Incidental Mutation 'R8943:Aak1'
| ID |
681093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aak1
|
| Ensembl Gene |
ENSMUSG00000057230 |
| Gene Name |
AP2 associated kinase 1 |
| Synonyms |
D6Ertd245e, 5530400K14Rik |
| MMRRC Submission |
068782-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.476)
|
| Stock # |
R8943 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
86826499-86980205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86964234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 945
(N945S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003710]
[ENSMUST00000089519]
|
| AlphaFold |
Q3UHJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000003710
AA Change: N864S
|
| SMART Domains |
Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: N864S
| 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: N945S
|
| SMART Domains |
Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: N945S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (50/51) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,275,667 (GRCm39) |
S457P |
probably damaging |
Het |
| Actr1a |
C |
A |
19: 46,369,438 (GRCm39) |
R192L |
possibly damaging |
Het |
| Adgrl2 |
T |
A |
3: 148,534,119 (GRCm39) |
N1036I |
probably damaging |
Het |
| Ak5 |
A |
G |
3: 152,361,511 (GRCm39) |
V137A |
probably damaging |
Het |
| Aldh1a2 |
T |
C |
9: 71,169,055 (GRCm39) |
V179A |
probably damaging |
Het |
| Ap2b1 |
A |
T |
11: 83,237,579 (GRCm39) |
I548F |
probably damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,292,550 (GRCm39) |
Y352H |
probably damaging |
Het |
| Atad5 |
C |
T |
11: 79,986,524 (GRCm39) |
T537M |
possibly damaging |
Het |
| Atoh7 |
A |
G |
10: 62,935,938 (GRCm39) |
K2E |
possibly damaging |
Het |
| BC061237 |
A |
G |
14: 44,741,658 (GRCm39) |
I134V |
probably benign |
Het |
| Cadm1 |
T |
C |
9: 47,701,136 (GRCm39) |
I141T |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,871,454 (GRCm39) |
S351P |
probably damaging |
Het |
| Cct6b |
T |
C |
11: 82,654,959 (GRCm39) |
|
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,011,330 (GRCm39) |
T284A |
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,432,253 (GRCm39) |
Y47C |
probably damaging |
Het |
| Cldn18 |
T |
C |
9: 99,578,162 (GRCm39) |
M194V |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,652,777 (GRCm39) |
Y721N |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,721,372 (GRCm39) |
Q1880R |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,599,646 (GRCm39) |
N311S |
possibly damaging |
Het |
| Dpysl5 |
G |
T |
5: 30,935,375 (GRCm39) |
M159I |
probably benign |
Het |
| Eif2b3 |
G |
A |
4: 116,901,778 (GRCm39) |
G147E |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,597,796 (GRCm39) |
D531G |
probably benign |
Het |
| Fndc3b |
T |
C |
3: 27,555,329 (GRCm39) |
|
probably benign |
Het |
| Foxe3 |
C |
A |
4: 114,782,523 (GRCm39) |
A230S |
unknown |
Het |
| Gm5591 |
A |
T |
7: 38,219,727 (GRCm39) |
V382E |
probably benign |
Het |
| Gm7995 |
A |
T |
14: 42,132,228 (GRCm39) |
N21I |
probably damaging |
Het |
| Ipo8 |
G |
A |
6: 148,676,547 (GRCm39) |
P981S |
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,104,486 (GRCm39) |
D161G |
probably benign |
Het |
| Krt71 |
A |
G |
15: 101,645,180 (GRCm39) |
I377T |
possibly damaging |
Het |
| Krt75 |
A |
T |
15: 101,476,767 (GRCm39) |
M374K |
probably benign |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lpcat1 |
A |
G |
13: 73,662,029 (GRCm39) |
T409A |
probably benign |
Het |
| Lrch1 |
A |
T |
14: 75,032,808 (GRCm39) |
I514K |
probably benign |
Het |
| Mc4r |
A |
C |
18: 66,993,110 (GRCm39) |
M1R |
probably null |
Het |
| Mthfd1l |
A |
T |
10: 3,978,466 (GRCm39) |
H442L |
probably damaging |
Het |
| Or5d38 |
T |
A |
2: 87,954,718 (GRCm39) |
I204F |
probably damaging |
Het |
| Pdcd1lg2 |
T |
C |
19: 29,423,553 (GRCm39) |
M199T |
probably benign |
Het |
| Pigg |
G |
A |
5: 108,484,066 (GRCm39) |
V438M |
probably damaging |
Het |
| Pira12 |
T |
C |
7: 3,898,365 (GRCm39) |
E319G |
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,920,681 (GRCm39) |
|
probably null |
Het |
| Rbm15 |
T |
A |
3: 107,239,372 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Rhbdl1 |
A |
T |
17: 26,054,116 (GRCm39) |
V278E |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,465,669 (GRCm39) |
N4781S |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,525,206 (GRCm39) |
|
silent |
Het |
| Sfswap |
A |
G |
5: 129,581,168 (GRCm39) |
R114G |
probably damaging |
Het |
| Sohlh2 |
C |
A |
3: 55,104,282 (GRCm39) |
A258D |
possibly damaging |
Het |
| Sstr4 |
T |
A |
2: 148,237,782 (GRCm39) |
V131D |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 36,834,861 (GRCm39) |
T45A |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,831,479 (GRCm39) |
F818I |
probably damaging |
Het |
| Trappc6b |
A |
G |
12: 59,097,149 (GRCm39) |
F58L |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,035,418 (GRCm39) |
H221L |
possibly damaging |
Het |
| Vmn1r33 |
T |
A |
6: 66,588,783 (GRCm39) |
Y257F |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,993,231 (GRCm39) |
|
probably benign |
Het |
| Zfp446 |
C |
T |
7: 12,713,564 (GRCm39) |
Q177* |
probably null |
Het |
| Zup1 |
A |
G |
10: 33,795,301 (GRCm39) |
*552Q |
probably null |
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 |
|
R8560:Aak1
|
UTSW |
6 |
86,958,374 (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'- TGGAACCAGCAGCATCTCTG -3'
(R):5'- TCATTTCTATAGGAGAAGGCAAGGG -3'
Sequencing Primer
(F):5'- AGCGCGGTGGTTATATTTAGAAATC -3'
(R):5'- TTCTATAGGAGAAGGCAAGGGGTAGG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation