Incidental Mutation 'IGL01450:Akap8'
| ID |
84603 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akap8
|
| Ensembl Gene |
ENSMUSG00000024045 |
| Gene Name |
A kinase anchor protein 8 |
| Synonyms |
AKAP95, 1200016A02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01450
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
32522646-32540212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32534661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 317
(R317L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002699]
|
| AlphaFold |
Q9DBR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002699
AA Change: R317L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
AA Change: R317L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a0tp_
|
12 |
108 |
3e-19 |
SMART |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
384 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
387 |
411 |
9.46e0 |
SMART |
|
Blast:ZnF_C2H2
|
476 |
501 |
9e-9 |
BLAST |
|
low complexity region
|
551 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
651 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the A-kinase anchoring protein (AKAP) family. These proteins are characterized by their ability to bind to the R subunit of protein kinase A (PKA) and anchor the protein at different subcellular locations. This protein has been shown to regulate apoptosis and to be involved in palatogenesis. Knockdown of this gene has been associated with altered histone modifications and reduced expression of developmental genes in mouse embryonic stem cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a gene trap insertion are viable and overtly normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
G |
A |
14: 103,288,919 (GRCm39) |
R143Q |
possibly damaging |
Het |
| Adh4 |
T |
A |
3: 138,129,794 (GRCm39) |
C207S |
probably benign |
Het |
| Aptx |
T |
C |
4: 40,688,133 (GRCm39) |
T182A |
probably damaging |
Het |
| Ccar2 |
A |
T |
14: 70,377,200 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,369 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,539,144 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
G |
2: 13,355,673 (GRCm39) |
|
probably benign |
Het |
| Cyp2j5 |
T |
A |
4: 96,546,927 (GRCm39) |
T196S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,171,092 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
A |
T |
17: 84,940,984 (GRCm39) |
T67S |
possibly damaging |
Het |
| Fetub |
A |
G |
16: 22,747,986 (GRCm39) |
N54S |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,163,664 (GRCm39) |
Y486H |
probably damaging |
Het |
| Grb10 |
T |
A |
11: 11,920,432 (GRCm39) |
H62L |
probably damaging |
Het |
| H6pd |
T |
G |
4: 150,068,575 (GRCm39) |
H264P |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,520 (GRCm39) |
S747P |
probably benign |
Het |
| Mtcl3 |
T |
A |
10: 29,072,319 (GRCm39) |
M537K |
probably damaging |
Het |
| Nkpd1 |
T |
C |
7: 19,257,550 (GRCm39) |
F293S |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Osbpl1a |
A |
C |
18: 13,004,152 (GRCm39) |
F422V |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,727,207 (GRCm39) |
|
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,968,653 (GRCm39) |
R825C |
probably damaging |
Het |
| Plk2 |
G |
A |
13: 110,532,858 (GRCm39) |
V140M |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,524,244 (GRCm39) |
S388P |
probably benign |
Het |
| Rap1gds1 |
A |
T |
3: 138,671,681 (GRCm39) |
N146K |
probably damaging |
Het |
| Rgs7 |
C |
T |
1: 174,913,746 (GRCm39) |
V1M |
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,519,250 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
G |
11: 106,215,487 (GRCm39) |
I1163T |
probably damaging |
Het |
| Selenop |
C |
T |
15: 3,306,755 (GRCm39) |
T178M |
probably benign |
Het |
| Shank2 |
G |
T |
7: 143,838,805 (GRCm39) |
E680* |
probably null |
Het |
| Sipa1l2 |
A |
C |
8: 126,149,316 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
T |
C |
18: 78,226,745 (GRCm39) |
T437A |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,305,189 (GRCm39) |
P307S |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,671,014 (GRCm39) |
R443L |
possibly damaging |
Het |
| Stpg3 |
T |
C |
2: 25,104,622 (GRCm39) |
|
probably benign |
Het |
| Tinag |
T |
A |
9: 76,952,858 (GRCm39) |
E42V |
possibly damaging |
Het |
| Topors |
C |
A |
4: 40,262,417 (GRCm39) |
R289L |
probably damaging |
Het |
| Ubash3a |
C |
A |
17: 31,427,205 (GRCm39) |
A38E |
probably damaging |
Het |
| Vmn2r121 |
T |
A |
X: 123,040,888 (GRCm39) |
Y481F |
possibly damaging |
Het |
| Vps54 |
A |
T |
11: 21,241,135 (GRCm39) |
E359D |
probably benign |
Het |
| Xkr6 |
G |
A |
14: 64,035,664 (GRCm39) |
R255H |
probably damaging |
Het |
| Zfp750 |
C |
T |
11: 121,403,855 (GRCm39) |
R340H |
probably benign |
Het |
|
| Other mutations in Akap8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Akap8
|
APN |
17 |
32,536,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02002:Akap8
|
APN |
17 |
32,528,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02223:Akap8
|
APN |
17 |
32,535,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02315:Akap8
|
APN |
17 |
32,524,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03404:Akap8
|
APN |
17 |
32,531,250 (GRCm39) |
splice site |
probably benign |
|
|
BB006:Akap8
|
UTSW |
17 |
32,528,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB016:Akap8
|
UTSW |
17 |
32,528,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Akap8
|
UTSW |
17 |
32,535,234 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0526:Akap8
|
UTSW |
17 |
32,536,266 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1795:Akap8
|
UTSW |
17 |
32,534,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Akap8
|
UTSW |
17 |
32,535,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2571:Akap8
|
UTSW |
17 |
32,534,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2918:Akap8
|
UTSW |
17 |
32,524,622 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3423:Akap8
|
UTSW |
17 |
32,535,429 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3870:Akap8
|
UTSW |
17 |
32,536,813 (GRCm39) |
unclassified |
probably benign |
|
|
R4077:Akap8
|
UTSW |
17 |
32,531,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Akap8
|
UTSW |
17 |
32,531,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4379:Akap8
|
UTSW |
17 |
32,525,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4756:Akap8
|
UTSW |
17 |
32,535,184 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4819:Akap8
|
UTSW |
17 |
32,531,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5091:Akap8
|
UTSW |
17 |
32,535,208 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5761:Akap8
|
UTSW |
17 |
32,536,159 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6896:Akap8
|
UTSW |
17 |
32,536,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7138:Akap8
|
UTSW |
17 |
32,535,515 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7350:Akap8
|
UTSW |
17 |
32,535,549 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7929:Akap8
|
UTSW |
17 |
32,528,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Akap8
|
UTSW |
17 |
32,529,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Akap8
|
UTSW |
17 |
32,525,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9521:Akap8
|
UTSW |
17 |
32,530,036 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0020:Akap8
|
UTSW |
17 |
32,534,724 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Akap8
|
UTSW |
17 |
32,525,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation