Incidental Mutation 'R6482:Akap8l'
| ID |
517181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap8l
|
| Ensembl Gene |
ENSMUSG00000002625 |
| Gene Name |
A kinase anchor protein 8-like |
| Synonyms |
Nakap95 |
| MMRRC Submission |
044614-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.641)
|
| Stock # |
R6482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32540398-32569581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32564370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 6
(F6L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050214]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050214
AA Change: F6L
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625
AA Change: F6L
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
C |
11: 69,902,388 (GRCm39) |
I415V |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,527,400 (GRCm39) |
N603Y |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,634,813 (GRCm39) |
S116P |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,825 (GRCm39) |
Q572L |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,070,980 (GRCm39) |
S20P |
probably damaging |
Het |
| Col22a1 |
G |
A |
15: 71,762,338 (GRCm39) |
P107L |
possibly damaging |
Het |
| Dpys |
T |
C |
15: 39,705,369 (GRCm39) |
H248R |
probably damaging |
Het |
| Dsg2 |
A |
T |
18: 20,734,371 (GRCm39) |
K783I |
possibly damaging |
Het |
| Efnb2 |
A |
T |
8: 8,670,637 (GRCm39) |
V321E |
probably damaging |
Het |
| Eif1ad13 |
A |
G |
12: 87,762,565 (GRCm39) |
Y95C |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
| Gm35315 |
A |
T |
5: 110,225,955 (GRCm39) |
C495S |
possibly damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,724 (GRCm39) |
Q335R |
possibly damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,333,670 (GRCm39) |
L203P |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,624,614 (GRCm39) |
S735P |
probably damaging |
Het |
| Klrg1 |
G |
T |
6: 122,248,412 (GRCm39) |
C162* |
probably null |
Het |
| Mcc |
T |
C |
18: 44,578,931 (GRCm39) |
S651G |
possibly damaging |
Het |
| Nkx2-2 |
T |
A |
2: 147,027,896 (GRCm39) |
I15F |
probably damaging |
Het |
| Nppa |
G |
A |
4: 148,085,328 (GRCm39) |
V13I |
probably benign |
Het |
| Obi1 |
A |
T |
14: 104,717,253 (GRCm39) |
C373* |
probably null |
Het |
| Or8i2 |
G |
C |
2: 86,852,869 (GRCm39) |
F6L |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,150,244 (GRCm39) |
N228D |
probably benign |
Het |
| Pgpep1l |
C |
T |
7: 67,888,815 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,622,778 (GRCm39) |
N673D |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,493,672 (GRCm39) |
S315P |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,388,664 (GRCm39) |
|
probably null |
Het |
| Rnf111 |
T |
C |
9: 70,336,889 (GRCm39) |
T925A |
probably damaging |
Het |
| Spag9 |
T |
C |
11: 93,984,328 (GRCm39) |
F734L |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,177,434 (GRCm39) |
V746A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,314,243 (GRCm39) |
F119L |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,057,244 (GRCm39) |
M576T |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,362,232 (GRCm39) |
V765E |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,409,093 (GRCm39) |
S140G |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,205,843 (GRCm39) |
S235P |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,649 (GRCm39) |
S504G |
probably benign |
Het |
| Wnt5b |
A |
T |
6: 119,410,573 (GRCm39) |
L289Q |
possibly damaging |
Het |
| Zfp142 |
G |
A |
1: 74,609,376 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
| Zfp948 |
A |
G |
17: 21,807,813 (GRCm39) |
H335R |
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 |
|
R6400:Akap8l
|
UTSW |
17 |
32,555,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TTACAGATTGCCTCAAAGAAGCAC -3'
(R):5'- ACAAGTTAAGCATGACCTGTCTG -3'
Sequencing Primer
(F):5'- CACAGTGCCACATATCAGGTTGG -3'
(R):5'- AAGCATGACCTGTCTGTACTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation