Incidental Mutation 'R6269:Aak1'
| ID |
507215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aak1
|
| Ensembl Gene |
ENSMUSG00000057230 |
| Gene Name |
AP2 associated kinase 1 |
| Synonyms |
D6Ertd245e, 5530400K14Rik |
| MMRRC Submission |
044440-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.476)
|
| Stock # |
R6269 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
86826499-86980205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86941033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 609
(I609N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003710]
[ENSMUST00000089519]
|
| AlphaFold |
Q3UHJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000003710
AA Change: I528N
|
| SMART Domains |
Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: I528N
| 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: I609N
|
| SMART Domains |
Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: I609N
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano10 |
A |
T |
9: 122,090,308 (GRCm39) |
I277N |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,237,499 (GRCm39) |
D483G |
probably damaging |
Het |
| As3mt |
T |
A |
19: 46,708,391 (GRCm39) |
F226Y |
probably damaging |
Het |
| Atp10a |
G |
A |
7: 58,453,487 (GRCm39) |
R855H |
possibly damaging |
Het |
| Bin3 |
T |
A |
14: 70,374,611 (GRCm39) |
H213Q |
probably benign |
Het |
| Bora |
T |
C |
14: 99,311,103 (GRCm39) |
C512R |
probably damaging |
Het |
| Camk2b |
T |
A |
11: 5,928,497 (GRCm39) |
D414V |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,122,179 (GRCm39) |
L233Q |
unknown |
Het |
| Ccdc73 |
T |
C |
2: 104,737,978 (GRCm39) |
S25P |
probably damaging |
Het |
| Cenpf |
G |
A |
1: 189,392,117 (GRCm39) |
H572Y |
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,111,487 (GRCm39) |
V209A |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,728,524 (GRCm39) |
V650A |
probably benign |
Het |
| Cox6a2 |
T |
A |
7: 127,805,437 (GRCm39) |
S11C |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,656,317 (GRCm39) |
E238G |
probably benign |
Het |
| Cyp2c23 |
T |
A |
19: 44,017,626 (GRCm39) |
M1L |
unknown |
Het |
| Cyp4a10 |
T |
A |
4: 115,381,509 (GRCm39) |
M191K |
probably damaging |
Het |
| Cyp4a14 |
A |
G |
4: 115,348,328 (GRCm39) |
V383A |
possibly damaging |
Het |
| D130052B06Rik |
T |
G |
11: 33,573,916 (GRCm39) |
V171G |
possibly damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,872,369 (GRCm39) |
T617A |
probably benign |
Het |
| Dyrk4 |
T |
A |
6: 126,863,690 (GRCm39) |
I351F |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 77,991,585 (GRCm39) |
V94A |
probably benign |
Het |
| Fam111a |
A |
G |
19: 12,565,807 (GRCm39) |
T519A |
probably benign |
Het |
| Gdpd4 |
A |
G |
7: 97,623,669 (GRCm39) |
S314G |
probably damaging |
Het |
| Gm9758 |
T |
A |
5: 14,962,274 (GRCm39) |
K111N |
possibly damaging |
Het |
| Gpr137b |
A |
T |
13: 13,538,096 (GRCm39) |
V285E |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Itgal |
T |
A |
7: 126,929,389 (GRCm39) |
L1102Q |
probably null |
Het |
| Kctd19 |
T |
A |
8: 106,121,992 (GRCm39) |
Y185F |
possibly damaging |
Het |
| Kif5b |
A |
G |
18: 6,223,558 (GRCm39) |
L317P |
possibly damaging |
Het |
| Klhl42 |
C |
A |
6: 146,993,805 (GRCm39) |
A259E |
probably damaging |
Het |
| Lrrc2 |
A |
G |
9: 110,810,017 (GRCm39) |
D351G |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,135,243 (GRCm39) |
E797G |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,489,813 (GRCm39) |
E63G |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,379,103 (GRCm39) |
|
probably null |
Het |
| Or12e8 |
A |
T |
2: 87,677,218 (GRCm39) |
H201L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,557,295 (GRCm39) |
V627I |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,572,108 (GRCm39) |
Q498* |
probably null |
Het |
| Pdlim5 |
T |
C |
3: 142,018,086 (GRCm39) |
T170A |
possibly damaging |
Het |
| Pgap1 |
A |
T |
1: 54,587,167 (GRCm39) |
Y136* |
probably null |
Het |
| Pgghg |
T |
A |
7: 140,526,097 (GRCm39) |
N563K |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,044,916 (GRCm39) |
M1143T |
probably benign |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Prc1 |
G |
A |
7: 79,959,175 (GRCm39) |
R381Q |
probably damaging |
Het |
| Psph |
A |
T |
5: 129,843,529 (GRCm39) |
I175N |
probably damaging |
Het |
| Rbbp8nl |
T |
A |
2: 179,923,305 (GRCm39) |
K131* |
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sde2 |
G |
A |
1: 180,683,371 (GRCm39) |
V42I |
probably benign |
Het |
| Slc25a3 |
G |
A |
10: 90,952,963 (GRCm39) |
R314* |
probably null |
Het |
| Spag9 |
A |
G |
11: 93,935,333 (GRCm39) |
N48S |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,302,757 (GRCm39) |
M351T |
possibly damaging |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,604,342 (GRCm39) |
L679P |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,944 (GRCm39) |
N815K |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,509,557 (GRCm39) |
Q54L |
possibly damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,036 (GRCm39) |
I125K |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,566,679 (GRCm39) |
Y732H |
probably damaging |
Het |
| Zfp131 |
A |
G |
13: 120,227,941 (GRCm39) |
S603P |
possibly damaging |
Het |
| Zfp28 |
G |
T |
7: 6,396,612 (GRCm39) |
S349I |
probably benign |
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 |
|
|
R1221:Aak1
|
UTSW |
6 |
86,942,460 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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'- AGTCTCTGTTGCAGCTCAGG -3'
(R):5'- TATTGAGACTGGCCTCAGCTG -3'
Sequencing Primer
(F):5'- TGGCTTTGGTAACCTTAGCC -3'
(R):5'- CACTGAGAATCCGTCTGT -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation