Incidental Mutation 'R9439:Aak1'
| ID |
713433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aak1
|
| Ensembl Gene |
ENSMUSG00000057230 |
| Gene Name |
AP2 associated kinase 1 |
| Synonyms |
D6Ertd245e, 5530400K14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R9439 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
86826499-86980205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86933274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 415
(V415D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003710]
[ENSMUST00000089519]
|
| AlphaFold |
Q3UHJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003710
AA Change: V415D
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: V415D
| 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 |
probably damaging
Transcript: ENSMUST00000089519
AA Change: V415D
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: V415D
| 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: 99.7%
- 20x: 98.9%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,772,048 (GRCm39) |
E412D |
probably benign |
Het |
| Ache |
A |
C |
5: 137,289,185 (GRCm39) |
D297A |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,084,687 (GRCm39) |
I4T |
possibly damaging |
Het |
| Atp8b2 |
T |
A |
3: 89,851,492 (GRCm39) |
Y925F |
|
Het |
| Avpr1b |
T |
C |
1: 131,528,029 (GRCm39) |
L184P |
probably damaging |
Het |
| Cabin1 |
G |
A |
10: 75,581,069 (GRCm39) |
P419L |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,884,597 (GRCm39) |
S1578G |
probably benign |
Het |
| Ccnd2 |
A |
T |
6: 127,127,617 (GRCm39) |
C40* |
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,744,155 (GRCm39) |
I471N |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,046,671 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
C |
T |
11: 46,091,668 (GRCm39) |
R1084Q |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,412 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,012,330 (GRCm39) |
N3713S |
possibly damaging |
Het |
| Dot1l |
G |
T |
10: 80,621,438 (GRCm39) |
R633L |
possibly damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,715,030 (GRCm39) |
M809K |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,803,436 (GRCm39) |
A1680E |
possibly damaging |
Het |
| Flt1 |
A |
G |
5: 147,515,207 (GRCm39) |
F1072L |
probably damaging |
Het |
| Gm19410 |
G |
T |
8: 36,248,810 (GRCm39) |
A549S |
probably damaging |
Het |
| Gm57859 |
C |
T |
11: 113,583,229 (GRCm39) |
Q519* |
probably null |
Het |
| Gnat1 |
A |
T |
9: 107,553,511 (GRCm39) |
I249N |
|
Het |
| Gp2 |
T |
C |
7: 119,053,433 (GRCm39) |
Y176C |
probably damaging |
Het |
| Gpc2 |
G |
T |
5: 138,277,248 (GRCm39) |
Q60K |
probably benign |
Het |
| Gpsm2 |
T |
A |
3: 108,610,397 (GRCm39) |
E21V |
probably damaging |
Het |
| Igkv4-80 |
T |
A |
6: 68,993,793 (GRCm39) |
M33L |
probably benign |
Het |
| Il20ra |
C |
A |
10: 19,618,751 (GRCm39) |
H66Q |
probably benign |
Het |
| Kap |
C |
T |
6: 133,828,950 (GRCm39) |
D61N |
probably benign |
Het |
| Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,461,692 (GRCm39) |
Y60* |
probably null |
Het |
| Neil1 |
T |
A |
9: 57,051,098 (GRCm39) |
R294* |
probably null |
Het |
| Nkx6-3 |
A |
G |
8: 23,643,778 (GRCm39) |
S60G |
probably benign |
Het |
| Noc2l |
T |
A |
4: 156,326,130 (GRCm39) |
S406T |
possibly damaging |
Het |
| Or11m3 |
T |
C |
15: 98,396,247 (GRCm39) |
V298A |
possibly damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,825 (GRCm39) |
I163T |
probably benign |
Het |
| Or2h2c |
A |
G |
17: 37,422,205 (GRCm39) |
V223A |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,104 (GRCm39) |
C145R |
probably benign |
Het |
| Or51ac3 |
T |
G |
7: 103,214,049 (GRCm39) |
I146L |
probably benign |
Het |
| Or5p81 |
T |
C |
7: 108,266,626 (GRCm39) |
M1T |
probably null |
Het |
| Paqr4 |
A |
G |
17: 23,958,939 (GRCm39) |
F21L |
probably damaging |
Het |
| Pcdha9 |
A |
G |
18: 37,131,527 (GRCm39) |
T199A |
probably benign |
Het |
| Pcdhgb7 |
T |
C |
18: 37,884,917 (GRCm39) |
L29P |
probably benign |
Het |
| Pfkl |
G |
A |
10: 77,831,172 (GRCm39) |
A323V |
probably damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,528,041 (GRCm39) |
P465T |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,274,189 (GRCm39) |
S307P |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,278,659 (GRCm39) |
Y191H |
probably damaging |
Het |
| Plod3 |
G |
A |
5: 137,023,036 (GRCm39) |
V613I |
probably benign |
Het |
| Prr23a2 |
C |
T |
9: 98,738,921 (GRCm39) |
T93I |
probably damaging |
Het |
| Ptk6 |
T |
A |
2: 180,840,206 (GRCm39) |
M267L |
possibly damaging |
Het |
| Rabl6 |
C |
T |
2: 25,492,432 (GRCm39) |
|
probably null |
Het |
| Ralgapa2 |
T |
C |
2: 146,254,058 (GRCm39) |
H787R |
probably benign |
Het |
| Rfx8 |
T |
G |
1: 39,724,669 (GRCm39) |
M231L |
probably benign |
Het |
| Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
| Smpd4 |
A |
G |
16: 17,459,451 (GRCm39) |
I625V |
probably benign |
Het |
| Tcf7l1 |
A |
G |
6: 72,765,740 (GRCm39) |
S66P |
probably damaging |
Het |
| Tsc22d1 |
G |
A |
14: 76,743,899 (GRCm39) |
V1007M |
probably damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,665,535 (GRCm39) |
R758C |
probably damaging |
Het |
| Vmn1r210 |
A |
C |
13: 23,011,397 (GRCm39) |
H296Q |
possibly damaging |
Het |
| Zfp532 |
G |
A |
18: 65,818,714 (GRCm39) |
V857I |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,501,538 (GRCm39) |
T593A |
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 |
|
|
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 |
|
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'- TGTGTAGCAAATCACAAAGCC -3'
(R):5'- TATAGAGCTCCTCACCTGCTGAG -3'
Sequencing Primer
(F):5'- AATAAGGTTTTTCTGTGTAGCCC -3'
(R):5'- CTGCTGCTGGTAAAAGGTGCC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation