Incidental Mutation 'R7123:Akap3'
| ID |
552140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap3
|
| Ensembl Gene |
ENSMUSG00000030344 |
| Gene Name |
A kinase anchor protein 3 |
| Synonyms |
|
| MMRRC Submission |
045211-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R7123 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
126830061-126851271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126843267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 629
(I629L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095440]
[ENSMUST00000202574]
[ENSMUST00000202878]
|
| AlphaFold |
O88987 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095440
AA Change: I629L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: I629L
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202574
AA Change: I629L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: I629L
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202878
AA Change: I629L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: I629L
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (52/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,484,949 (GRCm39) |
I1521T |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,740,693 (GRCm39) |
I145N |
probably damaging |
Het |
| Ago3 |
C |
A |
4: 126,248,798 (GRCm39) |
|
probably null |
Het |
| Agrn |
A |
T |
4: 156,257,297 (GRCm39) |
W1178R |
probably benign |
Het |
| Aknad1 |
T |
G |
3: 108,682,560 (GRCm39) |
Y545* |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,454,930 (GRCm39) |
V1925F |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,799,943 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
T |
C |
2: 32,669,413 (GRCm39) |
E294G |
probably damaging |
Het |
| Cfd |
G |
A |
10: 79,728,331 (GRCm39) |
G231S |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,215,300 (GRCm39) |
V105A |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,922,591 (GRCm39) |
W523R |
probably damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dnajc22 |
A |
C |
15: 98,999,085 (GRCm39) |
Y90S |
possibly damaging |
Het |
| Ebna1bp2 |
A |
G |
4: 118,482,772 (GRCm39) |
K254E |
probably damaging |
Het |
| Gfpt1 |
A |
T |
6: 87,033,168 (GRCm39) |
D131V |
probably damaging |
Het |
| Gm5460 |
A |
G |
14: 33,763,982 (GRCm39) |
I21V |
unknown |
Het |
| H2-T9 |
A |
G |
17: 36,438,686 (GRCm39) |
I235T |
possibly damaging |
Het |
| Htr1d |
C |
T |
4: 136,169,664 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,516,749 (GRCm39) |
E1570K |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,919,789 (GRCm39) |
Y887H |
probably damaging |
Het |
| Kti12 |
T |
C |
4: 108,705,679 (GRCm39) |
S198P |
probably benign |
Het |
| Mcmdc2 |
A |
T |
1: 10,010,643 (GRCm39) |
I604F |
unknown |
Het |
| Mmp8 |
A |
T |
9: 7,563,196 (GRCm39) |
D253V |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,569,509 (GRCm39) |
S252P |
possibly damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,505 (GRCm39) |
K1317R |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,530,435 (GRCm39) |
I749V |
probably benign |
Het |
| Nfrkb |
A |
G |
9: 31,325,311 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,904,477 (GRCm39) |
T7166A |
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,466,313 (GRCm39) |
S1472P |
probably damaging |
Het |
| Or14j7 |
T |
A |
17: 38,234,567 (GRCm39) |
L37M |
probably benign |
Het |
| Or1e20-ps1 |
T |
A |
11: 73,324,536 (GRCm39) |
D172V |
unknown |
Het |
| Orc1 |
A |
C |
4: 108,445,884 (GRCm39) |
M1L |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,813,742 (GRCm39) |
S4069T |
possibly damaging |
Het |
| Pus1 |
T |
C |
5: 110,921,798 (GRCm39) |
*442W |
probably null |
Het |
| Rgma |
A |
C |
7: 73,059,139 (GRCm39) |
D97A |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,746,279 (GRCm39) |
K3834E |
probably benign |
Het |
| Sars2 |
T |
C |
7: 28,452,866 (GRCm39) |
V475A |
probably benign |
Het |
| Scamp2 |
A |
T |
9: 57,494,385 (GRCm39) |
T253S |
probably benign |
Het |
| Skint9 |
C |
T |
4: 112,248,174 (GRCm39) |
W190* |
probably null |
Het |
| Spata31d1e |
G |
A |
13: 59,891,254 (GRCm39) |
Q189* |
probably null |
Het |
| Sv2b |
C |
T |
7: 74,767,450 (GRCm39) |
V649I |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,835 (GRCm39) |
V827A |
probably benign |
Het |
| Tiparp |
A |
T |
3: 65,460,948 (GRCm39) |
I646F |
probably damaging |
Het |
| Topaz1 |
G |
A |
9: 122,577,480 (GRCm39) |
G130D |
probably damaging |
Het |
| Trio |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
15: 27,742,399 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,619,051 (GRCm39) |
P319S |
possibly damaging |
Het |
| Umodl1 |
T |
A |
17: 31,201,318 (GRCm39) |
F416I |
possibly damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,261,088 (GRCm39) |
D445G |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,235,462 (GRCm39) |
V651A |
possibly damaging |
Het |
| Zbtb21 |
C |
T |
16: 97,751,112 (GRCm39) |
S1057N |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,815,950 (GRCm39) |
C667S |
probably damaging |
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 |
|
IGL01070:Akap3
|
APN |
6 |
126,842,842 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCCAGCACCAATTTTCC -3'
(R):5'- CTTCATCACCGAGTCCATCAG -3'
Sequencing Primer
(F):5'- GTTCAGGATGAGTGCAAACTTAAGTC -3'
(R):5'- AGTCCATCAGGTGCTCCAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation