Incidental Mutation 'IGL02531:Aak1'
| ID |
297324 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aak1
|
| Ensembl Gene |
ENSMUSG00000057230 |
| Gene Name |
AP2 associated kinase 1 |
| Synonyms |
D6Ertd245e, 5530400K14Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
IGL02531
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
86826499-86980205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86933429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 467
(H467N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003710]
[ENSMUST00000089519]
|
| AlphaFold |
Q3UHJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000003710
AA Change: H467N
|
| SMART Domains |
Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: H467N
| 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: H467N
|
| SMART Domains |
Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: H467N
| 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: ENSMUST00000204613
|
| Coding Region Coverage |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alb |
A |
G |
5: 90,615,307 (GRCm39) |
D273G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,122,804 (GRCm39) |
S531P |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,884,873 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,702,307 (GRCm39) |
K59R |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,854,134 (GRCm39) |
R1902H |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2b13 |
A |
T |
7: 25,761,030 (GRCm39) |
H29L |
possibly damaging |
Het |
| Enpp5 |
G |
T |
17: 44,391,843 (GRCm39) |
V91F |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,194,675 (GRCm39) |
Y176H |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,282 (GRCm39) |
E607G |
possibly damaging |
Het |
| Hhla1 |
C |
T |
15: 65,839,256 (GRCm39) |
|
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,928,782 (GRCm39) |
T178A |
probably benign |
Het |
| Klf1 |
T |
A |
8: 85,631,437 (GRCm39) |
F334I |
probably damaging |
Het |
| Klra8 |
A |
G |
6: 130,095,933 (GRCm39) |
S220P |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,616 (GRCm39) |
N99S |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,216,853 (GRCm39) |
T2607A |
possibly damaging |
Het |
| Mug2 |
T |
G |
6: 122,049,730 (GRCm39) |
L921R |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,548,580 (GRCm39) |
N1385D |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,067,706 (GRCm39) |
F1983L |
probably benign |
Het |
| Nipal4 |
T |
C |
11: 46,042,152 (GRCm39) |
I176M |
probably damaging |
Het |
| Orc6 |
T |
C |
8: 86,029,998 (GRCm39) |
S47P |
probably damaging |
Het |
| Ovch2 |
C |
T |
7: 107,389,405 (GRCm39) |
C341Y |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,882,736 (GRCm39) |
H1633Q |
possibly damaging |
Het |
| Rab23 |
T |
C |
1: 33,777,361 (GRCm39) |
|
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,868 (GRCm39) |
S697P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,327,628 (GRCm39) |
F1872L |
probably benign |
Het |
| Sdhc |
T |
C |
1: 170,963,587 (GRCm39) |
H127R |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,942,095 (GRCm39) |
V74A |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,875,748 (GRCm39) |
S596P |
possibly damaging |
Het |
| Syt14 |
T |
C |
1: 192,584,242 (GRCm39) |
*78W |
probably null |
Het |
| Thoc1 |
A |
G |
18: 9,970,258 (GRCm39) |
T203A |
probably benign |
Het |
| Trmt13 |
A |
G |
3: 116,385,840 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,373,716 (GRCm39) |
I1020V |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,134 (GRCm39) |
T336A |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation