Incidental Mutation 'IGL01284:Aak1'
ID |
72659 |
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 # |
IGL01284
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
86826499-86980205 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 86827035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003710]
[ENSMUST00000089519]
[ENSMUST00000204414]
|
AlphaFold |
Q3UHJ0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003710
AA Change: M1L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000003710 Gene: ENSMUSG00000057230 AA Change: M1L
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 |
possibly damaging
Transcript: ENSMUST00000089519
AA Change: M1L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000086948 Gene: ENSMUSG00000057230 AA Change: M1L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156885
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185414
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204414
AA Change: M1L
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000145013 Gene: ENSMUSG00000057230 AA Change: M1L
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
PDB:4C59|A
|
34 |
110 |
2e-8 |
PDB |
Blast:S_TKc
|
48 |
110 |
1e-6 |
BLAST |
SCOP:d1f3mc_
|
50 |
109 |
2e-10 |
SMART |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agr2 |
A |
G |
12: 36,045,580 (GRCm39) |
D22G |
possibly damaging |
Het |
C9orf72 |
A |
T |
4: 35,218,808 (GRCm39) |
I17N |
probably damaging |
Het |
Cck |
G |
T |
9: 121,319,236 (GRCm39) |
N82K |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,301,876 (GRCm39) |
I402N |
possibly damaging |
Het |
Cfap157 |
T |
C |
2: 32,671,491 (GRCm39) |
D105G |
possibly damaging |
Het |
Dhx9 |
C |
A |
1: 153,340,644 (GRCm39) |
L665F |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,196,265 (GRCm39) |
E1621G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,203,009 (GRCm39) |
Y713C |
probably damaging |
Het |
Fbp2 |
T |
C |
13: 62,988,099 (GRCm39) |
S271G |
probably benign |
Het |
Gp5 |
G |
T |
16: 30,128,028 (GRCm39) |
S215R |
probably benign |
Het |
Kpnb1 |
A |
G |
11: 97,056,928 (GRCm39) |
M647T |
probably damaging |
Het |
Masp2 |
A |
G |
4: 148,698,464 (GRCm39) |
E515G |
probably damaging |
Het |
Mfge8 |
A |
G |
7: 78,786,530 (GRCm39) |
S290P |
probably damaging |
Het |
Negr1 |
C |
T |
3: 156,851,854 (GRCm39) |
P219S |
probably damaging |
Het |
Nkx2-6 |
T |
C |
14: 69,409,326 (GRCm39) |
S26P |
probably benign |
Het |
Or10a49 |
C |
T |
7: 108,467,482 (GRCm39) |
R293K |
possibly damaging |
Het |
Pdzd9 |
A |
C |
7: 120,259,494 (GRCm39) |
Y165D |
possibly damaging |
Het |
Pik3ca |
C |
T |
3: 32,516,733 (GRCm39) |
A987V |
probably damaging |
Het |
Pomp |
T |
A |
5: 147,797,491 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
A |
G |
5: 28,615,707 (GRCm39) |
T17A |
probably damaging |
Het |
Skic2 |
T |
C |
17: 35,058,664 (GRCm39) |
|
probably benign |
Het |
Slc4a4 |
G |
A |
5: 89,277,532 (GRCm39) |
A334T |
probably benign |
Het |
Tecta |
A |
G |
9: 42,256,916 (GRCm39) |
F1587L |
probably damaging |
Het |
Tex29 |
C |
A |
8: 11,894,231 (GRCm39) |
Y46* |
probably null |
Het |
Tgm5 |
A |
G |
2: 120,883,028 (GRCm39) |
S410P |
possibly damaging |
Het |
Tmtc2 |
A |
G |
10: 105,107,372 (GRCm39) |
Y714H |
possibly damaging |
Het |
Tubgcp6 |
C |
T |
15: 88,994,258 (GRCm39) |
R468Q |
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 |
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 |
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 |
2013-10-07 |