Incidental Mutation 'IGL01920:Akap1'
| ID |
180074 |
| 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 # |
IGL01920
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
88721618-88755412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88730459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 643
(H643R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018572]
[ENSMUST00000107903]
[ENSMUST00000107904]
[ENSMUST00000143720]
|
| AlphaFold |
O08715 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018572
AA Change: H610R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: H610R
| 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 damaging
Transcript: ENSMUST00000107903
AA Change: H610R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: H610R
| 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 damaging
Transcript: ENSMUST00000107904
AA Change: H643R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: H643R
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
C |
T |
8: 111,769,878 (GRCm39) |
R326W |
probably damaging |
Het |
| Acad11 |
T |
C |
9: 103,941,104 (GRCm39) |
|
probably null |
Het |
| Acat2 |
A |
G |
17: 13,162,912 (GRCm39) |
I312T |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,613,143 (GRCm39) |
V192A |
probably damaging |
Het |
| Akap7 |
A |
T |
10: 25,165,501 (GRCm39) |
C85* |
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,642,636 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
G |
A |
7: 144,165,191 (GRCm39) |
|
probably benign |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,262 (GRCm39) |
L161P |
probably damaging |
Het |
| Dvl2 |
A |
G |
11: 69,898,873 (GRCm39) |
H420R |
probably benign |
Het |
| Fam135b |
G |
T |
15: 71,493,885 (GRCm39) |
H15N |
possibly damaging |
Het |
| Foxj1 |
G |
T |
11: 116,222,746 (GRCm39) |
H352Q |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,829,337 (GRCm39) |
I969M |
probably damaging |
Het |
| Kcnh3 |
C |
A |
15: 99,131,258 (GRCm39) |
P544T |
probably benign |
Het |
| Or7g35 |
A |
C |
9: 19,496,318 (GRCm39) |
M162L |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,240,362 (GRCm39) |
L1224P |
probably damaging |
Het |
| Prss2 |
A |
G |
6: 41,501,477 (GRCm39) |
N182S |
possibly damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,421,471 (GRCm39) |
W594R |
probably damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,484,778 (GRCm39) |
A261T |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Vcan |
C |
T |
13: 89,837,324 (GRCm39) |
G2740E |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa7 |
G |
A |
17: 35,243,579 (GRCm39) |
V729I |
probably benign |
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 |
|
IGL01701:Akap1
|
APN |
11 |
88,735,958 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
2014-05-07 |
Incidental Mutation