Incidental Mutation 'IGL02531:Aak1'
ID297324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aak1
Ensembl Gene ENSMUSG00000057230
Gene NameAP2 associated kinase 1
Synonyms5530400K14Rik, D6Ertd245e
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.543) question?
Stock #IGL02531
Quality Score
Status
Chromosome6
Chromosomal Location86849517-87003223 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 86956447 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 467 (H467N)
Ref Sequence ENSEMBL: ENSMUSP00000086948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003710] [ENSMUST00000089519]
Predicted Effect unknown
Transcript: ENSMUST00000003710
AA Change: H467N
SMART Domains Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: H467N

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 unknown
Transcript: ENSMUST00000089519
AA Change: H467N
SMART Domains Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: H467N

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: ENSMUST00000204613
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alb A G 5: 90,467,448 D273G probably damaging Het
Arap3 A G 18: 37,989,751 S531P probably damaging Het
Bmpr2 T A 1: 59,845,714 probably null Het
Chd7 G A 4: 8,854,134 R1902H probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b13 A T 7: 26,061,605 H29L possibly damaging Het
Enpp5 G T 17: 44,080,952 V91F probably damaging Het
Fam210b T C 2: 172,352,755 Y176H probably damaging Het
Fam83b T C 9: 76,492,000 E607G possibly damaging Het
Gm4788 T C 1: 139,774,569 K59R probably benign Het
Hhla1 C T 15: 65,967,407 probably benign Het
Kdm3b A G 18: 34,795,729 T178A probably benign Het
Klf1 T A 8: 84,904,808 F334I probably damaging Het
Klra8 A G 6: 130,118,970 S220P possibly damaging Het
Medag A G 5: 149,422,151 N99S probably benign Het
Muc6 T C 7: 141,636,940 T2607A possibly damaging Het
Mug2 T G 6: 122,072,771 L921R probably damaging Het
Nacad T C 11: 6,598,580 N1385D possibly damaging Het
Nin A G 12: 70,020,932 F1983L probably benign Het
Nipal4 T C 11: 46,151,325 I176M probably damaging Het
Orc6 T C 8: 85,303,369 S47P probably damaging Het
Ovch2 C T 7: 107,790,198 C341Y probably damaging Het
Polq T A 16: 37,062,374 H1633Q possibly damaging Het
Rab23 T C 1: 33,738,280 probably benign Het
Rai14 A G 15: 10,574,782 S697P probably damaging Het
Rnf213 T C 11: 119,436,802 F1872L probably benign Het
Sdhc T C 1: 171,136,018 H127R probably damaging Het
Snx9 T C 17: 5,891,820 V74A probably benign Het
Spata31d1d A G 13: 59,727,934 S596P possibly damaging Het
Syt14 T C 1: 192,901,934 *78W probably null Het
Thoc1 A G 18: 9,970,258 T203A probably benign Het
Trmt13 A G 3: 116,592,191 probably null Het
Ttc28 A G 5: 111,225,850 I1020V probably damaging Het
Vmn2r16 A G 5: 109,340,268 T336A probably damaging Het
Other mutations in Aak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Aak1 APN 6 86946153 missense probably damaging 1.00
IGL01284:Aak1 APN 6 86850053 start codon destroyed possibly damaging 0.86
IGL01292:Aak1 APN 6 86949538 splice site probably benign
IGL01344:Aak1 APN 6 86946157 missense possibly damaging 0.49
IGL02317:Aak1 APN 6 86956300 missense possibly damaging 0.61
IGL02422:Aak1 APN 6 86982616 missense unknown
IGL02719:Aak1 APN 6 86959170 intron probably benign
IGL03051:Aak1 APN 6 86987301 utr 3 prime probably benign
R0382:Aak1 UTSW 6 86946919 missense probably benign 0.19
R0846:Aak1 UTSW 6 86959089 intron probably benign
R1074:Aak1 UTSW 6 86935439 missense probably damaging 0.97
R1141:Aak1 UTSW 6 86965476 critical splice acceptor site probably null
R1221:Aak1 UTSW 6 86965478 missense unknown
R1261:Aak1 UTSW 6 86935488 missense probably benign 0.09
R1262:Aak1 UTSW 6 86935488 missense probably benign 0.09
R1470:Aak1 UTSW 6 86967355 missense unknown
R1470:Aak1 UTSW 6 86967355 missense unknown
R1931:Aak1 UTSW 6 86956336 missense unknown
R3713:Aak1 UTSW 6 86955190 missense probably benign 0.19
R3785:Aak1 UTSW 6 86965578 missense unknown
R3815:Aak1 UTSW 6 86959042 intron probably benign
R3816:Aak1 UTSW 6 86959042 intron probably benign
R3819:Aak1 UTSW 6 86959042 intron probably benign
R4165:Aak1 UTSW 6 86850062 missense probably damaging 1.00
R4166:Aak1 UTSW 6 86850062 missense probably damaging 1.00
R4351:Aak1 UTSW 6 86935537 splice site probably null
R4430:Aak1 UTSW 6 86986366 missense unknown
R4431:Aak1 UTSW 6 86986318 missense unknown
R4665:Aak1 UTSW 6 86925077 missense probably null 1.00
R4821:Aak1 UTSW 6 86850189 missense probably damaging 1.00
R5088:Aak1 UTSW 6 86944480 critical splice donor site probably null
R5543:Aak1 UTSW 6 86982645 critical splice donor site probably null
R5567:Aak1 UTSW 6 86955168 nonsense probably null
R5726:Aak1 UTSW 6 86925124 nonsense probably null
R6083:Aak1 UTSW 6 86963996 missense unknown
R6269:Aak1 UTSW 6 86964051 missense unknown
R6693:Aak1 UTSW 6 86965515 missense unknown
R6700:Aak1 UTSW 6 86964203 missense unknown
R6759:Aak1 UTSW 6 86944417 missense probably damaging 1.00
R6969:Aak1 UTSW 6 86981335 missense unknown
Y4335:Aak1 UTSW 6 86959142 small deletion probably benign
Posted On2015-04-16