Incidental Mutation 'R8356:Akap1'
| ID |
645788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap1
|
| Ensembl Gene |
ENSMUSG00000018428 |
| Gene Name |
A kinase anchor protein 1 |
| Synonyms |
DAKAP1, S-AKAP84, AKAP84, AKAP121 |
| MMRRC Submission |
067870-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
88721618-88755412 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 88725557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103536
(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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,842,360 (GRCm39) |
E1098G |
probably benign |
Het |
| Arhgap26 |
T |
C |
18: 39,244,901 (GRCm39) |
V182A |
possibly damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,977,926 (GRCm39) |
K545R |
probably benign |
Het |
| Asph |
C |
T |
4: 9,537,722 (GRCm39) |
R352Q |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,650,254 (GRCm39) |
I119N |
probably damaging |
Het |
| Bltp3b |
A |
G |
10: 89,647,954 (GRCm39) |
T1339A |
probably benign |
Het |
| Camsap3 |
C |
T |
8: 3,650,679 (GRCm39) |
R236* |
probably null |
Het |
| Ccser2 |
A |
T |
14: 36,612,331 (GRCm39) |
M792K |
probably benign |
Het |
| Ceacam5 |
C |
T |
7: 17,479,624 (GRCm39) |
T247I |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 66,047,764 (GRCm39) |
S19P |
probably damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,000,451 (GRCm39) |
E129G |
probably damaging |
Het |
| Ebf3 |
T |
A |
7: 136,800,916 (GRCm39) |
M490L |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,110,789 (GRCm39) |
L1008S |
probably damaging |
Het |
| Ereg |
C |
T |
5: 91,237,993 (GRCm39) |
P160S |
possibly damaging |
Het |
| Exoc6b |
ATTT |
ATTTT |
6: 84,821,077 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,195,385 (GRCm39) |
T362A |
unknown |
Het |
| Gm14326 |
A |
T |
2: 177,590,312 (GRCm39) |
D16E |
probably benign |
Het |
| H1f8 |
A |
T |
6: 115,925,745 (GRCm39) |
M181L |
probably benign |
Het |
| H3c1 |
A |
T |
13: 23,946,083 (GRCm39) |
F85Y |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,575,548 (GRCm39) |
T190S |
probably benign |
Het |
| Lama1 |
T |
G |
17: 68,044,491 (GRCm39) |
I130S |
|
Het |
| Letm2 |
T |
C |
8: 26,071,729 (GRCm39) |
D391G |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,780,892 (GRCm39) |
I423V |
probably damaging |
Het |
| Melk |
T |
A |
4: 44,312,191 (GRCm39) |
C168S |
possibly damaging |
Het |
| Muc4 |
CAC |
CACTAC |
16: 32,575,367 (GRCm39) |
|
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,596,915 (GRCm39) |
N356K |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,929,372 (GRCm39) |
N1873S |
probably benign |
Het |
| Or2y1f |
C |
T |
11: 49,184,385 (GRCm39) |
P79L |
probably damaging |
Het |
| Or8b41 |
T |
A |
9: 38,054,981 (GRCm39) |
C178* |
probably null |
Het |
| Pom121 |
A |
G |
5: 135,410,032 (GRCm39) |
F1042L |
unknown |
Het |
| Pramel51 |
T |
A |
12: 88,143,986 (GRCm39) |
T284S |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,061,889 (GRCm39) |
S1334P |
probably damaging |
Het |
| Ranbp1 |
C |
T |
16: 18,063,170 (GRCm39) |
E69K |
probably damaging |
Het |
| Rasl11a |
T |
C |
5: 146,782,045 (GRCm39) |
S7P |
probably damaging |
Het |
| Rev1 |
G |
A |
1: 38,098,324 (GRCm39) |
R740* |
probably null |
Het |
| Rnf157 |
C |
T |
11: 116,240,246 (GRCm39) |
V443M |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,291,017 (GRCm39) |
T1910S |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Siah2 |
T |
C |
3: 58,583,503 (GRCm39) |
N261S |
probably benign |
Het |
| Sumf2 |
T |
G |
5: 129,889,003 (GRCm39) |
W264G |
possibly damaging |
Het |
| Tal1 |
G |
T |
4: 114,920,625 (GRCm39) |
A100S |
probably benign |
Het |
| Tox2 |
G |
T |
2: 163,046,550 (GRCm39) |
R9L |
unknown |
Het |
| Traj46 |
A |
G |
14: 54,409,795 (GRCm39) |
E1G |
|
Het |
| Unc80 |
A |
G |
1: 66,680,788 (GRCm39) |
D2128G |
possibly damaging |
Het |
| Usp21 |
A |
T |
1: 171,112,290 (GRCm39) |
F308I |
probably damaging |
Het |
| Vgf |
A |
T |
5: 137,061,265 (GRCm39) |
I476F |
probably damaging |
Het |
| Vmn1r142 |
T |
A |
7: 21,862,748 (GRCm39) |
H238L |
probably benign |
Het |
| Vps35 |
G |
A |
8: 85,987,934 (GRCm39) |
T739I |
possibly damaging |
Het |
| Wdr95 |
G |
T |
5: 149,502,572 (GRCm39) |
C279F |
probably damaging |
Het |
| Zbtb32 |
T |
C |
7: 30,289,381 (GRCm39) |
S94G |
unknown |
Het |
| Zdhhc13 |
T |
A |
7: 48,452,747 (GRCm39) |
I153N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAAGGACCTCAATGGAGC -3'
(R):5'- ACAGAACTAGAGAGCGGCTC -3'
Sequencing Primer
(F):5'- GACTTGCTAGGAATCTGAGACCC -3'
(R):5'- GCGGCTCTGTGGGAGAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation