Incidental Mutation 'R1074:Aak1'
ID |
85565 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aak1
|
Ensembl Gene |
ENSMUSG00000057230 |
Gene Name |
AP2 associated kinase 1 |
Synonyms |
D6Ertd245e, 5530400K14Rik |
MMRRC Submission |
039160-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.476)
|
Stock # |
R1074 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
86826499-86980205 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86912421 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 98
(S98P)
|
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: S98P
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000003710 Gene: ENSMUSG00000057230 AA Change: S98P
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: S98P
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000086948 Gene: ENSMUSG00000057230 AA Change: S98P
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 |
probably damaging
Transcript: ENSMUST00000204414
AA Change: S98P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000145013 Gene: ENSMUSG00000057230 AA Change: S98P
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 |
|
Meta Mutation Damage Score |
0.2354 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
97% (33/34) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Acbd3 |
C |
T |
1: 180,566,113 (GRCm39) |
Q269* |
probably null |
Het |
Ankrd6 |
T |
C |
4: 32,822,232 (GRCm39) |
H179R |
probably damaging |
Het |
Ano1 |
T |
A |
7: 144,165,417 (GRCm39) |
N603Y |
probably damaging |
Het |
Catsperg1 |
T |
C |
7: 28,906,274 (GRCm39) |
E143G |
probably damaging |
Het |
Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
Epn1 |
T |
C |
7: 5,098,047 (GRCm39) |
V286A |
probably benign |
Het |
Fam117b |
C |
T |
1: 59,997,485 (GRCm39) |
A279V |
possibly damaging |
Het |
Impg2 |
G |
A |
16: 56,085,541 (GRCm39) |
|
probably benign |
Het |
Man1a2 |
C |
T |
3: 100,563,402 (GRCm39) |
R81H |
possibly damaging |
Het |
Medag |
G |
T |
5: 149,335,674 (GRCm39) |
V78L |
probably benign |
Het |
Meioc |
C |
T |
11: 102,566,219 (GRCm39) |
H612Y |
probably damaging |
Het |
Nab2 |
G |
A |
10: 127,499,124 (GRCm39) |
Q385* |
probably null |
Het |
Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
Or10p1 |
T |
C |
10: 129,444,335 (GRCm39) |
N5S |
probably damaging |
Het |
Or2n1 |
T |
C |
17: 38,486,331 (GRCm39) |
S119P |
probably damaging |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Pcdhga1 |
A |
G |
18: 37,958,140 (GRCm39) |
|
probably benign |
Het |
Pik3c2a |
G |
A |
7: 115,950,160 (GRCm39) |
R1286* |
probably null |
Het |
Pira13 |
T |
C |
7: 3,826,069 (GRCm39) |
D308G |
probably damaging |
Het |
Plk3 |
T |
C |
4: 116,988,955 (GRCm39) |
E268G |
probably damaging |
Het |
Pzp |
T |
A |
6: 128,464,887 (GRCm39) |
N1329I |
probably benign |
Het |
Reps1 |
A |
G |
10: 17,970,194 (GRCm39) |
T264A |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,722,307 (GRCm39) |
K958E |
probably benign |
Het |
Srarp |
T |
A |
4: 141,160,707 (GRCm39) |
D42V |
probably damaging |
Het |
Srbd1 |
T |
A |
17: 86,311,380 (GRCm39) |
H679L |
probably damaging |
Het |
Tbc1d2b |
G |
A |
9: 90,104,393 (GRCm39) |
P583L |
possibly damaging |
Het |
Vmn2r22 |
T |
C |
6: 123,626,217 (GRCm39) |
D73G |
probably benign |
Het |
Zfp512b |
A |
T |
2: 181,230,972 (GRCm39) |
S374R |
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 |
|
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'- TGGAGTTGCTATTGGAGATCCCACG -3'
(R):5'- AGCATGGCCTGCGTTTGCTTTC -3'
Sequencing Primer
(F):5'- GATCCCACGAGGTTTCTCAAAG -3'
(R):5'- TTCTTCAGAGTGCAACGGAC -3'
|
Posted On |
2013-11-18 |