Incidental Mutation 'R8447:Akap12'
ID |
654555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akap12
|
Ensembl Gene |
ENSMUSG00000038587 |
Gene Name |
A kinase anchor protein 12 |
Synonyms |
Tsga12, Srcs5, SSeCKS |
MMRRC Submission |
067902-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R8447 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4306289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1138
(E1138G)
|
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: E1138G
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000035829 Gene: ENSMUSG00000038587 AA Change: E1138G
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: E1033G
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
C |
5: 8,957,278 (GRCm39) |
T136P |
probably damaging |
Het |
Abcc3 |
A |
T |
11: 94,254,886 (GRCm39) |
L639Q |
possibly damaging |
Het |
Adam10 |
T |
A |
9: 70,655,400 (GRCm39) |
N289K |
probably damaging |
Het |
Akr1e1 |
C |
A |
13: 4,648,793 (GRCm39) |
L167F |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,766 (GRCm39) |
K506E |
possibly damaging |
Het |
Castor1 |
T |
C |
11: 4,170,165 (GRCm39) |
V81A |
probably damaging |
Het |
Cfap46 |
C |
A |
7: 139,260,902 (GRCm39) |
R65S |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Clec16a |
C |
A |
16: 10,559,487 (GRCm39) |
T920K |
probably benign |
Het |
Coro2b |
C |
T |
9: 62,333,842 (GRCm39) |
E351K |
probably damaging |
Het |
Diablo |
T |
C |
5: 123,655,829 (GRCm39) |
E163G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,115,757 (GRCm39) |
L1547P |
probably damaging |
Het |
Dynll2 |
G |
T |
11: 87,874,719 (GRCm39) |
D37E |
probably benign |
Het |
Eml4 |
A |
T |
17: 83,755,656 (GRCm39) |
Q408L |
probably damaging |
Het |
F2rl3 |
T |
C |
8: 73,489,963 (GRCm39) |
*397R |
probably null |
Het |
Fance |
T |
A |
17: 28,545,155 (GRCm39) |
L127Q |
unknown |
Het |
Fat4 |
T |
C |
3: 39,033,824 (GRCm39) |
V2492A |
possibly damaging |
Het |
Ggta1 |
C |
T |
2: 35,292,573 (GRCm39) |
D245N |
probably damaging |
Het |
Gli1 |
T |
C |
10: 127,166,106 (GRCm39) |
N1049S |
probably benign |
Het |
Grin2c |
A |
G |
11: 115,148,215 (GRCm39) |
V354A |
probably benign |
Het |
Kank4 |
T |
A |
4: 98,666,729 (GRCm39) |
I573F |
probably damaging |
Het |
Kdm3a |
A |
G |
6: 71,588,881 (GRCm39) |
V376A |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,481,121 (GRCm39) |
V69A |
probably damaging |
Het |
Lcmt1 |
T |
A |
7: 123,020,825 (GRCm39) |
L250Q |
probably damaging |
Het |
Ldhb |
A |
T |
6: 142,444,356 (GRCm39) |
V99D |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,671,688 (GRCm39) |
V904A |
probably benign |
Het |
Lipe |
G |
T |
7: 25,080,017 (GRCm39) |
N710K |
probably damaging |
Het |
Med1 |
C |
A |
11: 98,060,240 (GRCm39) |
D230Y |
probably damaging |
Het |
Mpv17l |
T |
A |
16: 13,758,864 (GRCm39) |
I96K |
probably benign |
Het |
Obox1 |
A |
T |
7: 15,289,541 (GRCm39) |
Q110L |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,008 (GRCm39) |
V84A |
probably benign |
Het |
Or4f4b |
T |
A |
2: 111,314,101 (GRCm39) |
Y137N |
probably damaging |
Het |
Or4k37 |
T |
A |
2: 111,159,307 (GRCm39) |
I181N |
possibly damaging |
Het |
Or5t16 |
T |
A |
2: 86,818,885 (GRCm39) |
I212F |
probably benign |
Het |
Or6c76 |
T |
G |
10: 129,612,371 (GRCm39) |
M211R |
possibly damaging |
Het |
Or9s14 |
C |
A |
1: 92,535,494 (GRCm39) |
|
probably benign |
Het |
Pah |
T |
C |
10: 87,417,827 (GRCm39) |
|
probably null |
Het |
Pate1 |
A |
T |
9: 35,597,631 (GRCm39) |
N40K |
probably benign |
Het |
Pclo |
C |
A |
5: 14,731,423 (GRCm39) |
D182E |
|
Het |
Prl7a2 |
A |
T |
13: 27,849,941 (GRCm39) |
S44T |
possibly damaging |
Het |
Pwp2 |
T |
A |
10: 78,007,873 (GRCm39) |
D894V |
probably benign |
Het |
Ripor2 |
T |
A |
13: 24,907,771 (GRCm39) |
L1014Q |
probably damaging |
Het |
Rpe |
G |
A |
1: 66,740,188 (GRCm39) |
|
probably null |
Het |
Sh2d3c |
A |
G |
2: 32,642,671 (GRCm39) |
T706A |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 24,006,309 (GRCm39) |
F445S |
possibly damaging |
Het |
Spata20 |
C |
A |
11: 94,373,080 (GRCm39) |
L515F |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,737,437 (GRCm39) |
S1338F |
possibly damaging |
Het |
Tm9sf2 |
C |
A |
14: 122,377,180 (GRCm39) |
P236Q |
probably damaging |
Het |
Tmem135 |
T |
C |
7: 88,803,240 (GRCm39) |
Y311C |
probably damaging |
Het |
Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,688,023 (GRCm39) |
C1190F |
possibly damaging |
Het |
Tmem94 |
G |
A |
11: 115,688,696 (GRCm39) |
R1301H |
probably benign |
Het |
Zp3 |
G |
A |
5: 136,013,244 (GRCm39) |
G192E |
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 |
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'- TGCTGGCTACCGAGAAAGAG -3'
(R):5'- AACTAGATGGTGTTGAAGGCC -3'
Sequencing Primer
(F):5'- GAAGCTGAAACTGAGCATCTTGC -3'
(R):5'- ATGGTGTTGAAGGCCCCTCC -3'
|
Posted On |
2020-10-20 |