Incidental Mutation 'IGL01638:Akap7'
| ID |
93135 |
| 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 # |
IGL01638
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
25044988-25175115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25143323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 124
(I124F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041984]
[ENSMUST00000176258]
|
| AlphaFold |
Q7TN79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041984
AA Change: I124F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043624
Gene: ENSMUSG00000039166
AA Change: I124F
| 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 |
noncoding transcript
Transcript: ENSMUST00000158399
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176258
AA Change: I124F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135037
Gene: ENSMUSG00000039166
AA Change: I124F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
48 |
N/A |
INTRINSIC |
|
Pfam:AKAP7_NLS
|
51 |
142 |
5.3e-24 |
PFAM |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,849,409 (GRCm39) |
T436A |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,598,832 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
A |
G |
4: 153,516,693 (GRCm39) |
V216A |
possibly damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,715,865 (GRCm39) |
V1385M |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,225,138 (GRCm39) |
K65E |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,028,460 (GRCm39) |
N2377D |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,298,456 (GRCm39) |
F1260S |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,224,958 (GRCm39) |
C954S |
probably damaging |
Het |
| Fcmr |
A |
T |
1: 130,802,859 (GRCm39) |
E157D |
probably benign |
Het |
| Gm4204 |
A |
T |
1: 135,160,873 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
T |
14: 56,406,476 (GRCm39) |
D16E |
probably benign |
Het |
| Krt86 |
A |
C |
15: 101,373,353 (GRCm39) |
|
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
| Ms4a6d |
A |
T |
19: 11,564,532 (GRCm39) |
L113Q |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 48,889,843 (GRCm39) |
S145P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,724 (GRCm39) |
K518E |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,816 (GRCm39) |
S87P |
probably benign |
Het |
| Parp11 |
T |
A |
6: 127,468,492 (GRCm39) |
F181I |
probably benign |
Het |
| Ppil1 |
C |
A |
17: 29,480,766 (GRCm39) |
K52N |
probably benign |
Het |
| Prl5a1 |
T |
A |
13: 28,329,422 (GRCm39) |
C34S |
possibly damaging |
Het |
| Prss55 |
A |
G |
14: 64,314,636 (GRCm39) |
V178A |
probably benign |
Het |
| S100a7a |
A |
G |
3: 90,562,837 (GRCm39) |
D8G |
probably benign |
Het |
| Sh3glb2 |
A |
G |
2: 30,235,862 (GRCm39) |
V310A |
possibly damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,748,920 (GRCm39) |
|
probably null |
Het |
| Slc27a6 |
A |
G |
18: 58,740,885 (GRCm39) |
D482G |
probably damaging |
Het |
| Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
| Specc1l |
T |
A |
10: 75,082,039 (GRCm39) |
Y478* |
probably null |
Het |
| Spryd3 |
A |
G |
15: 102,038,711 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
G |
A |
7: 137,881,805 (GRCm39) |
R295C |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,144,155 (GRCm39) |
I637T |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,666,540 (GRCm39) |
|
probably null |
Het |
| Vmn1r6 |
C |
T |
6: 56,980,177 (GRCm39) |
Q280* |
probably null |
Het |
|
| Other mutations in Akap7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Akap7
|
APN |
10 |
25,047,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-12-09 |
Incidental Mutation