Incidental Mutation 'R6701:Akap12'
| ID |
528757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap12
|
| Ensembl Gene |
ENSMUSG00000038587 |
| Gene Name |
A kinase anchor protein 12 |
| Synonyms |
Tsga12, Srcs5, SSeCKS |
| MMRRC Submission |
044819-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R6701 (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 T
at 4305243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 684
(K684N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045730]
[ENSMUST00000215696]
|
| AlphaFold |
Q9WTQ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045730
AA Change: K789N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: K789N
| 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 damaging
Transcript: ENSMUST00000215696
AA Change: K684N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216139
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 96.0%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
C |
T |
4: 63,313,517 (GRCm39) |
G202D |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,522,985 (GRCm39) |
D19V |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,134,286 (GRCm39) |
K1196I |
probably damaging |
Het |
| Asic3 |
A |
T |
5: 24,619,127 (GRCm39) |
M140L |
possibly damaging |
Het |
| Bfsp2 |
C |
T |
9: 103,357,077 (GRCm39) |
V117M |
possibly damaging |
Het |
| Bltp3a |
T |
A |
17: 28,106,331 (GRCm39) |
C952* |
probably null |
Het |
| Cd244a |
C |
A |
1: 171,401,723 (GRCm39) |
L150M |
possibly damaging |
Het |
| Cd3e |
T |
C |
9: 44,912,351 (GRCm39) |
Y131C |
probably damaging |
Het |
| Clptm1l |
T |
C |
13: 73,757,025 (GRCm39) |
I202T |
probably benign |
Het |
| Cnot4 |
G |
T |
6: 35,045,539 (GRCm39) |
T224K |
probably damaging |
Het |
| Col24a1 |
A |
G |
3: 145,020,141 (GRCm39) |
T171A |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,720,184 (GRCm39) |
R1552Q |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,942,191 (GRCm39) |
T309S |
probably benign |
Het |
| Ddx21 |
T |
C |
10: 62,426,470 (GRCm39) |
Y461C |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,837,223 (GRCm39) |
V989M |
probably benign |
Het |
| Dppa4 |
A |
T |
16: 48,111,674 (GRCm39) |
K220* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,089,172 (GRCm39) |
G912S |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,706,091 (GRCm39) |
N815K |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,735,748 (GRCm39) |
L1139F |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,103,087 (GRCm39) |
I78S |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,403,718 (GRCm39) |
S156R |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,799,412 (GRCm39) |
|
probably null |
Het |
| Frzb |
G |
A |
2: 80,277,163 (GRCm39) |
R8W |
possibly damaging |
Het |
| Guf1 |
T |
A |
5: 69,715,596 (GRCm39) |
D47E |
probably damaging |
Het |
| Haus3 |
A |
T |
5: 34,325,078 (GRCm39) |
F194I |
probably damaging |
Het |
| Hivep3 |
C |
T |
4: 119,951,737 (GRCm39) |
R18W |
probably damaging |
Het |
| Hnf1b |
A |
G |
11: 83,779,920 (GRCm39) |
T392A |
probably damaging |
Het |
| Hsd17b1 |
C |
A |
11: 100,970,981 (GRCm39) |
C312* |
probably null |
Het |
| Ighg2b |
T |
C |
12: 113,270,699 (GRCm39) |
T144A |
unknown |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Irag2 |
G |
T |
6: 145,090,702 (GRCm39) |
E61* |
probably null |
Het |
| Jhy |
T |
C |
9: 40,828,887 (GRCm39) |
R340G |
probably damaging |
Het |
| Klra3 |
C |
G |
6: 130,307,216 (GRCm39) |
V144L |
probably benign |
Het |
| Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
| Lrrc4 |
A |
G |
6: 28,830,905 (GRCm39) |
F237L |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,856,070 (GRCm39) |
C2464S |
probably benign |
Het |
| Maml1 |
T |
C |
11: 50,157,509 (GRCm39) |
E222G |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,489,447 (GRCm39) |
|
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,296,444 (GRCm39) |
I69V |
probably null |
Het |
| Neb |
T |
C |
2: 52,181,220 (GRCm39) |
K1129R |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,041,113 (GRCm39) |
N159K |
probably benign |
Het |
| Nup153 |
A |
T |
13: 46,840,541 (GRCm39) |
N1022K |
probably benign |
Het |
| Or1e29 |
T |
C |
11: 73,667,296 (GRCm39) |
N286D |
probably damaging |
Het |
| Or5g9 |
A |
G |
2: 85,552,675 (GRCm39) |
K309E |
probably benign |
Het |
| Or5w15 |
C |
T |
2: 87,567,753 (GRCm39) |
R305K |
probably benign |
Het |
| Otof |
T |
A |
5: 30,528,141 (GRCm39) |
K1901* |
probably null |
Het |
| Pde1c |
A |
T |
6: 56,158,685 (GRCm39) |
Y136N |
probably damaging |
Het |
| Phc1 |
G |
T |
6: 122,302,733 (GRCm39) |
N263K |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,296,430 (GRCm39) |
D1871E |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,669,751 (GRCm39) |
M123K |
possibly damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,425,066 (GRCm39) |
D430G |
probably damaging |
Het |
| Rsl24d1 |
C |
A |
9: 73,022,279 (GRCm39) |
T287K |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,168,304 (GRCm39) |
R101W |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,937,977 (GRCm39) |
D1741G |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,080,924 (GRCm39) |
Q53R |
probably benign |
Het |
| Serpinf2 |
C |
T |
11: 75,323,269 (GRCm39) |
R479H |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,856,860 (GRCm39) |
D448V |
probably damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,712,947 (GRCm39) |
D256E |
probably benign |
Het |
| Slc30a8 |
A |
G |
15: 52,194,970 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,490,347 (GRCm39) |
V103A |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,232,149 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
T |
C |
7: 35,159,274 (GRCm39) |
L327P |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,142,133 (GRCm39) |
Y660C |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,199,388 (GRCm39) |
T519A |
possibly damaging |
Het |
| Tonsl |
A |
T |
15: 76,513,500 (GRCm39) |
S1245T |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,619,162 (GRCm39) |
S16072R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,739,590 (GRCm39) |
Y3650N |
probably benign |
Het |
| Uso1 |
T |
C |
5: 92,314,444 (GRCm39) |
F117S |
probably damaging |
Het |
| Vmn1r211 |
T |
C |
13: 23,035,779 (GRCm39) |
H296R |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,802,023 (GRCm39) |
P93S |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,346,569 (GRCm39) |
I2937F |
possibly damaging |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,446 (GRCm39) |
|
probably null |
Het |
| Zfp12 |
T |
C |
5: 143,230,219 (GRCm39) |
V182A |
probably benign |
Het |
| Zfp473 |
G |
T |
7: 44,382,218 (GRCm39) |
A705D |
possibly damaging |
Het |
| Zfp937 |
G |
T |
2: 150,081,136 (GRCm39) |
G389C |
probably damaging |
Het |
| Zfp990 |
A |
G |
4: 145,264,748 (GRCm39) |
D582G |
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 |
|
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 |
|
|
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'- AGCTGGAAGCCCTTCTGAAG -3'
(R):5'- GTCTTACTAAGCTCCTCAGACAC -3'
Sequencing Primer
(F):5'- CTTCTGAAGGGGAGGGCGTC -3'
(R):5'- AGCTCCACGTTCTCCTGAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation