Incidental Mutation 'R8910:Akap12'
| ID |
678562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap12
|
| Ensembl Gene |
ENSMUSG00000038587 |
| Gene Name |
A kinase anchor protein 12 |
| Synonyms |
Tsga12, Srcs5, SSeCKS |
| MMRRC Submission |
068701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R8910 (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 T
at 4263822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 77
(Q77L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045730]
|
| AlphaFold |
Q9WTQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045730
AA Change: Q77L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: Q77L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,471,768 (GRCm39) |
I1058V |
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,189,030 (GRCm39) |
E809G |
probably damaging |
Het |
| Aldh5a1 |
A |
G |
13: 25,102,599 (GRCm39) |
V288A |
probably damaging |
Het |
| Alox5 |
C |
A |
6: 116,389,510 (GRCm39) |
E586* |
probably null |
Het |
| Anxa2r1 |
T |
A |
13: 120,508,356 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,934,108 (GRCm39) |
F598S |
|
Het |
| Btc |
A |
C |
5: 91,508,671 (GRCm39) |
M157R |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,344,223 (GRCm39) |
N908S |
probably benign |
Het |
| Cd244a |
C |
A |
1: 171,386,941 (GRCm39) |
H17N |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,575,240 (GRCm39) |
L5P |
probably benign |
Het |
| Cep15 |
A |
G |
14: 12,285,444 (GRCm38) |
H10R |
probably benign |
Het |
| Cept1 |
A |
C |
3: 106,446,565 (GRCm39) |
S94A |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,632,497 (GRCm39) |
M507T |
probably benign |
Het |
| Cpne4 |
A |
G |
9: 104,799,706 (GRCm39) |
|
probably benign |
Het |
| Dffb |
T |
C |
4: 154,057,416 (GRCm39) |
D87G |
possibly damaging |
Het |
| Dlgap1 |
C |
T |
17: 71,093,815 (GRCm39) |
T712I |
probably damaging |
Het |
| Dnhd1 |
A |
C |
7: 105,332,904 (GRCm39) |
H155P |
possibly damaging |
Het |
| Dpyd |
A |
G |
3: 118,404,167 (GRCm39) |
K38R |
probably benign |
Het |
| Evx1 |
C |
T |
6: 52,293,746 (GRCm39) |
R305C |
probably damaging |
Het |
| Ezr |
A |
G |
17: 7,023,299 (GRCm39) |
L47P |
probably damaging |
Het |
| Fabp6 |
C |
T |
11: 43,492,335 (GRCm39) |
A2T |
possibly damaging |
Het |
| Fam78a |
G |
A |
2: 31,959,681 (GRCm39) |
T143M |
probably damaging |
Het |
| Fam83h |
C |
T |
15: 75,874,844 (GRCm39) |
G831D |
probably benign |
Het |
| Fermt2 |
G |
A |
14: 45,702,389 (GRCm39) |
A465V |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,715,855 (GRCm39) |
S358P |
probably benign |
Het |
| Frem1 |
C |
A |
4: 82,868,694 (GRCm39) |
G1429V |
probably benign |
Het |
| Fst |
T |
A |
13: 114,590,245 (GRCm39) |
|
probably benign |
Het |
| Gfpt1 |
T |
C |
6: 87,030,787 (GRCm39) |
I57T |
probably benign |
Het |
| Gimap6 |
A |
G |
6: 48,679,388 (GRCm39) |
I216T |
probably damaging |
Het |
| Gm10267 |
T |
A |
18: 44,289,511 (GRCm39) |
N73I |
possibly damaging |
Het |
| H2-M2 |
G |
A |
17: 37,792,413 (GRCm39) |
T286I |
probably damaging |
Het |
| Hgs |
T |
C |
11: 120,369,202 (GRCm39) |
|
probably null |
Het |
| Klra6 |
T |
C |
6: 129,993,647 (GRCm39) |
E208G |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,812,213 (GRCm39) |
T753S |
probably benign |
Het |
| Larp6 |
A |
G |
9: 60,620,526 (GRCm39) |
E13G |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,960,855 (GRCm39) |
I806V |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,468,009 (GRCm39) |
N142S |
possibly damaging |
Het |
| Myo3a |
A |
G |
2: 22,464,280 (GRCm39) |
T1112A |
probably benign |
Het |
| Or4b1b |
C |
A |
2: 90,126,848 (GRCm39) |
R119L |
possibly damaging |
Het |
| Pelp1 |
A |
T |
11: 70,287,461 (GRCm39) |
M449K |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,144,768 (GRCm39) |
V795A |
probably damaging |
Het |
| Ppp4r3b |
G |
T |
11: 29,146,290 (GRCm39) |
M372I |
probably null |
Het |
| Ptprk |
T |
C |
10: 28,368,993 (GRCm39) |
V655A |
possibly damaging |
Het |
| Rad51d |
T |
C |
11: 82,773,793 (GRCm39) |
R166G |
probably damaging |
Het |
| Rbm19 |
T |
A |
5: 120,271,844 (GRCm39) |
Y650N |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,132,741 (GRCm39) |
K204E |
|
Het |
| Ryr1 |
A |
G |
7: 28,771,340 (GRCm39) |
L2567P |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,338,883 (GRCm39) |
S599C |
probably damaging |
Het |
| Slc7a15 |
T |
A |
12: 8,589,117 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,182,716 (GRCm39) |
T12A |
probably benign |
Het |
| Tbc1d10b |
T |
C |
7: 126,806,938 (GRCm39) |
T200A |
probably benign |
Het |
| Tex21 |
C |
T |
12: 76,263,533 (GRCm39) |
|
probably benign |
Het |
| Thap4 |
T |
C |
1: 93,642,666 (GRCm39) |
H515R |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,688,252 (GRCm39) |
Q1237R |
probably damaging |
Het |
| Tppp3 |
A |
G |
8: 106,194,924 (GRCm39) |
V69A |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,151,401 (GRCm39) |
E695G |
possibly damaging |
Het |
| Wtip |
G |
A |
7: 33,832,063 (GRCm39) |
P141L |
possibly damaging |
Het |
| Wwp1 |
A |
T |
4: 19,627,741 (GRCm39) |
M718K |
possibly damaging |
Het |
| Zbtb25 |
A |
C |
12: 76,395,908 (GRCm39) |
V438G |
probably damaging |
Het |
| Zfp444 |
T |
C |
7: 6,187,026 (GRCm39) |
L46P |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,233 (GRCm39) |
H1060R |
probably benign |
Het |
| Zkscan14 |
A |
G |
5: 145,132,190 (GRCm39) |
F447S |
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 |
|
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'- AGTTTATACACCGGAAGTCAAGG -3'
(R):5'- AAACATCTCCTGAGACCAGCTG -3'
Sequencing Primer
(F):5'- CCGGAAGTCAAGGCATTACTTTTAAC -3'
(R):5'- TGAGACCAGCTGACTGTATCG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation