Incidental Mutation 'IGL01701:Akap1'
| ID |
104474 |
| 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 # |
IGL01701
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
88721618-88755412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 88735958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 268
(V268L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018572]
[ENSMUST00000107903]
[ENSMUST00000107904]
[ENSMUST00000143720]
|
| AlphaFold |
O08715 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018572
AA Change: V235L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: V235L
| 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 benign
Transcript: ENSMUST00000107903
AA Change: V235L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: V235L
| 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 benign
Transcript: ENSMUST00000107904
AA Change: V268L
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: V268L
| 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
AA Change: V235L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000122295
Gene: ENSMUSG00000018428
AA Change: V235L
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,254,776 (GRCm39) |
Y36H |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,567,750 (GRCm39) |
D5141G |
possibly damaging |
Het |
| Adk |
G |
A |
14: 21,153,922 (GRCm39) |
E42K |
probably damaging |
Het |
| Arl6ip5 |
A |
G |
6: 97,187,774 (GRCm39) |
|
probably benign |
Het |
| Atrx |
A |
G |
X: 104,874,526 (GRCm39) |
S1945P |
probably damaging |
Het |
| Clec5a |
G |
A |
6: 40,559,160 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,232,741 (GRCm39) |
|
probably benign |
Het |
| Cul3 |
G |
T |
1: 80,255,140 (GRCm39) |
H6Q |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,669,012 (GRCm39) |
|
probably benign |
Het |
| Furin |
C |
A |
7: 80,042,240 (GRCm39) |
V452F |
probably benign |
Het |
| Furin |
T |
A |
7: 80,040,507 (GRCm39) |
D777V |
probably benign |
Het |
| Gm57859 |
T |
C |
11: 113,579,927 (GRCm39) |
F441L |
probably benign |
Het |
| Hmgb4 |
G |
A |
4: 128,154,166 (GRCm39) |
T134I |
probably benign |
Het |
| Ift74 |
A |
T |
4: 94,550,895 (GRCm39) |
E349V |
possibly damaging |
Het |
| Igkv6-23 |
A |
T |
6: 70,237,880 (GRCm39) |
L13Q |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,591,425 (GRCm39) |
Y54F |
probably damaging |
Het |
| Lman1 |
A |
T |
18: 66,127,921 (GRCm39) |
V241E |
possibly damaging |
Het |
| Mat1a |
T |
A |
14: 40,836,772 (GRCm39) |
D167E |
probably benign |
Het |
| Myl6 |
G |
A |
10: 128,327,966 (GRCm39) |
A130V |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,791,877 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
A |
T |
13: 65,347,223 (GRCm39) |
W12R |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,314,669 (GRCm39) |
R276G |
probably benign |
Het |
| Or4f61 |
T |
C |
2: 111,922,851 (GRCm39) |
N65S |
possibly damaging |
Het |
| Or5m13b |
C |
A |
2: 85,754,421 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Pag1 |
C |
T |
3: 9,758,886 (GRCm39) |
E411K |
probably damaging |
Het |
| Prorp |
T |
G |
12: 55,355,660 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,082,339 (GRCm39) |
N1422D |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,759,235 (GRCm39) |
R3345Q |
probably damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,361,280 (GRCm39) |
L85P |
probably damaging |
Het |
| Slc22a17 |
T |
C |
14: 55,144,718 (GRCm39) |
H565R |
probably damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,108 (GRCm39) |
T245A |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,358,665 (GRCm39) |
H33R |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,847,318 (GRCm39) |
V1260A |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,681,461 (GRCm39) |
F236Y |
probably damaging |
Het |
| Trim30b |
A |
C |
7: 104,015,258 (GRCm39) |
Y43* |
probably null |
Het |
| Trpc3 |
T |
C |
3: 36,725,743 (GRCm39) |
K78E |
possibly damaging |
Het |
| Twist2 |
A |
T |
1: 91,729,736 (GRCm39) |
M130L |
probably benign |
Het |
| Ube2q2l |
T |
A |
6: 136,377,804 (GRCm39) |
Y342F |
probably damaging |
Het |
|
| Other mutations in Akap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01299:Akap1
|
APN |
11 |
88,735,080 (GRCm39) |
splice site |
probably null |
|
|
IGL01333:Akap1
|
APN |
11 |
88,736,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-01-21 |
Incidental Mutation