Incidental Mutation 'IGL01070:Akap3'
| ID |
51254 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akap3
|
| Ensembl Gene |
ENSMUSG00000030344 |
| Gene Name |
A kinase anchor protein 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL01070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
126830061-126851271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126842842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 487
(E487V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095440]
[ENSMUST00000202574]
[ENSMUST00000202878]
|
| AlphaFold |
O88987 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095440
AA Change: E487V
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: E487V
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202574
AA Change: E487V
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: E487V
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202878
AA Change: E487V
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: E487V
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,660,021 (GRCm39) |
H757R |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Bicd2 |
T |
C |
13: 49,531,792 (GRCm39) |
S271P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cma1 |
A |
G |
14: 56,180,154 (GRCm39) |
S71P |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,158,370 (GRCm39) |
Y494H |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,993,913 (GRCm39) |
K191R |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,724,927 (GRCm39) |
V507I |
probably benign |
Het |
| Fam178b |
C |
T |
1: 36,603,484 (GRCm39) |
R489Q |
possibly damaging |
Het |
| Kcnj4 |
A |
G |
15: 79,368,780 (GRCm39) |
L400P |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,491,907 (GRCm39) |
Y411H |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,101,156 (GRCm39) |
I78L |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,317,516 (GRCm39) |
D1377G |
probably damaging |
Het |
| Pramel5 |
T |
G |
4: 143,997,842 (GRCm39) |
Y467S |
probably damaging |
Het |
| Prkg1 |
G |
A |
19: 30,546,743 (GRCm39) |
|
probably benign |
Het |
| Rbfox1 |
A |
C |
16: 7,124,307 (GRCm39) |
S219R |
possibly damaging |
Het |
| Rfng |
T |
C |
11: 120,674,778 (GRCm39) |
N71D |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,461 (GRCm39) |
I1884V |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,305,483 (GRCm39) |
Y939N |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,979 (GRCm39) |
V322A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,433,619 (GRCm39) |
S1455P |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,208,965 (GRCm39) |
R703W |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 29,904,185 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,306,299 (GRCm39) |
D43G |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,054,750 (GRCm39) |
M685K |
probably benign |
Het |
| Trac |
A |
G |
14: 54,458,223 (GRCm39) |
T82A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,861 (GRCm39) |
N1295S |
probably damaging |
Het |
| Ttc36 |
T |
C |
9: 44,712,887 (GRCm39) |
|
probably null |
Het |
| Utp18 |
A |
T |
11: 93,760,674 (GRCm39) |
S384T |
possibly damaging |
Het |
| Vmn1r64 |
C |
A |
7: 5,886,941 (GRCm39) |
A201S |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,566 (GRCm39) |
I714F |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,262,268 (GRCm39) |
V626D |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,467,579 (GRCm39) |
|
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
|
| Other mutations in Akap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Akap3
|
APN |
6 |
126,842,694 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01975:Akap3
|
APN |
6 |
126,850,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02114:Akap3
|
APN |
6 |
126,842,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02349:Akap3
|
APN |
6 |
126,837,226 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03305:Akap3
|
APN |
6 |
126,841,728 (GRCm39) |
missense |
probably benign |
|
|
IGL03412:Akap3
|
APN |
6 |
126,841,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03097:Akap3
|
UTSW |
6 |
126,843,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0012:Akap3
|
UTSW |
6 |
126,841,564 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0358:Akap3
|
UTSW |
6 |
126,843,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1123:Akap3
|
UTSW |
6 |
126,842,929 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1163:Akap3
|
UTSW |
6 |
126,841,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Akap3
|
UTSW |
6 |
126,842,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Akap3
|
UTSW |
6 |
126,842,809 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1967:Akap3
|
UTSW |
6 |
126,842,061 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4030:Akap3
|
UTSW |
6 |
126,841,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Akap3
|
UTSW |
6 |
126,843,406 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4677:Akap3
|
UTSW |
6 |
126,842,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4735:Akap3
|
UTSW |
6 |
126,842,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5660:Akap3
|
UTSW |
6 |
126,842,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5834:Akap3
|
UTSW |
6 |
126,842,796 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5847:Akap3
|
UTSW |
6 |
126,842,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Akap3
|
UTSW |
6 |
126,843,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7007:Akap3
|
UTSW |
6 |
126,843,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7070:Akap3
|
UTSW |
6 |
126,850,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7123:Akap3
|
UTSW |
6 |
126,843,267 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7173:Akap3
|
UTSW |
6 |
126,841,729 (GRCm39) |
missense |
probably benign |
|
|
R7238:Akap3
|
UTSW |
6 |
126,842,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7437:Akap3
|
UTSW |
6 |
126,842,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7731:Akap3
|
UTSW |
6 |
126,842,031 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7737:Akap3
|
UTSW |
6 |
126,851,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Akap3
|
UTSW |
6 |
126,842,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8504:Akap3
|
UTSW |
6 |
126,841,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8755:Akap3
|
UTSW |
6 |
126,843,130 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9440:Akap3
|
UTSW |
6 |
126,841,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9579:Akap3
|
UTSW |
6 |
126,850,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9594:Akap3
|
UTSW |
6 |
126,842,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Akap3
|
UTSW |
6 |
126,842,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0028:Akap3
|
UTSW |
6 |
126,842,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation