Incidental Mutation 'IGL00264:Akap7'
| ID |
4749 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akap7
|
| Ensembl Gene |
ENSMUSG00000039166 |
| Gene Name |
A kinase anchor protein 7 |
| Synonyms |
AKAP15, Akap18 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
25044988-25175115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25047138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 20
(D20N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041984]
[ENSMUST00000100012]
|
| AlphaFold |
Q7TN79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041984
AA Change: D253N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043624
Gene: ENSMUSG00000039166
AA Change: D253N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
48 |
N/A |
INTRINSIC |
|
Pfam:AKAP7_NLS
|
51 |
249 |
2.1e-52 |
PFAM |
|
Pfam:AKAP7_RIRII_bdg
|
255 |
312 |
1.9e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100012
AA Change: D20N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097590
Gene: ENSMUSG00000039166
AA Change: D20N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AKAP7_RIRII_bdg
|
21 |
81 |
6.1e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220347
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and show normal cardiomyocyte response to adrenergic stimulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
G |
1: 125,324,966 (GRCm39) |
I319L |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,741,934 (GRCm39) |
S1070T |
probably benign |
Het |
| Arhgef9 |
T |
C |
X: 94,125,237 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
G |
10: 50,590,531 (GRCm39) |
V1083G |
probably damaging |
Het |
| Asns |
T |
A |
6: 7,680,179 (GRCm39) |
E312D |
probably damaging |
Het |
| Bpifc |
A |
C |
10: 85,796,392 (GRCm39) |
V472G |
possibly damaging |
Het |
| Ccdc71 |
T |
A |
9: 108,340,237 (GRCm39) |
S17T |
probably damaging |
Het |
| Cebpzos |
T |
C |
17: 79,225,777 (GRCm39) |
|
probably benign |
Het |
| Cfi |
T |
C |
3: 129,666,744 (GRCm39) |
I489T |
probably damaging |
Het |
| Chrm2 |
T |
A |
6: 36,500,326 (GRCm39) |
F61Y |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,237,863 (GRCm39) |
Y149C |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,720 (GRCm39) |
I246T |
probably benign |
Het |
| Ereg |
C |
A |
5: 91,222,638 (GRCm39) |
S7Y |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,429,022 (GRCm39) |
L349Q |
possibly damaging |
Het |
| Gm10754 |
A |
G |
10: 97,518,274 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,864,475 (GRCm38) |
L29H |
probably benign |
Het |
| Hexim2 |
A |
G |
11: 103,029,281 (GRCm39) |
E111G |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,128,899 (GRCm39) |
N586K |
possibly damaging |
Het |
| Kat6b |
A |
G |
14: 21,718,627 (GRCm39) |
D1102G |
probably benign |
Het |
| Kif27 |
A |
T |
13: 58,485,418 (GRCm39) |
M514K |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,428,616 (GRCm39) |
I660T |
probably damaging |
Het |
| Mki67 |
C |
A |
7: 135,309,549 (GRCm39) |
G301* |
probably null |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or1l4b |
T |
C |
2: 37,037,079 (GRCm39) |
F285S |
probably damaging |
Het |
| Or5b121 |
A |
C |
19: 13,507,214 (GRCm39) |
Y103S |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,976,683 (GRCm39) |
Y111C |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,488,526 (GRCm39) |
H68L |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,354,425 (GRCm39) |
V272A |
possibly damaging |
Het |
| Pstpip2 |
T |
C |
18: 77,959,259 (GRCm39) |
|
probably benign |
Het |
| Rdh14 |
G |
T |
12: 10,441,134 (GRCm39) |
G99W |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,312,276 (GRCm39) |
V172A |
probably benign |
Het |
| Sra1 |
A |
T |
18: 36,801,792 (GRCm39) |
S99R |
probably benign |
Het |
| Tbrg1 |
G |
T |
9: 37,562,337 (GRCm39) |
N280K |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,708,285 (GRCm39) |
|
probably null |
Het |
| Usp40 |
A |
T |
1: 87,931,960 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,646 (GRCm39) |
Y108F |
probably damaging |
Het |
| Zfp521 |
A |
G |
18: 13,979,559 (GRCm39) |
Y285H |
probably benign |
Het |
|
| Other mutations in Akap7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01638:Akap7
|
APN |
10 |
25,143,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01920:Akap7
|
APN |
10 |
25,165,501 (GRCm39) |
nonsense |
probably null |
|
|
IGL03145:Akap7
|
APN |
10 |
25,115,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU05:Akap7
|
UTSW |
10 |
25,147,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Akap7
|
UTSW |
10 |
25,147,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1412:Akap7
|
UTSW |
10 |
25,165,495 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1791:Akap7
|
UTSW |
10 |
25,115,583 (GRCm39) |
missense |
probably benign |
|
|
R2158:Akap7
|
UTSW |
10 |
25,047,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Akap7
|
UTSW |
10 |
25,155,640 (GRCm39) |
unclassified |
probably benign |
|
|
R5533:Akap7
|
UTSW |
10 |
25,159,880 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6222:Akap7
|
UTSW |
10 |
25,159,844 (GRCm39) |
nonsense |
probably null |
|
|
R7195:Akap7
|
UTSW |
10 |
25,147,405 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7261:Akap7
|
UTSW |
10 |
25,147,416 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7343:Akap7
|
UTSW |
10 |
25,165,567 (GRCm39) |
start gained |
probably benign |
|
|
R7785:Akap7
|
UTSW |
10 |
25,096,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8258:Akap7
|
UTSW |
10 |
25,047,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8259:Akap7
|
UTSW |
10 |
25,047,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Akap7
|
UTSW |
10 |
25,155,676 (GRCm39) |
missense |
unknown |
|
|
R9154:Akap7
|
UTSW |
10 |
25,047,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation