Incidental Mutation 'ANU23:Akap12'
ID |
262644 |
Institutional Source |
Beutler Lab
|
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: 0.100)
|
Stock # |
ANU23
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 4303273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 28
(A28S)
|
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: A133S
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000035829 Gene: ENSMUSG00000038587 AA Change: A133S
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: A28S
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216139
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 98.2%
- 10x: 96.6%
- 20x: 93.8%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12b |
G |
A |
12: 70,215,822 (GRCm39) |
G88S |
probably damaging |
Het |
Acot10 |
A |
G |
15: 20,666,051 (GRCm39) |
F230S |
probably benign |
Het |
Anks1 |
C |
A |
17: 28,205,227 (GRCm39) |
T262K |
probably damaging |
Het |
Arfgap3 |
A |
G |
15: 83,197,710 (GRCm39) |
Y349H |
possibly damaging |
Het |
Cacna1g |
G |
A |
11: 94,357,054 (GRCm39) |
|
probably benign |
Het |
Camsap2 |
T |
A |
1: 136,225,528 (GRCm39) |
E199D |
probably benign |
Het |
Ccdc13 |
A |
T |
9: 121,656,429 (GRCm39) |
M128K |
probably benign |
Het |
Ccdc38 |
T |
C |
10: 93,405,797 (GRCm39) |
|
probably null |
Het |
Cep95 |
G |
A |
11: 106,704,641 (GRCm39) |
V499I |
probably benign |
Het |
Cpne6 |
G |
C |
14: 55,749,459 (GRCm39) |
M6I |
probably benign |
Het |
Cpne6 |
A |
T |
14: 55,752,706 (GRCm39) |
I299F |
probably damaging |
Het |
Cse1l |
T |
A |
2: 166,769,428 (GRCm39) |
Y278* |
probably null |
Het |
Dip2c |
A |
G |
13: 9,625,179 (GRCm39) |
N558D |
possibly damaging |
Het |
Edar |
A |
T |
10: 58,464,460 (GRCm39) |
C60S |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,201,698 (GRCm39) |
N459D |
probably benign |
Het |
Fbxw8 |
C |
T |
5: 118,251,785 (GRCm39) |
V243M |
possibly damaging |
Het |
Fem1b |
G |
A |
9: 62,704,810 (GRCm39) |
A150V |
possibly damaging |
Het |
Gm5422 |
A |
T |
10: 31,125,432 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch3 |
CAGGAGGAGGAGGAGGAG |
CAGGAGGAGGAGGAG |
4: 133,305,613 (GRCm39) |
|
probably benign |
Het |
Grin2c |
T |
C |
11: 115,147,020 (GRCm39) |
T392A |
probably benign |
Het |
Idh3a |
T |
A |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
Itpk1 |
T |
C |
12: 102,572,362 (GRCm39) |
E117G |
probably damaging |
Het |
Kif12 |
G |
T |
4: 63,084,121 (GRCm39) |
P627Q |
probably damaging |
Het |
Krtap15-1 |
T |
A |
16: 88,626,255 (GRCm39) |
F88L |
probably benign |
Het |
Mcm7 |
C |
T |
5: 138,168,653 (GRCm39) |
V13I |
probably benign |
Het |
Mlh1 |
T |
C |
9: 111,081,980 (GRCm39) |
N248D |
possibly damaging |
Het |
Or2i1 |
T |
C |
17: 37,507,833 (GRCm39) |
N342S |
probably benign |
Het |
Or4k15 |
A |
G |
14: 50,364,039 (GRCm39) |
N2D |
probably benign |
Het |
Or52z12 |
T |
C |
7: 103,233,900 (GRCm39) |
Y224H |
probably damaging |
Het |
Per2 |
T |
C |
1: 91,376,555 (GRCm39) |
H106R |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,827,229 (GRCm39) |
T486S |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,485,595 (GRCm39) |
V474A |
possibly damaging |
Het |
Scamp4 |
C |
A |
10: 80,445,256 (GRCm39) |
Q34K |
probably damaging |
Het |
Serpinb3b |
A |
G |
1: 107,082,395 (GRCm39) |
Y290H |
probably damaging |
Het |
Sft2d2 |
G |
T |
1: 165,011,564 (GRCm39) |
A110E |
probably benign |
Het |
Siglecf |
T |
A |
7: 43,001,377 (GRCm39) |
L115* |
probably null |
Het |
Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
Slco1a1 |
T |
A |
6: 141,892,313 (GRCm39) |
K18* |
probably null |
Het |
Spata1 |
A |
T |
3: 146,193,154 (GRCm39) |
Y112* |
probably null |
Het |
Tbc1d32 |
G |
A |
10: 56,056,620 (GRCm39) |
T440I |
probably benign |
Het |
Vmn1r159 |
A |
G |
7: 22,542,588 (GRCm39) |
V148A |
probably damaging |
Het |
Wnt16 |
C |
T |
6: 22,297,934 (GRCm39) |
R267C |
probably damaging |
Het |
Xylt1 |
A |
C |
7: 117,148,125 (GRCm39) |
S230R |
probably benign |
Het |
Zfp334 |
T |
C |
2: 165,223,017 (GRCm39) |
H342R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAGAGTGTTACGCTTGTTGAACAAAG -3'
(R):5'- TTGACCAGATTCGGCTTGAAGGG -3'
Sequencing Primer
(F):5'- CGCTTGTTGAACAAAGTAATTTTCCC -3'
(R):5'- TGGATGCTGATTCGCCGAC -3'
|
Posted On |
2015-02-04 |