic3 |
T |
C |
13: 76,282,934 (GRCm39) |
V752A |
probably benign |
Het |
| Slc6a13 |
A |
T |
6: 121,309,332 (GRCm39) |
D281V |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,847,442 (GRCm39) |
V109A |
probably benign |
Het |
| Smyd1 |
A |
T |
6: 71,289,703 (GRCm39) |
|
probably null |
Het |
| Snx29 |
T |
A |
16: 11,185,588 (GRCm39) |
M57K |
probably benign |
Het |
| Stag1 |
T |
G |
9: 100,770,139 (GRCm39) |
I603S |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,097,292 (GRCm39) |
C1417F |
possibly damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,009,714 (GRCm39) |
I392V |
probably benign |
Het |
| Tchh |
T |
C |
3: 93,354,106 (GRCm39) |
L1182P |
unknown |
Het |
| Tle3 |
T |
A |
9: 61,301,915 (GRCm39) |
V108E |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,732,707 (GRCm39) |
|
probably null |
Het |
| Tpr |
T |
G |
1: 150,295,658 (GRCm39) |
L894V |
possibly damaging |
Het |
| Trappc9 |
A |
T |
15: 72,871,874 (GRCm39) |
V472E |
probably damaging |
Het |
| Trim38 |
T |
C |
13: 23,975,081 (GRCm39) |
V340A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r12 |
T |
A |
6: 57,136,494 (GRCm39) |
I197N |
possibly damaging |
Het |
| Vmn1r26 |
T |
C |
6: 57,986,111 (GRCm39) |
Y26C |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,358,177 (GRCm39) |
I83V |
probably null |
Het |
| Xirp1 |
C |
T |
9: 119,847,657 (GRCm39) |
E409K |
probably benign |
Het |
| Zc3h14 |
T |
G |
12: 98,730,181 (GRCm39) |
I46R |
probably damaging |
Het |
| Zfp976 |
A |
G |
7: 42,263,265 (GRCm39) |
C191R |
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 |
|
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'- CACCGGAAGTCAAGGCATTAC -3'
(R):5'- CAGACTGCATGTTAAACATCTCCTG -3'
Sequencing Primer
(F):5'- CCGGAAGTCAAGGCATTACTTTTAAC -3'
(R):5'- TGAGACCAGCTGACTGTATCG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation