Incidental Mutation 'R5543:Aak1'
ID |
436095 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aak1
|
Ensembl Gene |
ENSMUSG00000057230 |
Gene Name |
AP2 associated kinase 1 |
Synonyms |
D6Ertd245e, 5530400K14Rik |
MMRRC Submission |
043101-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.476)
|
Stock # |
R5543 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
86826499-86980205 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 86959627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086948
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003710]
[ENSMUST00000089519]
|
AlphaFold |
Q3UHJ0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000003710
|
SMART Domains |
Protein: ENSMUSP00000003710 Gene: ENSMUSG00000057230
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 null
Transcript: ENSMUST00000089519
|
SMART Domains |
Protein: ENSMUSP00000086948 Gene: ENSMUSG00000057230
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: ENSMUST00000203647
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204613
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
C |
A |
7: 127,836,353 (GRCm39) |
S80I |
probably benign |
Het |
Abcc6 |
A |
G |
7: 45,638,960 (GRCm39) |
|
probably null |
Het |
Acvr1 |
A |
G |
2: 58,353,157 (GRCm39) |
S268P |
probably damaging |
Het |
Apod |
T |
C |
16: 31,122,351 (GRCm39) |
|
probably null |
Het |
Atp5po |
T |
C |
16: 91,723,418 (GRCm39) |
I58V |
probably benign |
Het |
AU040320 |
C |
T |
4: 126,735,017 (GRCm39) |
T777M |
probably damaging |
Het |
Ccne2 |
A |
T |
4: 11,194,026 (GRCm39) |
N89I |
probably benign |
Het |
Cspg4b |
C |
A |
13: 113,457,407 (GRCm39) |
T1151K |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,543,228 (GRCm39) |
V2314A |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,595,808 (GRCm39) |
S1881P |
probably damaging |
Het |
E4f1 |
A |
G |
17: 24,666,336 (GRCm39) |
V24A |
possibly damaging |
Het |
Esrrg |
A |
T |
1: 187,882,451 (GRCm39) |
D236V |
probably damaging |
Het |
Fam240b |
T |
A |
13: 64,633,736 (GRCm39) |
I27F |
possibly damaging |
Het |
Fat1 |
T |
A |
8: 45,476,516 (GRCm39) |
I1854N |
probably damaging |
Het |
Fchsd2 |
T |
C |
7: 100,920,906 (GRCm39) |
Y480H |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,676,394 (GRCm39) |
N47S |
probably benign |
Het |
Gabrr3 |
T |
C |
16: 59,253,870 (GRCm39) |
S196P |
probably damaging |
Het |
Gbp8 |
T |
A |
5: 105,165,696 (GRCm39) |
D319V |
possibly damaging |
Het |
Hrh3 |
G |
T |
2: 179,745,763 (GRCm39) |
A61E |
probably damaging |
Het |
Idua |
T |
C |
5: 108,818,095 (GRCm39) |
I89T |
probably benign |
Het |
Ifitm3 |
T |
A |
7: 140,589,730 (GRCm39) |
I108F |
unknown |
Het |
Izumo4 |
T |
C |
10: 80,538,668 (GRCm39) |
F40S |
probably damaging |
Het |
Kifc2 |
A |
G |
15: 76,551,242 (GRCm39) |
R679G |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Ldha |
A |
T |
7: 46,500,314 (GRCm39) |
I171F |
possibly damaging |
Het |
Lrfn4 |
T |
C |
19: 4,662,191 (GRCm39) |
S609G |
probably benign |
Het |
Mmp15 |
T |
C |
8: 96,094,729 (GRCm39) |
F201S |
possibly damaging |
Het |
Myof |
C |
T |
19: 37,969,778 (GRCm39) |
V295I |
probably benign |
Het |
Or1n2 |
C |
T |
2: 36,797,369 (GRCm39) |
T137I |
possibly damaging |
Het |
Or2z2 |
T |
A |
11: 58,345,993 (GRCm39) |
M261L |
probably damaging |
Het |
Or5m12 |
G |
T |
2: 85,734,672 (GRCm39) |
A242D |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,655,137 (GRCm39) |
D1778G |
probably benign |
Het |
Pcnt |
A |
T |
10: 76,247,886 (GRCm39) |
D969E |
probably benign |
Het |
Pibf1 |
A |
T |
14: 99,350,428 (GRCm39) |
N192I |
probably benign |
Het |
Pitpnm3 |
A |
G |
11: 71,947,023 (GRCm39) |
F792S |
probably damaging |
Het |
Pkd2 |
T |
A |
5: 104,637,199 (GRCm39) |
I604N |
probably damaging |
Het |
Pla2g15 |
T |
C |
8: 106,887,775 (GRCm39) |
Y188H |
probably damaging |
Het |
Plxnc1 |
G |
T |
10: 94,700,636 (GRCm39) |
D643E |
probably benign |
Het |
Prrc2c |
G |
A |
1: 162,501,080 (GRCm39) |
P1241L |
probably damaging |
Het |
Ptprd |
T |
C |
4: 75,977,990 (GRCm39) |
E173G |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,416,557 (GRCm39) |
V232A |
probably damaging |
Het |
Shbg |
A |
G |
11: 69,507,564 (GRCm39) |
I171T |
probably damaging |
Het |
Slc22a14 |
A |
T |
9: 119,002,674 (GRCm39) |
F404L |
probably benign |
Het |
Slc37a3 |
C |
A |
6: 39,331,960 (GRCm39) |
G158C |
probably damaging |
Het |
Slfn9 |
C |
A |
11: 82,873,207 (GRCm39) |
L565F |
probably damaging |
Het |
Spmip10 |
G |
A |
18: 56,727,760 (GRCm39) |
|
probably benign |
Het |
Trank1 |
T |
A |
9: 111,195,180 (GRCm39) |
M1068K |
probably damaging |
Het |
Trbv15 |
A |
T |
6: 41,118,187 (GRCm39) |
I15L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,569,918 (GRCm39) |
V26992M |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ugt2b34 |
T |
A |
5: 87,054,560 (GRCm39) |
I74F |
probably damaging |
Het |
Vamp3 |
A |
G |
4: 151,135,477 (GRCm39) |
L47P |
probably damaging |
Het |
Zfp143 |
T |
A |
7: 109,682,522 (GRCm39) |
C363* |
probably null |
Het |
Zfp438 |
T |
C |
18: 5,213,761 (GRCm39) |
E399G |
probably 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 |
|
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 |
|
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'- GGTTTTCCTGAGTAGCCTCTGAC -3'
(R):5'- AATTCTGTAATCAGGGCGAGCC -3'
Sequencing Primer
(F):5'- GAGTAGCCTCTGACTTCTTCC -3'
(R):5'- CGAGCCCAGGAGTCATTCTTAAG -3'
|
Posted On |
2016-10-24 |