Incidental Mutation 'IGL02980:Akap1'
| ID |
392148 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02980 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
88721618-88755412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88735990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 224
(I224N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018572]
[ENSMUST00000107903]
[ENSMUST00000107904]
[ENSMUST00000143720]
|
| AlphaFold |
O08715 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018572
AA Change: I224N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: I224N
| 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: I224N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: I224N
| 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: I257N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: I257N
| 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: I224N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122295
Gene: ENSMUSG00000018428
AA Change: I224N
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
97% (35/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Adam28 |
A |
T |
14: 68,857,255 (GRCm39) |
S584T |
probably benign |
Het |
| Ankdd1b |
C |
T |
13: 96,572,448 (GRCm39) |
R214Q |
probably benign |
Het |
| Armt1 |
A |
G |
10: 4,400,643 (GRCm39) |
|
probably benign |
Het |
| C1rl |
T |
C |
6: 124,485,487 (GRCm39) |
I286T |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,150,399 (GRCm39) |
T2528A |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,447,198 (GRCm39) |
|
probably null |
Het |
| Dag1 |
A |
G |
9: 108,095,237 (GRCm39) |
I85T |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,172,379 (GRCm39) |
V86A |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,268,587 (GRCm39) |
T485A |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,250,188 (GRCm39) |
|
probably null |
Het |
| Hsd17b4 |
A |
G |
18: 50,279,585 (GRCm39) |
H188R |
probably benign |
Het |
| Ighv9-2 |
C |
T |
12: 114,072,839 (GRCm39) |
V45M |
probably damaging |
Het |
| Kifbp |
A |
C |
10: 62,394,947 (GRCm39) |
L565W |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,686,288 (GRCm39) |
L2784F |
probably benign |
Het |
| Ms4a4c |
G |
T |
19: 11,393,747 (GRCm39) |
A64S |
probably benign |
Het |
| Nudt22 |
A |
G |
19: 6,970,500 (GRCm39) |
L280P |
probably damaging |
Het |
| Oscar |
T |
C |
7: 3,614,062 (GRCm39) |
|
probably benign |
Het |
| Paics |
A |
G |
5: 77,114,102 (GRCm39) |
I321V |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,226,011 (GRCm39) |
H1288L |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,345,390 (GRCm39) |
E322G |
possibly damaging |
Het |
| Poldip2 |
T |
A |
11: 78,412,054 (GRCm39) |
M330K |
probably damaging |
Het |
| Potefam1 |
G |
A |
2: 110,994,818 (GRCm39) |
H232Y |
unknown |
Het |
| Recql5 |
T |
C |
11: 115,784,770 (GRCm39) |
|
probably null |
Het |
| Rnf145 |
A |
G |
11: 44,452,484 (GRCm39) |
M488V |
probably benign |
Het |
| Rrp1b |
T |
A |
17: 32,269,013 (GRCm39) |
D170E |
possibly damaging |
Het |
| Slamf7 |
T |
C |
1: 171,468,566 (GRCm39) |
S109G |
possibly damaging |
Het |
| Slf1 |
A |
G |
13: 77,192,123 (GRCm39) |
S904P |
possibly damaging |
Het |
| St7 |
C |
A |
6: 17,749,545 (GRCm39) |
|
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,555,390 (GRCm39) |
S102P |
probably damaging |
Het |
| Supt6 |
C |
T |
11: 78,116,548 (GRCm39) |
A659T |
probably damaging |
Het |
| Tdrp |
A |
C |
8: 14,003,918 (GRCm39) |
S140A |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,130,451 (GRCm39) |
N527D |
probably benign |
Het |
| Tsnaxip1 |
G |
T |
8: 106,568,842 (GRCm39) |
V444L |
probably damaging |
Het |
| U2af2 |
A |
G |
7: 5,071,042 (GRCm39) |
I116V |
probably benign |
Het |
| Zfp931 |
C |
A |
2: 177,711,409 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACCTTTGACCTGGGGTTC -3'
(R):5'- ATGCGTCCTTCCCCTATGAAG -3'
Sequencing Primer
(F):5'- CTTTGACCTGGGGTTCCAACG -3'
(R):5'- CTTCCCCTATGAAGCAGTGGAAAG -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation