Incidental Mutation 'R4379:Akap8l'
| ID |
325267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap8l
|
| Ensembl Gene |
ENSMUSG00000002625 |
| Gene Name |
A kinase anchor protein 8-like |
| Synonyms |
Nakap95 |
| MMRRC Submission |
041677-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.641)
|
| Stock # |
R4379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32540398-32569581 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 32540488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002699]
[ENSMUST00000050214]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002699
|
| SMART Domains |
Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
| 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 |
unknown
Transcript: ENSMUST00000050214
AA Change: E635G
|
| SMART Domains |
Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625
AA Change: E635G
| 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 |
0.0912 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
95% (53/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,915,875 (GRCm39) |
H1252Q |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,184,558 (GRCm39) |
L78P |
probably damaging |
Het |
| Agmat |
G |
T |
4: 141,484,802 (GRCm39) |
A282S |
probably benign |
Het |
| Akap8 |
G |
T |
17: 32,525,534 (GRCm39) |
T515K |
probably damaging |
Het |
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| AW209491 |
T |
C |
13: 14,812,412 (GRCm39) |
*422Q |
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,557,099 (GRCm39) |
F576L |
probably damaging |
Het |
| Cers5 |
A |
G |
15: 99,649,134 (GRCm39) |
F45L |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,267,056 (GRCm39) |
I5011V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
| En1 |
A |
G |
1: 120,531,084 (GRCm39) |
N108S |
possibly damaging |
Het |
| Entrep3 |
A |
T |
3: 89,093,064 (GRCm39) |
D274V |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,538,677 (GRCm39) |
S591P |
probably benign |
Het |
| Glt1d1 |
T |
C |
5: 127,771,346 (GRCm39) |
V279A |
possibly damaging |
Het |
| Gm10051 |
C |
T |
5: 133,504,287 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
G |
T |
2: 21,830,025 (GRCm39) |
G690V |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Grm7 |
T |
A |
6: 111,223,335 (GRCm39) |
N458K |
probably benign |
Het |
| Hibadh |
G |
A |
6: 52,597,027 (GRCm39) |
S139L |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,308,906 (GRCm39) |
S382F |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,568,171 (GRCm39) |
N403D |
probably benign |
Het |
| Igkv4-81 |
A |
G |
6: 68,967,933 (GRCm39) |
L56S |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lmbr1l |
G |
T |
15: 98,807,144 (GRCm39) |
C212* |
probably null |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Lrrc34 |
A |
G |
3: 30,685,524 (GRCm39) |
L275P |
probably damaging |
Het |
| Mgam2-ps |
T |
C |
6: 40,810,793 (GRCm39) |
|
noncoding transcript |
Het |
| Mief1 |
T |
G |
15: 80,132,160 (GRCm39) |
M77R |
possibly damaging |
Het |
| Neurod6 |
T |
C |
6: 55,656,257 (GRCm39) |
T127A |
probably damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,494,738 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,288,554 (GRCm39) |
T653S |
probably benign |
Het |
| Nol7 |
G |
T |
13: 43,555,051 (GRCm39) |
W228L |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,194,948 (GRCm39) |
R468H |
probably damaging |
Het |
| Or5ac15 |
C |
T |
16: 58,940,027 (GRCm39) |
M135I |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,038 (GRCm39) |
L211P |
probably benign |
Het |
| Pbrm1 |
A |
T |
14: 30,789,663 (GRCm39) |
H785L |
probably damaging |
Het |
| Pus7 |
T |
C |
5: 23,953,864 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
G |
T |
2: 104,596,404 (GRCm39) |
|
probably null |
Het |
| Rrm1 |
T |
C |
7: 102,095,800 (GRCm39) |
V51A |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 79,129,896 (GRCm39) |
N112S |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,046,909 (GRCm39) |
H52Y |
probably damaging |
Het |
| Taf1d |
T |
A |
9: 15,223,277 (GRCm39) |
|
probably benign |
Het |
| Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,667,424 (GRCm39) |
Y103C |
probably damaging |
Het |
| Trim28 |
A |
T |
7: 12,763,407 (GRCm39) |
D516V |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,334,499 (GRCm39) |
N1164K |
possibly damaging |
Het |
| Vmn2r115 |
A |
G |
17: 23,564,197 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfp28 |
C |
T |
7: 6,396,441 (GRCm39) |
T292I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,649,858 (GRCm39) |
|
probably null |
Het |
| Zscan4d |
A |
G |
7: 10,898,905 (GRCm39) |
V124A |
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 |
|
|
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'- GTAAGCTAGTGCGCAAGAGC -3'
(R):5'- TCACTGACAACCCAGAGGAG -3'
Sequencing Primer
(F):5'- GAGCGTCCAGGTCCGCG -3'
(R):5'- CTGGCGCTCTGGATGAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation