Incidental Mutation 'Y4335:Aak1'
ID 197497
Institutional Source Beutler Lab
Gene Symbol Aak1
Ensembl Gene ENSMUSG00000057230
Gene Name AP2 associated kinase 1
Synonyms D6Ertd245e, 5530400K14Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.451) question?
Stock # Y4335 ()
Quality Score 102
Status Not validated
Chromosome 6
Chromosomal Location 86826499-86980205 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) ACAGCAGCAGCAGCAGCAGCAGCAGC to ACAGCAGCAGCAGCAGCAGCAGC at 86936124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000086948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003710] [ENSMUST00000089519]
AlphaFold Q3UHJ0
Predicted Effect probably benign
Transcript: ENSMUST00000003710
SMART Domains Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000089519
SMART Domains Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230

DomainStartEndE-ValueType
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: ENSMUST00000204381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204613
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
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: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Naip1 C A 13: 100,562,030 (GRCm39) R1045L probably benign Het
Nckipsd C T 9: 108,694,744 (GRCm39) R649C probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Tpcn2 T C 7: 144,810,972 (GRCm39) Y575C probably damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Other mutations in Aak1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers
Posted On 2014-05-23