Incidental Mutation 'R0382:Aak1'
| ID |
31012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aak1
|
| Ensembl Gene |
ENSMUSG00000057230 |
| Gene Name |
AP2 associated kinase 1 |
| Synonyms |
D6Ertd245e, 5530400K14Rik |
| MMRRC Submission |
038588-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R0382 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
86826499-86980205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86923901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 266
(Q266L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003710]
[ENSMUST00000089519]
|
| AlphaFold |
Q3UHJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003710
AA Change: Q266L
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: Q266L
| 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 |
probably benign
Transcript: ENSMUST00000089519
AA Change: Q266L
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: Q266L
| 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: ENSMUST00000113668
|
| SMART Domains |
Protein: ENSMUSP00000109298
Gene: ENSMUSG00000057230
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
46 |
310 |
3.5e-28 |
PFAM |
|
Pfam:Pkinase
|
46 |
312 |
1.7e-43 |
PFAM |
|
Pfam:Kinase-like
|
126 |
301 |
1.6e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.3167 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
| Validation Efficiency |
98% (58/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,586,650 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
T |
C |
11: 80,069,211 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,545 (GRCm39) |
R662G |
possibly damaging |
Het |
| Celsr3 |
C |
A |
9: 108,706,417 (GRCm39) |
P967T |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,802,680 (GRCm39) |
|
probably benign |
Het |
| Ckm |
T |
C |
7: 19,155,309 (GRCm39) |
*382Q |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,315,403 (GRCm39) |
V73A |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,256 (GRCm39) |
V1944E |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,632,754 (GRCm39) |
D1473V |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,435,342 (GRCm39) |
M172T |
probably benign |
Het |
| Dcaf12 |
T |
C |
4: 41,302,672 (GRCm39) |
N161S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,019,822 (GRCm39) |
Y75C |
probably damaging |
Het |
| Efcab7 |
T |
C |
4: 99,758,966 (GRCm39) |
V388A |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,871,052 (GRCm39) |
C3780R |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,458,021 (GRCm39) |
*401R |
probably null |
Het |
| Fbxo5 |
G |
T |
10: 5,751,176 (GRCm39) |
Y270* |
probably null |
Het |
| Fnbp1l |
A |
T |
3: 122,364,602 (GRCm39) |
|
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,613,141 (GRCm39) |
S3P |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,001,080 (GRCm39) |
D309G |
probably damaging |
Het |
| Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,478,669 (GRCm39) |
D192G |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,444,631 (GRCm39) |
S1080P |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,536,971 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
A |
G |
15: 88,869,796 (GRCm39) |
Y59C |
possibly damaging |
Het |
| Natd1 |
C |
T |
11: 60,797,739 (GRCm39) |
R62H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,931,132 (GRCm39) |
T5835A |
probably damaging |
Het |
| Or4c31 |
A |
T |
2: 88,292,069 (GRCm39) |
R147S |
possibly damaging |
Het |
| Or5j3 |
A |
G |
2: 86,128,937 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or6c66b |
T |
C |
10: 129,376,883 (GRCm39) |
I159T |
probably benign |
Het |
| Or7a38 |
T |
A |
10: 78,752,960 (GRCm39) |
Y95* |
probably null |
Het |
| P2rx2 |
T |
A |
5: 110,489,045 (GRCm39) |
E289V |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,902,596 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,080,591 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
C |
T |
3: 36,235,118 (GRCm39) |
C253Y |
possibly damaging |
Het |
| Rad21l |
A |
T |
2: 151,487,363 (GRCm39) |
D540E |
probably damaging |
Het |
| Rbm45 |
T |
A |
2: 76,200,555 (GRCm39) |
I28N |
possibly damaging |
Het |
| Rnf170 |
A |
T |
8: 26,615,927 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
G |
A |
15: 80,892,515 (GRCm39) |
W280* |
probably null |
Het |
| Slc9a9 |
A |
T |
9: 94,567,270 (GRCm39) |
H113L |
probably benign |
Het |
| Slc9b2 |
G |
T |
3: 135,024,183 (GRCm39) |
C78F |
probably damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,920,360 (GRCm39) |
|
noncoding transcript |
Het |
| Slfn8 |
T |
A |
11: 82,895,382 (GRCm39) |
I475F |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,656,319 (GRCm39) |
|
probably benign |
Het |
| Strbp |
A |
T |
2: 37,490,838 (GRCm39) |
N472K |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tmem39a |
A |
G |
16: 38,411,760 (GRCm39) |
|
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,478,150 (GRCm39) |
L664P |
probably damaging |
Het |
| Uap1 |
T |
A |
1: 169,989,051 (GRCm39) |
M124L |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,348,529 (GRCm39) |
N536S |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,619,848 (GRCm39) |
I155F |
probably damaging |
Het |
| Utp4 |
T |
C |
8: 107,649,567 (GRCm39) |
I672T |
probably benign |
Het |
| Vmn1r94 |
A |
T |
7: 19,901,578 (GRCm39) |
M242K |
possibly damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,486,098 (GRCm39) |
N397H |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,463 (GRCm39) |
Y395C |
probably damaging |
Het |
| Vps41 |
C |
A |
13: 19,011,897 (GRCm39) |
H335N |
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 |
|
|
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 |
|
|
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'- CATGTTGTGCCAGTGCTTGTCATTC -3'
(R):5'- AACACTGCCGTGCTACCACTATTC -3'
Sequencing Primer
(F):5'- TGACTCAGATGCTAGATTGTCAG -3'
(R):5'- GTGCTACCACTATTCAACAGTATCAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation