Incidental Mutation 'R8560:Aak1'
ID |
660984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aak1
|
Ensembl Gene |
ENSMUSG00000057230 |
Gene Name |
AP2 associated kinase 1 |
Synonyms |
D6Ertd245e, 5530400K14Rik |
MMRRC Submission |
068523-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.451)
|
Stock # |
R8560 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
86826499-86980205 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86958374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 819
(V819A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086948
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003710]
[ENSMUST00000089519]
|
AlphaFold |
Q3UHJ0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000003710
AA Change: V738A
|
SMART Domains |
Protein: ENSMUSP00000003710 Gene: ENSMUSG00000057230 AA Change: V738A
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: V819A
|
SMART Domains |
Protein: ENSMUSP00000086948 Gene: ENSMUSG00000057230 AA Change: V819A
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 |
|
Meta Mutation Damage Score |
0.2433 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
98% (62/63) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
T |
C |
10: 20,835,814 (GRCm39) |
V49A |
probably benign |
Het |
BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
Ccdc87 |
C |
T |
19: 4,891,901 (GRCm39) |
R798W |
probably damaging |
Het |
Cd163 |
T |
C |
6: 124,294,360 (GRCm39) |
L506S |
possibly damaging |
Het |
Chsy3 |
T |
C |
18: 59,543,130 (GRCm39) |
V756A |
possibly damaging |
Het |
Cisd3 |
G |
T |
11: 97,576,689 (GRCm39) |
W5L |
possibly damaging |
Het |
Coro1c |
A |
T |
5: 113,984,249 (GRCm39) |
H339Q |
probably damaging |
Het |
Cybc1 |
G |
T |
11: 121,115,041 (GRCm39) |
A154D |
probably damaging |
Het |
D630045J12Rik |
T |
A |
6: 38,126,649 (GRCm39) |
I1454F |
probably damaging |
Het |
Dab2ip |
T |
C |
2: 35,603,144 (GRCm39) |
S448P |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,533,898 (GRCm39) |
|
probably null |
Het |
Depdc1a |
A |
G |
3: 159,219,912 (GRCm39) |
K139E |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,714,132 (GRCm39) |
K1874R |
probably benign |
Het |
Dst |
A |
G |
1: 34,307,970 (GRCm39) |
H4229R |
probably damaging |
Het |
Esyt3 |
T |
C |
9: 99,202,375 (GRCm39) |
D512G |
probably damaging |
Het |
Fastkd5 |
T |
A |
2: 130,457,865 (GRCm39) |
I242L |
probably benign |
Het |
Foxo3 |
G |
A |
10: 42,151,278 (GRCm39) |
T51M |
possibly damaging |
Het |
Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
Gm14410 |
C |
A |
2: 176,885,445 (GRCm39) |
C273F |
probably damaging |
Het |
Gucy1b1 |
G |
T |
3: 81,942,685 (GRCm39) |
P486T |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,265,106 (GRCm39) |
N2763S |
probably benign |
Het |
Ifna2 |
C |
A |
4: 88,601,502 (GRCm39) |
W172L |
possibly damaging |
Het |
Igkv6-29 |
T |
C |
6: 70,115,651 (GRCm39) |
N48D |
probably benign |
Het |
Il17ra |
C |
A |
6: 120,459,226 (GRCm39) |
D792E |
possibly damaging |
Het |
Kcnh5 |
G |
T |
12: 75,023,379 (GRCm39) |
A563E |
probably damaging |
Het |
Klra4 |
C |
A |
6: 130,042,235 (GRCm39) |
V11L |
probably benign |
Het |
Krt13 |
T |
C |
11: 100,009,676 (GRCm39) |
E368G |
possibly damaging |
Het |
Lrpprc |
T |
A |
17: 85,047,495 (GRCm39) |
|
probably benign |
Het |
Mal2 |
T |
C |
15: 54,461,826 (GRCm39) |
I107T |
probably benign |
Het |
Mc4r |
T |
C |
18: 66,992,166 (GRCm39) |
I316V |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,743,830 (GRCm39) |
V4022E |
probably benign |
Het |
Med12l |
A |
G |
3: 58,945,026 (GRCm39) |
N84D |
probably damaging |
Het |
Mx1 |
T |
G |
16: 97,253,987 (GRCm39) |
T298P |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,213,405 (GRCm39) |
E1367G |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,465,124 (GRCm39) |
E660G |
possibly damaging |
Het |
Nbeal1 |
T |
A |
1: 60,274,316 (GRCm39) |
N242K |
probably benign |
Het |
Nsun5 |
A |
G |
5: 135,404,743 (GRCm39) |
T435A |
probably benign |
Het |
Or14j4 |
C |
T |
17: 37,920,949 (GRCm39) |
S231N |
possibly damaging |
Het |
Or4q3 |
T |
A |
14: 50,583,794 (GRCm39) |
D4V |
probably benign |
Het |
Or5b109 |
T |
C |
19: 13,211,656 (GRCm39) |
L14P |
possibly damaging |
Het |
Pcdhb17 |
C |
T |
18: 37,619,206 (GRCm39) |
T332M |
possibly damaging |
Het |
Pi4k2a |
C |
T |
19: 42,089,151 (GRCm39) |
Q171* |
probably null |
Het |
Plb1 |
T |
C |
5: 32,460,023 (GRCm39) |
V421A |
possibly damaging |
Het |
Prkag2 |
TTTTTTTTTTTTA |
T |
5: 25,071,063 (GRCm39) |
|
probably benign |
Het |
Prlhr |
A |
G |
19: 60,456,635 (GRCm39) |
|
probably benign |
Het |
Prpf8 |
T |
A |
11: 75,382,600 (GRCm39) |
C435* |
probably null |
Het |
Rnf183 |
T |
A |
4: 62,346,735 (GRCm39) |
N21I |
probably damaging |
Het |
Rnf41 |
T |
A |
10: 128,274,222 (GRCm39) |
C291* |
probably null |
Het |
Shd |
T |
C |
17: 56,278,616 (GRCm39) |
S60P |
probably benign |
Het |
Slc16a5 |
A |
G |
11: 115,360,545 (GRCm39) |
T243A |
probably benign |
Het |
Slc33a1 |
A |
T |
3: 63,850,773 (GRCm39) |
I517N |
possibly damaging |
Het |
Slc4a1 |
A |
C |
11: 102,244,083 (GRCm39) |
M682R |
possibly damaging |
Het |
Sphk2 |
A |
T |
7: 45,361,514 (GRCm39) |
N245K |
probably damaging |
Het |
Stx7 |
T |
C |
10: 24,057,454 (GRCm39) |
I160T |
possibly damaging |
Het |
Thbs4 |
T |
C |
13: 92,891,608 (GRCm39) |
I836V |
probably damaging |
Het |
Tmc5 |
A |
T |
7: 118,268,514 (GRCm39) |
N861Y |
probably damaging |
Het |
Trappc5 |
T |
A |
8: 3,729,303 (GRCm39) |
W94R |
probably damaging |
Het |
Trmt44 |
T |
C |
5: 35,715,295 (GRCm39) |
I673V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,571,615 (GRCm39) |
Y26426C |
probably damaging |
Het |
Wdr81 |
C |
T |
11: 75,336,260 (GRCm39) |
G591R |
|
Het |
Zfp236 |
G |
A |
18: 82,664,340 (GRCm39) |
R482W |
probably damaging |
Het |
Zfp51 |
T |
A |
17: 21,685,635 (GRCm39) |
M750K |
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 |
|
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 |
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'- GTGAGGATTCCTAAACTGTTTTCATGG -3'
(R):5'- AGAGTTACTGGTAGTGTGCACG -3'
Sequencing Primer
(F):5'- TTCATGGAAAGCAGCAAATGATCTGC -3'
(R):5'- TTACTGGTAGTGTGCACGGGAAAG -3'
|
Posted On |
2021-03-08 |