Incidental Mutation 'R1412:Akap7'
ID |
159640 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akap7
|
Ensembl Gene |
ENSMUSG00000039166 |
Gene Name |
A kinase anchor protein 7 |
Synonyms |
AKAP15, Akap18 |
MMRRC Submission |
039468-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1412 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
25044988-25175115 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 25165495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041984]
[ENSMUST00000095779]
[ENSMUST00000176231]
[ENSMUST00000176258]
[ENSMUST00000177124]
|
AlphaFold |
Q7TN79 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041984
|
SMART Domains |
Protein: ENSMUSP00000043624 Gene: ENSMUSG00000039166
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 null
Transcript: ENSMUST00000095779
|
SMART Domains |
Protein: ENSMUSP00000093455 Gene: ENSMUSG00000039166
Domain | Start | End | E-Value | Type |
PDB:3J4R|A
|
1 |
63 |
6e-17 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176231
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176258
|
SMART Domains |
Protein: ENSMUSP00000135037 Gene: ENSMUSG00000039166
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
48 |
N/A |
INTRINSIC |
Pfam:AKAP7_NLS
|
51 |
142 |
5.3e-24 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000177124
|
SMART Domains |
Protein: ENSMUSP00000135137 Gene: ENSMUSG00000039166
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
PDB:3J4R|A
|
37 |
126 |
1e-24 |
PDB |
|
Meta Mutation Damage Score |
0.9489 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.5%
|
Validation Efficiency |
98% (48/49) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
T |
C |
19: 8,867,359 (GRCm39) |
|
probably benign |
Het |
Abca15 |
C |
T |
7: 119,944,546 (GRCm39) |
R394C |
possibly damaging |
Het |
Adamts9 |
T |
C |
6: 92,773,414 (GRCm39) |
Q1152R |
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,243,569 (GRCm39) |
G6277E |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,619,298 (GRCm39) |
N41S |
probably benign |
Het |
Arl6ip1 |
A |
G |
7: 117,719,591 (GRCm39) |
I179T |
possibly damaging |
Het |
Atp1a4 |
C |
T |
1: 172,059,576 (GRCm39) |
D839N |
probably damaging |
Het |
B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
C1qtnf12 |
T |
C |
4: 156,047,190 (GRCm39) |
V52A |
probably benign |
Het |
C1qtnf2 |
A |
G |
11: 43,381,959 (GRCm39) |
Y257C |
probably damaging |
Het |
Cdc123 |
A |
T |
2: 5,808,776 (GRCm39) |
D233E |
possibly damaging |
Het |
Chdh |
G |
A |
14: 29,756,680 (GRCm39) |
E369K |
probably benign |
Het |
D630045J12Rik |
A |
G |
6: 38,172,695 (GRCm39) |
V491A |
probably benign |
Het |
Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
T |
C |
17: 37,365,805 (GRCm39) |
|
probably null |
Het |
Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
Hs3st5 |
A |
T |
10: 36,708,672 (GRCm39) |
H69L |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,235,196 (GRCm39) |
|
probably benign |
Het |
Itga2b |
A |
T |
11: 102,347,831 (GRCm39) |
L890Q |
probably benign |
Het |
Or52e8b |
A |
G |
7: 104,673,402 (GRCm39) |
F262L |
probably damaging |
Het |
Or7d11 |
C |
G |
9: 19,966,711 (GRCm39) |
G16A |
possibly damaging |
Het |
Parp10 |
A |
G |
15: 76,127,284 (GRCm39) |
L51P |
probably damaging |
Het |
Pbld2 |
A |
G |
10: 62,883,301 (GRCm39) |
T108A |
probably damaging |
Het |
Pdlim2 |
A |
T |
14: 70,411,773 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
Pla2g12b |
G |
A |
10: 59,239,804 (GRCm39) |
|
probably null |
Het |
Raly |
A |
G |
2: 154,699,315 (GRCm39) |
T40A |
possibly damaging |
Het |
Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Smim22 |
G |
C |
16: 4,825,649 (GRCm39) |
E11D |
possibly damaging |
Het |
Socs2 |
T |
C |
10: 95,250,780 (GRCm39) |
S18G |
probably benign |
Het |
Srgap2 |
T |
C |
1: 131,228,151 (GRCm39) |
E720G |
possibly damaging |
Het |
Tas2r135 |
A |
G |
6: 42,382,768 (GRCm39) |
I102M |
probably benign |
Het |
Tex19.2 |
A |
G |
11: 121,007,761 (GRCm39) |
V229A |
possibly damaging |
Het |
Vmn1r234 |
T |
A |
17: 21,449,512 (GRCm39) |
I142N |
probably benign |
Het |
Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
Vwa3a |
C |
T |
7: 120,379,377 (GRCm39) |
T494I |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
Zfhx3 |
A |
G |
8: 109,641,199 (GRCm39) |
D1166G |
possibly damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCACTTTGGTAGAGGAGAGAGTCCC -3'
(R):5'- AGTTCACTTAGCCAGGTTGTTTCGG -3'
Sequencing Primer
(F):5'- ACTGAACTGATAATGCCTCTCTGG -3'
(R):5'- CGGTTTTCACATTGGAGTTTAAC -3'
|
Posted On |
2014-03-14 |