Incidental Mutation 'IGL01299:Akap1'
ID |
75216 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Akap1
|
Ensembl Gene |
ENSMUSG00000018428 |
Gene Name |
A kinase anchor protein 1 |
Synonyms |
DAKAP1, S-AKAP84, AKAP84, AKAP121 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01299
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
88721618-88755412 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 88735080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103537
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018572]
[ENSMUST00000107903]
[ENSMUST00000107904]
[ENSMUST00000143720]
|
AlphaFold |
O08715 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018572
|
SMART Domains |
Protein: ENSMUSP00000018572 Gene: ENSMUSG00000018428
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
low complexity region
|
449 |
462 |
N/A |
INTRINSIC |
KH
|
560 |
630 |
1.59e-10 |
SMART |
low complexity region
|
639 |
651 |
N/A |
INTRINSIC |
TUDOR
|
710 |
769 |
5.32e-12 |
SMART |
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107903
|
SMART Domains |
Protein: ENSMUSP00000103536 Gene: ENSMUSG00000018428
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
low complexity region
|
449 |
462 |
N/A |
INTRINSIC |
KH
|
560 |
630 |
1.59e-10 |
SMART |
low complexity region
|
639 |
651 |
N/A |
INTRINSIC |
TUDOR
|
710 |
769 |
5.32e-12 |
SMART |
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107904
|
SMART Domains |
Protein: ENSMUSP00000103537 Gene: ENSMUSG00000018428
Domain | Start | End | E-Value | Type |
transmembrane domain
|
40 |
59 |
N/A |
INTRINSIC |
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
low complexity region
|
482 |
495 |
N/A |
INTRINSIC |
KH
|
593 |
663 |
1.59e-10 |
SMART |
low complexity region
|
672 |
684 |
N/A |
INTRINSIC |
TUDOR
|
743 |
802 |
5.32e-12 |
SMART |
low complexity region
|
811 |
823 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143720
|
SMART Domains |
Protein: ENSMUSP00000122295 Gene: ENSMUSG00000018428
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
Pfam:RII_binding_1
|
305 |
322 |
5.5e-5 |
PFAM |
low complexity region
|
449 |
462 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153787
|
SMART Domains |
Protein: ENSMUSP00000123018 Gene: ENSMUSG00000018428
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153961
|
Coding Region Coverage |
|
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 binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mutants exhibit reduced female fertility and impaired oocyte maturation. [provided by MGI curators]
|
Allele List at MGI |
All alleles(49) : Targeted(3) Gene trapped(46)
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,248,743 (GRCm39) |
T2830I |
probably benign |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Cdk12 |
C |
T |
11: 98,101,272 (GRCm39) |
R377C |
unknown |
Het |
Cox6b1 |
G |
A |
7: 30,316,553 (GRCm39) |
T81I |
possibly damaging |
Het |
Creb1 |
T |
C |
1: 64,609,284 (GRCm39) |
|
probably benign |
Het |
Cyp4f40 |
G |
T |
17: 32,886,948 (GRCm39) |
A140S |
probably benign |
Het |
Dus4l |
A |
G |
12: 31,690,823 (GRCm39) |
M276T |
probably benign |
Het |
Dync1h1 |
G |
T |
12: 110,580,541 (GRCm39) |
R134L |
probably benign |
Het |
Fmo2 |
A |
T |
1: 162,705,599 (GRCm39) |
N413K |
probably benign |
Het |
Gabrp |
T |
C |
11: 33,504,476 (GRCm39) |
T280A |
probably damaging |
Het |
Golph3l |
A |
G |
3: 95,524,588 (GRCm39) |
T217A |
possibly damaging |
Het |
Mtr |
T |
C |
13: 12,240,536 (GRCm39) |
|
probably benign |
Het |
Nbea |
T |
G |
3: 55,598,315 (GRCm39) |
D2398A |
probably damaging |
Het |
Or3a4 |
T |
A |
11: 73,945,301 (GRCm39) |
I95F |
probably benign |
Het |
Phyh |
T |
A |
2: 4,935,604 (GRCm39) |
W193R |
probably null |
Het |
Rab36 |
A |
G |
10: 74,884,298 (GRCm39) |
Q82R |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,328,639 (GRCm39) |
V2846A |
probably damaging |
Het |
Rprd2 |
G |
A |
3: 95,683,859 (GRCm39) |
S374L |
probably damaging |
Het |
Slc9a3 |
A |
G |
13: 74,308,382 (GRCm39) |
R462G |
probably benign |
Het |
Slitrk3 |
T |
C |
3: 72,956,349 (GRCm39) |
N808D |
probably benign |
Het |
Tbck |
A |
T |
3: 132,430,638 (GRCm39) |
I345F |
probably damaging |
Het |
Tor2a |
T |
A |
2: 32,649,558 (GRCm39) |
V146D |
probably damaging |
Het |
Trpc6 |
C |
A |
9: 8,653,062 (GRCm39) |
Q623K |
probably damaging |
Het |
Ube2q1 |
A |
G |
3: 89,688,681 (GRCm39) |
S192G |
probably damaging |
Het |
Vnn1 |
T |
A |
10: 23,770,949 (GRCm39) |
L59Q |
probably damaging |
Het |
|
Other mutations in Akap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01333:Akap1
|
APN |
11 |
88,736,431 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01701:Akap1
|
APN |
11 |
88,735,958 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01920:Akap1
|
APN |
11 |
88,730,459 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02980:Akap1
|
UTSW |
11 |
88,735,990 (GRCm39) |
missense |
probably benign |
|
PIT4305001:Akap1
|
UTSW |
11 |
88,735,204 (GRCm39) |
missense |
probably benign |
|
R0049:Akap1
|
UTSW |
11 |
88,730,450 (GRCm39) |
critical splice donor site |
probably null |
|
R0049:Akap1
|
UTSW |
11 |
88,730,450 (GRCm39) |
critical splice donor site |
probably null |
|
R0278:Akap1
|
UTSW |
11 |
88,736,020 (GRCm39) |
missense |
probably benign |
0.19 |
R1437:Akap1
|
UTSW |
11 |
88,735,577 (GRCm39) |
nonsense |
probably null |
|
R1438:Akap1
|
UTSW |
11 |
88,735,577 (GRCm39) |
nonsense |
probably null |
|
R1439:Akap1
|
UTSW |
11 |
88,735,577 (GRCm39) |
nonsense |
probably null |
|
R1569:Akap1
|
UTSW |
11 |
88,724,006 (GRCm39) |
missense |
probably benign |
0.02 |
R1611:Akap1
|
UTSW |
11 |
88,736,104 (GRCm39) |
missense |
probably benign |
0.27 |
R1757:Akap1
|
UTSW |
11 |
88,736,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R2328:Akap1
|
UTSW |
11 |
88,735,870 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2897:Akap1
|
UTSW |
11 |
88,735,605 (GRCm39) |
nonsense |
probably null |
|
R3730:Akap1
|
UTSW |
11 |
88,736,008 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4868:Akap1
|
UTSW |
11 |
88,735,379 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5620:Akap1
|
UTSW |
11 |
88,736,343 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5645:Akap1
|
UTSW |
11 |
88,736,453 (GRCm39) |
missense |
probably benign |
0.01 |
R5886:Akap1
|
UTSW |
11 |
88,725,486 (GRCm39) |
critical splice donor site |
probably null |
|
R5932:Akap1
|
UTSW |
11 |
88,722,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R6284:Akap1
|
UTSW |
11 |
88,735,394 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6555:Akap1
|
UTSW |
11 |
88,735,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R7234:Akap1
|
UTSW |
11 |
88,729,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R7436:Akap1
|
UTSW |
11 |
88,736,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R7759:Akap1
|
UTSW |
11 |
88,736,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R8356:Akap1
|
UTSW |
11 |
88,725,557 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8456:Akap1
|
UTSW |
11 |
88,725,557 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8796:Akap1
|
UTSW |
11 |
88,730,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R8948:Akap1
|
UTSW |
11 |
88,735,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R9006:Akap1
|
UTSW |
11 |
88,723,996 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9116:Akap1
|
UTSW |
11 |
88,723,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R9174:Akap1
|
UTSW |
11 |
88,725,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R9294:Akap1
|
UTSW |
11 |
88,727,966 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Akap1
|
UTSW |
11 |
88,727,993 (GRCm39) |
missense |
probably benign |
0.18 |
|
Posted On |
2013-10-07 |