Incidental Mutation 'R1221:Aak1'
| ID |
100082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aak1
|
| Ensembl Gene |
ENSMUSG00000057230 |
| Gene Name |
AP2 associated kinase 1 |
| Synonyms |
D6Ertd245e, 5530400K14Rik |
| MMRRC Submission |
039290-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R1221 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
86826499-86980205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86942460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 668
(S668P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003710]
[ENSMUST00000089519]
|
| AlphaFold |
Q3UHJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000003710
AA Change: S587P
|
| SMART Domains |
Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: S587P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
46 |
310 |
1.5e-27 |
PFAM |
|
Pfam:Pkinase
|
46 |
312 |
7e-43 |
PFAM |
|
low complexity region
|
420 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
712 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
861 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000089519
AA Change: S668P
|
| SMART Domains |
Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: S668P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
46 |
310 |
1e-26 |
PFAM |
|
Pfam:Pkinase
|
46 |
312 |
2.2e-44 |
PFAM |
|
low complexity region
|
420 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
929 |
942 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204381
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204613
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks1 |
A |
G |
17: 28,269,616 (GRCm39) |
Q770R |
possibly damaging |
Het |
| Apc2 |
G |
A |
10: 80,142,214 (GRCm39) |
V378I |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,969,808 (GRCm39) |
V184A |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,717 (GRCm39) |
F404S |
probably damaging |
Het |
| Bap1 |
T |
C |
14: 30,979,608 (GRCm39) |
L537P |
probably damaging |
Het |
| Bhlha15 |
A |
G |
5: 144,128,341 (GRCm39) |
Y151C |
probably damaging |
Het |
| Bmp8b |
A |
T |
4: 123,008,504 (GRCm39) |
T157S |
probably damaging |
Het |
| Btbd1 |
G |
T |
7: 81,468,005 (GRCm39) |
H172N |
possibly damaging |
Het |
| C1rl |
A |
G |
6: 124,470,940 (GRCm39) |
R83G |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,072,902 (GRCm39) |
T387A |
probably benign |
Het |
| Cfi |
A |
T |
3: 129,666,618 (GRCm39) |
Q447L |
probably damaging |
Het |
| Cimap1a |
G |
T |
7: 140,428,296 (GRCm39) |
W10L |
probably damaging |
Het |
| Coq6 |
A |
G |
12: 84,418,301 (GRCm39) |
E295G |
possibly damaging |
Het |
| Dclre1a |
T |
C |
19: 56,519,700 (GRCm39) |
T978A |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,051,985 (GRCm39) |
D582G |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,776,952 (GRCm39) |
T65A |
probably benign |
Het |
| Dock5 |
G |
A |
14: 67,996,610 (GRCm39) |
S1711L |
probably benign |
Het |
| Drc3 |
A |
C |
11: 60,275,052 (GRCm39) |
I338L |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,247,599 (GRCm39) |
C5* |
probably null |
Het |
| F5 |
A |
G |
1: 163,989,368 (GRCm39) |
Y90C |
probably damaging |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| Gm136 |
G |
T |
4: 34,744,127 (GRCm39) |
A239E |
possibly damaging |
Het |
| Gm4952 |
A |
T |
19: 12,601,059 (GRCm39) |
D93V |
possibly damaging |
Het |
| Gramd1c |
T |
C |
16: 43,810,227 (GRCm39) |
T454A |
possibly damaging |
Het |
| Gstm6 |
A |
G |
3: 107,848,418 (GRCm39) |
I58T |
probably damaging |
Het |
| Kdm3b |
C |
T |
18: 34,941,298 (GRCm39) |
S263L |
possibly damaging |
Het |
| Kdm5b |
G |
C |
1: 134,526,829 (GRCm39) |
S317T |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,777,546 (GRCm39) |
R71G |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,072,290 (GRCm39) |
P518S |
probably benign |
Het |
| Nme5 |
A |
T |
18: 34,704,575 (GRCm39) |
I90N |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,950,722 (GRCm39) |
T478S |
probably damaging |
Het |
| Or8g22 |
A |
C |
9: 38,958,483 (GRCm39) |
D77E |
probably damaging |
Het |
| Osmr |
G |
A |
15: 6,853,042 (GRCm39) |
Q617* |
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
| Pdpn |
G |
A |
4: 143,000,608 (GRCm39) |
R75C |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,018,725 (GRCm39) |
F842Y |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,719 (GRCm39) |
V255E |
probably benign |
Het |
| Sema3a |
A |
G |
5: 13,566,190 (GRCm39) |
Q158R |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,899,798 (GRCm39) |
R1290W |
probably damaging |
Het |
| Slc20a1 |
G |
A |
2: 129,050,324 (GRCm39) |
G494D |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,889,584 (GRCm39) |
E151G |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,086,567 (GRCm39) |
F351L |
probably benign |
Het |
| Tas1r2 |
A |
G |
4: 139,396,436 (GRCm39) |
M592V |
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,387,909 (GRCm39) |
T347A |
probably benign |
Het |
| Tmem109 |
C |
A |
19: 10,851,733 (GRCm39) |
R37L |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,045,871 (GRCm39) |
S862L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,781,857 (GRCm39) |
D1017V |
probably damaging |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,644,813 (GRCm39) |
S1130G |
possibly damaging |
Het |
|
| Other mutations in Aak1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Aak1
|
APN |
6 |
86,923,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01284:Aak1
|
APN |
6 |
86,827,035 (GRCm39) |
start codon destroyed |
possibly damaging |
0.86 |
|
IGL01292:Aak1
|
APN |
6 |
86,926,520 (GRCm39) |
splice site |
probably benign |
|
|
IGL01344:Aak1
|
APN |
6 |
86,923,139 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02317:Aak1
|
APN |
6 |
86,933,282 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02422:Aak1
|
APN |
6 |
86,959,598 (GRCm39) |
missense |
unknown |
|
|
IGL02531:Aak1
|
APN |
6 |
86,933,429 (GRCm39) |
missense |
unknown |
|
|
IGL02719:Aak1
|
APN |
6 |
86,936,152 (GRCm39) |
intron |
probably benign |
|
|
IGL03051:Aak1
|
APN |
6 |
86,964,283 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0382:Aak1
|
UTSW |
6 |
86,923,901 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0846:Aak1
|
UTSW |
6 |
86,936,071 (GRCm39) |
intron |
probably benign |
|
|
R1074:Aak1
|
UTSW |
6 |
86,912,421 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1141:Aak1
|
UTSW |
6 |
86,942,458 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1261:Aak1
|
UTSW |
6 |
86,912,470 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1262:Aak1
|
UTSW |
6 |
86,912,470 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1470:Aak1
|
UTSW |
6 |
86,944,337 (GRCm39) |
missense |
unknown |
|
|
R1470:Aak1
|
UTSW |
6 |
86,944,337 (GRCm39) |
missense |
unknown |
|
|
R1931:Aak1
|
UTSW |
6 |
86,933,318 (GRCm39) |
missense |
unknown |
|
|
R3713:Aak1
|
UTSW |
6 |
86,932,172 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3785:Aak1
|
UTSW |
6 |
86,942,560 (GRCm39) |
missense |
unknown |
|
|
R3815:Aak1
|
UTSW |
6 |
86,936,024 (GRCm39) |
intron |
probably benign |
|
|
R3816:Aak1
|
UTSW |
6 |
86,936,024 (GRCm39) |
intron |
probably benign |
|
|
R3819:Aak1
|
UTSW |
6 |
86,936,024 (GRCm39) |
intron |
probably benign |
|
|
R4165:Aak1
|
UTSW |
6 |
86,827,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4166:Aak1
|
UTSW |
6 |
86,827,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4351:Aak1
|
UTSW |
6 |
86,912,519 (GRCm39) |
splice site |
probably null |
|
|
R4430:Aak1
|
UTSW |
6 |
86,963,348 (GRCm39) |
missense |
unknown |
|
|
R4431:Aak1
|
UTSW |
6 |
86,963,300 (GRCm39) |
missense |
unknown |
|
|
R4665:Aak1
|
UTSW |
6 |
86,902,059 (GRCm39) |
missense |
probably null |
1.00 |
|
R4821:Aak1
|
UTSW |
6 |
86,827,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Aak1
|
UTSW |
6 |
86,921,462 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5543:Aak1
|
UTSW |
6 |
86,959,627 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5567:Aak1
|
UTSW |
6 |
86,932,150 (GRCm39) |
nonsense |
probably null |
|
|
R5726:Aak1
|
UTSW |
6 |
86,902,106 (GRCm39) |
nonsense |
probably null |
|
|
R6083:Aak1
|
UTSW |
6 |
86,940,978 (GRCm39) |
missense |
unknown |
|
|
R6269:Aak1
|
UTSW |
6 |
86,941,033 (GRCm39) |
missense |
unknown |
|
|
R6693:Aak1
|
UTSW |
6 |
86,942,497 (GRCm39) |
missense |
unknown |
|
|
R6700:Aak1
|
UTSW |
6 |
86,941,185 (GRCm39) |
missense |
unknown |
|
|
R6759:Aak1
|
UTSW |
6 |
86,921,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Aak1
|
UTSW |
6 |
86,958,317 (GRCm39) |
missense |
unknown |
|
|
R8298:Aak1
|
UTSW |
6 |
86,902,061 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8342:Aak1
|
UTSW |
6 |
86,963,321 (GRCm39) |
missense |
unknown |
|
|
R8515:Aak1
|
UTSW |
6 |
86,902,112 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8560:Aak1
|
UTSW |
6 |
86,958,374 (GRCm39) |
missense |
unknown |
|
|
R8943:Aak1
|
UTSW |
6 |
86,964,234 (GRCm39) |
missense |
unknown |
|
|
R8966:Aak1
|
UTSW |
6 |
86,964,234 (GRCm39) |
missense |
unknown |
|
|
R9072:Aak1
|
UTSW |
6 |
86,921,374 (GRCm39) |
nonsense |
probably null |
|
|
R9073:Aak1
|
UTSW |
6 |
86,921,374 (GRCm39) |
nonsense |
probably null |
|
|
R9254:Aak1
|
UTSW |
6 |
86,914,049 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9439:Aak1
|
UTSW |
6 |
86,933,274 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9607:Aak1
|
UTSW |
6 |
86,914,068 (GRCm39) |
critical splice donor site |
probably null |
|
|
Y4335:Aak1
|
UTSW |
6 |
86,936,124 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGCAAGATTTCCTGAGAGCTG -3'
(R):5'- GTGCTGACCTTTCCCAAGCATATCC -3'
Sequencing Primer
(F):5'- CAAGATTTCCTGAGAGCTGAAGTG -3'
(R):5'- TGACTTGCAGCCAAGAAGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation