Incidental Mutation 'R6991:Akap12'
| ID |
543853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap12
|
| Ensembl Gene |
ENSMUSG00000038587 |
| Gene Name |
A kinase anchor protein 12 |
| Synonyms |
Tsga12, Srcs5, SSeCKS |
| MMRRC Submission |
045097-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R6991 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 4307122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 1311
(E1311*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045730]
[ENSMUST00000215696]
|
| AlphaFold |
Q9WTQ5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045730
AA Change: E1416*
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: E1416*
| 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 null
Transcript: ENSMUST00000215696
AA Change: E1311*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
A |
7: 27,279,871 (GRCm39) |
V278D |
probably damaging |
Het |
| Ankdd1a |
T |
A |
9: 65,415,957 (GRCm39) |
D186V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,869,090 (GRCm39) |
E346G |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,696,508 (GRCm39) |
L995S |
possibly damaging |
Het |
| Ccr7 |
A |
C |
11: 99,036,130 (GRCm39) |
V264G |
probably damaging |
Het |
| Col7a1 |
T |
C |
9: 108,812,987 (GRCm39) |
|
probably null |
Het |
| Coq8a |
T |
C |
1: 180,006,633 (GRCm39) |
T132A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,281,690 (GRCm39) |
E2843G |
unknown |
Het |
| Cyp2b10 |
G |
A |
7: 25,616,780 (GRCm39) |
S407N |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,561 (GRCm39) |
V117A |
probably benign |
Het |
| Ddx42 |
G |
A |
11: 106,129,970 (GRCm39) |
V421I |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,601,896 (GRCm39) |
L285* |
probably null |
Het |
| Dip2c |
C |
T |
13: 9,684,868 (GRCm39) |
S1232F |
probably damaging |
Het |
| Dner |
T |
A |
1: 84,454,123 (GRCm39) |
R402* |
probably null |
Het |
| Dpysl3 |
A |
T |
18: 43,486,956 (GRCm39) |
I317N |
probably damaging |
Het |
| Dusp23 |
T |
A |
1: 172,459,224 (GRCm39) |
Y146F |
probably benign |
Het |
| Eef1a2 |
C |
A |
2: 180,790,421 (GRCm39) |
V412L |
possibly damaging |
Het |
| Epha7 |
C |
T |
4: 28,821,489 (GRCm39) |
T218I |
probably damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,334,858 (GRCm39) |
C284S |
probably damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,784,068 (GRCm39) |
E327V |
probably damaging |
Het |
| Hdhd5 |
A |
G |
6: 120,487,130 (GRCm39) |
V409A |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,323,690 (GRCm39) |
Y236H |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,199,050 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
T |
8: 10,021,098 (GRCm39) |
V894E |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,023,319 (GRCm39) |
N982S |
probably damaging |
Het |
| Mapk8 |
T |
C |
14: 33,132,841 (GRCm39) |
I32V |
possibly damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mstn |
T |
C |
1: 53,101,100 (GRCm39) |
I59T |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,384 (GRCm39) |
E315G |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,803,774 (GRCm39) |
E1515* |
probably null |
Het |
| Npw |
A |
C |
17: 24,877,029 (GRCm39) |
V124G |
probably benign |
Het |
| Nxph3 |
A |
G |
11: 95,402,244 (GRCm39) |
S57P |
probably damaging |
Het |
| Opn4 |
A |
T |
14: 34,315,864 (GRCm39) |
L390M |
probably benign |
Het |
| Or12e10 |
G |
A |
2: 87,640,787 (GRCm39) |
D208N |
possibly damaging |
Het |
| Or52e4 |
T |
C |
7: 104,705,771 (GRCm39) |
I106T |
probably damaging |
Het |
| Or5b95 |
G |
T |
19: 12,658,112 (GRCm39) |
L213F |
probably benign |
Het |
| Or5g23 |
T |
C |
2: 85,438,592 (GRCm39) |
I221V |
possibly damaging |
Het |
| Or5p68 |
T |
A |
7: 107,945,295 (GRCm39) |
N298Y |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pla2g2e |
G |
A |
4: 138,607,986 (GRCm39) |
C62Y |
probably damaging |
Het |
| Plcb4 |
G |
A |
2: 135,752,114 (GRCm39) |
V107M |
probably damaging |
Het |
| Pramel33 |
T |
A |
5: 93,632,233 (GRCm39) |
N107I |
probably damaging |
Het |
| Prorsd1 |
A |
C |
11: 29,464,486 (GRCm39) |
|
probably benign |
Het |
| Prox2 |
A |
G |
12: 85,134,165 (GRCm39) |
L587P |
probably benign |
Het |
| Prr22 |
A |
G |
17: 57,078,345 (GRCm39) |
D166G |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,002,686 (GRCm39) |
R1592Q |
probably benign |
Het |
| Rarg |
C |
G |
15: 102,150,350 (GRCm39) |
R74P |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,194,251 (GRCm39) |
V54A |
probably benign |
Het |
| Rmdn2 |
A |
G |
17: 79,928,739 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Serpina1a |
T |
C |
12: 103,820,092 (GRCm39) |
T385A |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,325,814 (GRCm39) |
Y12C |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,767,091 (GRCm39) |
|
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,808,415 (GRCm39) |
*437W |
probably null |
Het |
| Sugct |
T |
A |
13: 17,728,965 (GRCm39) |
Q220H |
probably benign |
Het |
| Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
| Tnks |
C |
A |
8: 35,301,647 (GRCm39) |
R1274I |
probably damaging |
Het |
| Trp53bp1 |
C |
T |
2: 121,038,521 (GRCm39) |
R1439H |
probably damaging |
Het |
| Vmn1r16 |
G |
T |
6: 57,299,869 (GRCm39) |
S251* |
probably null |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,180 (GRCm39) |
Q226L |
probably damaging |
Het |
| Vmn2r67 |
T |
G |
7: 84,804,953 (GRCm39) |
Y53S |
possibly damaging |
Het |
| Vmn2r99 |
A |
G |
17: 19,598,372 (GRCm39) |
N132S |
probably benign |
Het |
| Wdr73 |
T |
G |
7: 80,541,604 (GRCm39) |
T313P |
probably benign |
Het |
| Zfp65 |
C |
T |
13: 67,856,640 (GRCm39) |
R213Q |
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 |
|
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'- ACAGCTGACATGCCTCACTC -3'
(R):5'- AGCATCAGGACCAGCATCTG -3'
Sequencing Primer
(F):5'- AGGAAGCCCTTCTCTCCCAG -3'
(R):5'- GCATCTGGCTTGTTATCTTCATCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation