Incidental Mutation 'R3423:Akap8'
| ID |
267139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap8
|
| Ensembl Gene |
ENSMUSG00000024045 |
| Gene Name |
A kinase anchor protein 8 |
| Synonyms |
AKAP95, 1200016A02Rik |
| MMRRC Submission |
040641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32522646-32540212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32535429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 195
(F195S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002699]
[ENSMUST00000050214]
|
| AlphaFold |
Q9DBR0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002699
AA Change: F195S
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
AA Change: F195S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050214
|
| SMART Domains |
Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
350 |
N/A |
INTRINSIC |
|
coiled coil region
|
356 |
383 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
389 |
413 |
1.05e1 |
SMART |
|
SCOP:d1jvr__
|
538 |
613 |
7e-5 |
SMART |
|
low complexity region
|
628 |
640 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0623 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (38/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
G |
A |
11: 61,106,362 (GRCm39) |
A246T |
probably damaging |
Het |
| Caskin1 |
T |
A |
17: 24,718,539 (GRCm39) |
N331K |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,491,562 (GRCm39) |
S644N |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
| Cyp4a12a |
A |
C |
4: 115,184,471 (GRCm39) |
K282T |
probably benign |
Het |
| Dtnb |
C |
T |
12: 3,641,962 (GRCm39) |
R42* |
probably null |
Het |
| Dyrk3 |
A |
G |
1: 131,057,219 (GRCm39) |
I318T |
probably damaging |
Het |
| Fhip2b |
G |
A |
14: 70,824,025 (GRCm39) |
T535M |
probably damaging |
Het |
| Gm11110 |
T |
C |
17: 57,410,435 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
| Igfn1 |
A |
G |
1: 135,926,379 (GRCm39) |
S24P |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,678,890 (GRCm39) |
M307V |
possibly damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,731,394 (GRCm39) |
|
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,701,523 (GRCm39) |
|
probably null |
Het |
| Lrrc14 |
T |
A |
15: 76,597,318 (GRCm39) |
|
probably null |
Het |
| Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
| Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Mug2 |
T |
C |
6: 122,024,465 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,401,126 (GRCm39) |
|
probably null |
Het |
| Nup98 |
T |
C |
7: 101,834,084 (GRCm39) |
T293A |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,957,504 (GRCm39) |
Y278F |
probably damaging |
Het |
| Or12d12 |
T |
A |
17: 37,610,761 (GRCm39) |
D184V |
probably benign |
Het |
| Phactr4 |
A |
C |
4: 132,097,058 (GRCm39) |
D496E |
probably benign |
Het |
| Pramel6 |
T |
A |
2: 87,341,140 (GRCm39) |
|
probably null |
Het |
| Ptprq |
C |
T |
10: 107,418,337 (GRCm39) |
A1680T |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,639,008 (GRCm39) |
C70S |
probably damaging |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,650,327 (GRCm39) |
N865D |
probably damaging |
Het |
| Sp9 |
G |
A |
2: 73,104,315 (GRCm39) |
A290T |
probably benign |
Het |
| Spg11 |
C |
T |
2: 121,901,534 (GRCm39) |
V1469I |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,837,935 (GRCm39) |
A972D |
possibly damaging |
Het |
| Vwa3a |
T |
C |
7: 120,398,334 (GRCm39) |
L945P |
probably damaging |
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 |
|
IGL01450:Akap8
|
APN |
17 |
32,534,661 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATGCTGTAGTCAGGGGC -3'
(R):5'- ATGGGCTGTATACTTCCTTTGC -3'
Sequencing Primer
(F):5'- TAGTCAGGGGCCATGGACTG -3'
(R):5'- GCTTCCAGCCATACGAGTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation