Incidental Mutation 'R6400:Akap8l'
| ID |
516142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap8l
|
| Ensembl Gene |
ENSMUSG00000002625 |
| Gene Name |
A kinase anchor protein 8-like |
| Synonyms |
Nakap95 |
| MMRRC Submission |
044547-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.567)
|
| Stock # |
R6400 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32540398-32569581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32555294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 262
(R262C)
|
| 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: R262C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625
AA Change: R262C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.2%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,638,435 (GRCm39) |
*160Q |
probably null |
Het |
| Aen |
G |
A |
7: 78,557,142 (GRCm39) |
G330E |
probably benign |
Het |
| Cbx8 |
G |
A |
11: 118,929,694 (GRCm39) |
Q300* |
probably null |
Het |
| Cd274 |
C |
T |
19: 29,362,808 (GRCm39) |
T290M |
probably damaging |
Het |
| Cd36 |
A |
C |
5: 18,019,721 (GRCm39) |
S127A |
probably damaging |
Het |
| Celf3 |
A |
G |
3: 94,387,593 (GRCm39) |
Y55C |
probably damaging |
Het |
| Clec1a |
A |
T |
6: 129,412,316 (GRCm39) |
|
probably null |
Het |
| Cog2 |
A |
T |
8: 125,277,045 (GRCm39) |
I684F |
probably damaging |
Het |
| Cyp2c65 |
C |
T |
19: 39,049,558 (GRCm39) |
L29F |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Dytn |
A |
T |
1: 63,680,335 (GRCm39) |
L408* |
probably null |
Het |
| Flg |
A |
G |
3: 93,187,228 (GRCm39) |
T227A |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,001,784 (GRCm39) |
K887M |
probably null |
Het |
| Hoxb1 |
C |
T |
11: 96,256,818 (GRCm39) |
Q56* |
probably null |
Het |
| Kcnh7 |
T |
A |
2: 62,569,688 (GRCm39) |
N736I |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,821,478 (GRCm39) |
V120A |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,458,397 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,259 (GRCm39) |
S999T |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,155,332 (GRCm39) |
F1171L |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,402 (GRCm39) |
S1783P |
unknown |
Het |
| Nbr1 |
T |
C |
11: 101,456,600 (GRCm39) |
L159P |
probably damaging |
Het |
| Nme9 |
T |
C |
9: 99,351,760 (GRCm39) |
F248S |
possibly damaging |
Het |
| Or4x11 |
C |
T |
2: 89,867,739 (GRCm39) |
L159F |
probably benign |
Het |
| Or6k2 |
T |
C |
1: 173,986,830 (GRCm39) |
S164P |
probably damaging |
Het |
| Rasgrf1 |
C |
T |
9: 89,873,683 (GRCm39) |
T664I |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,020,286 (GRCm39) |
D91G |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,080,157 (GRCm39) |
R514G |
probably null |
Het |
| Svep1 |
C |
A |
4: 58,049,169 (GRCm39) |
G3446V |
probably damaging |
Het |
| Tcte2 |
T |
A |
17: 13,942,714 (GRCm39) |
|
probably benign |
Het |
| Trmt10b |
A |
G |
4: 45,308,562 (GRCm39) |
K239E |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,072,322 (GRCm39) |
S189T |
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 |
|
R1192: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 |
|
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'- TTGCTGTCTGGCTCATCAGG -3'
(R):5'- GATACATTTGGTCCAAGGGCTC -3'
Sequencing Primer
(F):5'- TGTCTGGCTCATCAGGACTGC -3'
(R):5'- GCGCATGTGGGAAGATCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation