Incidental Mutation 'R8342:Aak1'
| ID |
644947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aak1
|
| Ensembl Gene |
ENSMUSG00000057230 |
| Gene Name |
AP2 associated kinase 1 |
| Synonyms |
D6Ertd245e, 5530400K14Rik |
| MMRRC Submission |
067731-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R8342 (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 86963321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 917
(D917G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003710]
[ENSMUST00000089519]
|
| AlphaFold |
Q3UHJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000003710
AA Change: D836G
|
| SMART Domains |
Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: D836G
| 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: D917G
|
| SMART Domains |
Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: D917G
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
T |
C |
3: 37,134,050 (GRCm39) |
S322P |
probably damaging |
Het |
| Agbl4 |
C |
T |
4: 110,976,224 (GRCm39) |
L194F |
probably damaging |
Het |
| Ahr |
C |
T |
12: 35,558,271 (GRCm39) |
G250R |
probably damaging |
Het |
| AI987944 |
A |
T |
7: 41,024,310 (GRCm39) |
I226N |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,691,619 (GRCm39) |
V1114A |
probably damaging |
Het |
| Ankrd49 |
C |
A |
9: 14,692,823 (GRCm39) |
A114S |
probably damaging |
Het |
| Arl6 |
C |
T |
16: 59,442,802 (GRCm39) |
G140D |
unknown |
Het |
| Arrdc3 |
A |
G |
13: 81,031,790 (GRCm39) |
S8G |
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,105,495 (GRCm39) |
V298E |
probably benign |
Het |
| Atp6v1b2 |
A |
G |
8: 69,554,035 (GRCm39) |
I71V |
probably benign |
Het |
| Bin1 |
A |
G |
18: 32,546,166 (GRCm39) |
M112V |
probably benign |
Het |
| Camk2b |
C |
T |
11: 5,940,383 (GRCm39) |
A152T |
probably benign |
Het |
| Cars2 |
A |
C |
8: 11,579,706 (GRCm39) |
F251V |
probably damaging |
Het |
| Cdkl1 |
A |
T |
12: 69,800,952 (GRCm39) |
F229I |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,486,171 (GRCm39) |
Y556F |
possibly damaging |
Het |
| Chst15 |
T |
C |
7: 131,849,615 (GRCm39) |
N442S |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,436,707 (GRCm39) |
D1602E |
possibly damaging |
Het |
| Col9a3 |
A |
T |
2: 180,245,183 (GRCm39) |
I131F |
unknown |
Het |
| Cyp4f15 |
A |
T |
17: 32,909,733 (GRCm39) |
D110V |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,968,457 (GRCm39) |
I1258V |
probably benign |
Het |
| Dpyd |
A |
G |
3: 119,108,452 (GRCm39) |
T832A |
possibly damaging |
Het |
| Eno1 |
A |
G |
4: 150,329,693 (GRCm39) |
Y189C |
probably damaging |
Het |
| Gnat3 |
A |
G |
5: 18,208,838 (GRCm39) |
T181A |
|
Het |
| Kif1b |
T |
C |
4: 149,306,805 (GRCm39) |
M852V |
probably damaging |
Het |
| Klk1b26 |
A |
T |
7: 43,665,508 (GRCm39) |
I139F |
probably damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,493,681 (GRCm39) |
V1547M |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,318,790 (GRCm39) |
T876A |
probably damaging |
Het |
| Malrd1 |
G |
T |
2: 15,638,035 (GRCm39) |
W451L |
unknown |
Het |
| Marchf6 |
A |
T |
15: 31,494,262 (GRCm39) |
N261K |
possibly damaging |
Het |
| Mcpt2 |
T |
C |
14: 56,280,250 (GRCm39) |
C50R |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,569,981 (GRCm39) |
V846A |
unknown |
Het |
| Muc5b |
A |
T |
7: 141,414,602 (GRCm39) |
D2516V |
unknown |
Het |
| Myh15 |
T |
C |
16: 48,913,120 (GRCm39) |
L359P |
probably benign |
Het |
| Nemp1 |
G |
A |
10: 127,528,898 (GRCm39) |
V201I |
probably benign |
Het |
| Nr2e1 |
A |
T |
10: 42,444,425 (GRCm39) |
L228Q |
probably damaging |
Het |
| Nrg1 |
C |
A |
8: 32,312,334 (GRCm39) |
V388L |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 38,734,053 (GRCm39) |
T278S |
probably damaging |
Het |
| Numb |
T |
C |
12: 83,854,990 (GRCm39) |
E112G |
probably benign |
Het |
| Or1l4b |
T |
C |
2: 37,036,778 (GRCm39) |
S185P |
probably damaging |
Het |
| Or8g2b |
A |
C |
9: 39,751,612 (GRCm39) |
N294T |
probably damaging |
Het |
| Pdlim2 |
C |
A |
14: 70,403,563 (GRCm39) |
C283F |
probably damaging |
Het |
| Potegl |
T |
A |
2: 23,147,017 (GRCm39) |
|
probably null |
Het |
| Ppm1a |
G |
A |
12: 72,830,909 (GRCm39) |
G145R |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,720,809 (GRCm39) |
D44V |
probably benign |
Het |
| Pramel18 |
A |
T |
4: 101,767,581 (GRCm39) |
M277L |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,103,027 (GRCm39) |
Q2729K |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Scn9a |
G |
T |
2: 66,366,626 (GRCm39) |
T719K |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,933,281 (GRCm39) |
V113A |
probably benign |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,149,510 (GRCm39) |
|
probably null |
Het |
| Steap1 |
G |
A |
5: 5,790,816 (GRCm39) |
S44L |
probably benign |
Het |
| Sucnr1 |
C |
T |
3: 59,994,155 (GRCm39) |
R228C |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,742,517 (GRCm39) |
G48D |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 86,302,891 (GRCm39) |
V88D |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,058,622 (GRCm39) |
D7297G |
probably benign |
Het |
| Tmco5 |
T |
C |
2: 116,710,734 (GRCm39) |
I18T |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,608,601 (GRCm39) |
L230P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,719,785 (GRCm39) |
N7108S |
unknown |
Het |
| Ubr5 |
A |
G |
15: 38,025,081 (GRCm39) |
V559A |
|
Het |
| Ugt1a7c |
T |
C |
1: 88,022,973 (GRCm39) |
V44A |
possibly damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,790,494 (GRCm39) |
S494C |
possibly 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 |
|
|
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 |
|
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'- ACTGCAGAGATTCTTCCCAGC -3'
(R):5'- AGCCTACACTGACTGCCATC -3'
Sequencing Primer
(F):5'- CAGCTATTCGATCTCTACACAATGG -3'
(R):5'- CATCCGATGTCTTTCACCAAACGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation