Incidental Mutation 'R1192:Akap8l'
ID |
100915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akap8l
|
Ensembl Gene |
ENSMUSG00000002625 |
Gene Name |
A kinase anchor protein 8-like |
Synonyms |
Nakap95 |
MMRRC Submission |
039264-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.567)
|
Stock # |
R1192 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
32540398-32569581 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32551457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 511
(R511H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050214]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050214
AA Change: R511H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051389 Gene: ENSMUSG00000002625 AA Change: R511H
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 |
0.5342 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
Validation Efficiency |
97% (32/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
probably benign |
Het |
|
Other mutations in Akap8l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00590:Akap8l
|
APN |
17 |
32,552,071 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01603:Akap8l
|
APN |
17 |
32,564,327 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02028:Akap8l
|
APN |
17 |
32,557,495 (GRCm39) |
splice site |
probably null |
|
IGL02033:Akap8l
|
APN |
17 |
32,557,246 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02301:Akap8l
|
APN |
17 |
32,551,900 (GRCm39) |
splice site |
probably benign |
|
R1136:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1137:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1277:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1279:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1703:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1705:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1706:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1763:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1774:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1796:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Akap8l
|
UTSW |
17 |
32,555,710 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2072:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2073:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2074:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2107:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2108:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2214:Akap8l
|
UTSW |
17 |
32,557,799 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2215:Akap8l
|
UTSW |
17 |
32,540,569 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2219:Akap8l
|
UTSW |
17 |
32,553,605 (GRCm39) |
missense |
probably benign |
0.23 |
R2234:Akap8l
|
UTSW |
17 |
32,557,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R2871:Akap8l
|
UTSW |
17 |
32,557,416 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2871:Akap8l
|
UTSW |
17 |
32,557,416 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4273:Akap8l
|
UTSW |
17 |
32,540,905 (GRCm39) |
nonsense |
probably null |
|
R4379:Akap8l
|
UTSW |
17 |
32,540,488 (GRCm39) |
unclassified |
probably benign |
|
R5061:Akap8l
|
UTSW |
17 |
32,551,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R5337:Akap8l
|
UTSW |
17 |
32,555,368 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5377:Akap8l
|
UTSW |
17 |
32,540,485 (GRCm39) |
unclassified |
probably benign |
|
R5579:Akap8l
|
UTSW |
17 |
32,540,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R5609:Akap8l
|
UTSW |
17 |
32,557,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R5667:Akap8l
|
UTSW |
17 |
32,557,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R5671:Akap8l
|
UTSW |
17 |
32,557,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R5747:Akap8l
|
UTSW |
17 |
32,564,352 (GRCm39) |
missense |
probably damaging |
0.97 |
R6186:Akap8l
|
UTSW |
17 |
32,552,018 (GRCm39) |
missense |
probably benign |
0.02 |
R6400:Akap8l
|
UTSW |
17 |
32,555,294 (GRCm39) |
missense |
probably damaging |
0.99 |
R6482:Akap8l
|
UTSW |
17 |
32,564,370 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6712:Akap8l
|
UTSW |
17 |
32,551,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R7165:Akap8l
|
UTSW |
17 |
32,557,386 (GRCm39) |
missense |
probably damaging |
0.99 |
R7485:Akap8l
|
UTSW |
17 |
32,554,545 (GRCm39) |
missense |
probably benign |
0.03 |
R7729:Akap8l
|
UTSW |
17 |
32,552,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R9437:Akap8l
|
UTSW |
17 |
32,553,608 (GRCm39) |
missense |
probably benign |
0.24 |
R9651:Akap8l
|
UTSW |
17 |
32,557,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9652:Akap8l
|
UTSW |
17 |
32,557,783 (GRCm39) |
missense |
probably damaging |
1.00 |
V5088:Akap8l
|
UTSW |
17 |
32,555,713 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCATCCTTGTACACCAGGCAAC -3'
(R):5'- TTTGGCACCTGAGACTGTGATGAC -3'
Sequencing Primer
(F):5'- agccttgaacttacagagacc -3'
(R):5'- AGACTGTGATGACTGCTTTCTTC -3'
|
Posted On |
2014-01-15 |