Incidental Mutation 'R8515:Aak1'
| ID |
656080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aak1
|
| Ensembl Gene |
ENSMUSG00000057230 |
| Gene Name |
AP2 associated kinase 1 |
| Synonyms |
D6Ertd245e, 5530400K14Rik |
| MMRRC Submission |
067847-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R8515 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
86826499-86980205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86902112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 94
(M94V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003710]
[ENSMUST00000089519]
[ENSMUST00000204414]
|
| AlphaFold |
Q3UHJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003710
AA Change: M94V
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: M94V
| 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: M94V
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: M94V
| 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 |
possibly damaging
Transcript: ENSMUST00000204414
AA Change: M94V
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145013
Gene: ENSMUSG00000057230
AA Change: M94V
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,784,524 (GRCm39) |
I566T |
possibly damaging |
Het |
| Adcy3 |
T |
C |
12: 4,262,187 (GRCm39) |
V1080A |
probably damaging |
Het |
| Aldh1b1 |
C |
T |
4: 45,803,818 (GRCm39) |
T452I |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,946,064 (GRCm39) |
S2392T |
possibly damaging |
Het |
| Ccnb2 |
A |
G |
9: 70,320,382 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
T |
A |
6: 122,980,982 (GRCm39) |
Y72N |
probably benign |
Het |
| Clk4 |
G |
A |
11: 51,166,088 (GRCm39) |
R198Q |
probably damaging |
Het |
| Coro2a |
ACCAGAAGAGCCATCCAG |
ACCAG |
4: 46,544,117 (GRCm39) |
|
probably null |
Het |
| Ctbs |
T |
A |
3: 146,164,568 (GRCm39) |
Y240* |
probably null |
Het |
| Cyp2d22 |
T |
C |
15: 82,258,113 (GRCm39) |
D169G |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 117,939,533 (GRCm39) |
V3196I |
probably damaging |
Het |
| Fam110b |
T |
C |
4: 5,799,380 (GRCm39) |
V266A |
probably benign |
Het |
| Fbxo40 |
A |
G |
16: 36,791,015 (GRCm39) |
S32P |
probably damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,043 (GRCm39) |
H705L |
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,720,170 (GRCm39) |
Y702* |
probably null |
Het |
| Hao2 |
A |
T |
3: 98,790,963 (GRCm39) |
N70K |
probably benign |
Het |
| Heatr4 |
A |
G |
12: 84,001,478 (GRCm39) |
I888T |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,151,565 (GRCm39) |
N935K |
probably benign |
Het |
| Kdm3b |
G |
T |
18: 34,926,129 (GRCm39) |
A90S |
probably benign |
Het |
| Kif3b |
C |
T |
2: 153,158,427 (GRCm39) |
T76M |
probably damaging |
Het |
| Kmo |
A |
T |
1: 175,474,718 (GRCm39) |
H134L |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,544,688 (GRCm39) |
Q344K |
probably null |
Het |
| Man2a2 |
A |
T |
7: 80,018,038 (GRCm39) |
F211I |
possibly damaging |
Het |
| Mmp19 |
T |
C |
10: 128,631,471 (GRCm39) |
I189T |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,629 (GRCm39) |
G1710S |
unknown |
Het |
| Myo15b |
G |
A |
11: 115,749,610 (GRCm39) |
G127S |
|
Het |
| Naca |
T |
C |
10: 127,880,112 (GRCm39) |
S1715P |
possibly damaging |
Het |
| Ndufs4 |
T |
C |
13: 114,425,339 (GRCm39) |
N163S |
probably damaging |
Het |
| Nim1k |
G |
A |
13: 120,173,986 (GRCm39) |
R303* |
probably null |
Het |
| Nkx6-3 |
A |
T |
8: 23,643,707 (GRCm39) |
Y36F |
possibly damaging |
Het |
| Osbpl10 |
C |
A |
9: 115,005,136 (GRCm39) |
Q188K |
probably benign |
Het |
| Pak6 |
G |
T |
2: 118,520,478 (GRCm39) |
R156S |
probably benign |
Het |
| Pcf11 |
T |
A |
7: 92,307,998 (GRCm39) |
K723N |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,009,490 (GRCm39) |
Y546C |
possibly damaging |
Het |
| Pik3r6 |
A |
G |
11: 68,430,783 (GRCm39) |
Y528C |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,581,844 (GRCm39) |
N57I |
probably benign |
Het |
| Preb |
A |
G |
5: 31,116,722 (GRCm39) |
L57P |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,482,232 (GRCm39) |
D425G |
probably damaging |
Het |
| Rab35 |
G |
A |
5: 115,781,467 (GRCm39) |
V90I |
probably damaging |
Het |
| Rab3gap2 |
G |
C |
1: 184,995,017 (GRCm39) |
S852T |
probably benign |
Het |
| Rcn1 |
C |
T |
2: 105,219,464 (GRCm39) |
R243Q |
probably null |
Het |
| Rom1 |
A |
G |
19: 8,906,465 (GRCm39) |
S25P |
probably damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,775 (GRCm39) |
Y286* |
probably null |
Het |
| Sis |
T |
A |
3: 72,836,742 (GRCm39) |
I837L |
probably benign |
Het |
| Ski |
T |
C |
4: 155,245,083 (GRCm39) |
S388G |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,867,921 (GRCm39) |
F16S |
probably benign |
Het |
| Slc22a21 |
T |
G |
11: 53,846,904 (GRCm39) |
D323A |
possibly damaging |
Het |
| Slc40a1 |
G |
A |
1: 45,951,467 (GRCm39) |
T230I |
probably damaging |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,124,436 (GRCm39) |
D2858V |
probably benign |
Het |
| Spdl1 |
G |
A |
11: 34,704,252 (GRCm39) |
T527I |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,658,815 (GRCm39) |
L1240Q |
probably benign |
Het |
| Tef |
T |
A |
15: 81,687,037 (GRCm39) |
V18D |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,216,280 (GRCm39) |
D155G |
probably damaging |
Het |
| Vmn1r215 |
A |
G |
13: 23,260,037 (GRCm39) |
I26V |
probably benign |
Het |
| Wac |
A |
G |
18: 7,871,606 (GRCm39) |
M46V |
probably benign |
Het |
| Wbp1 |
C |
T |
6: 83,096,866 (GRCm39) |
G146D |
probably damaging |
Het |
| Zfand2a |
A |
C |
5: 139,459,546 (GRCm39) |
S147A |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,464,534 (GRCm39) |
Y1589F |
probably benign |
Het |
| Zfp345 |
G |
C |
2: 150,314,348 (GRCm39) |
D396E |
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 |
|
|
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'- CAACAGTAGCCAGAGTTCCTG -3'
(R):5'- CTGGACTTAACAGGTTTTAAGAGG -3'
Sequencing Primer
(F):5'- AGTAGCCAGAGTTCCTGACTGAC -3'
(R):5'- TAACAGGTTTTAAGAGGGAAAACTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation