Incidental Mutation 'IGL00904:Aak1'
ID 27588
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00904
Quality Score
Status
Chromosome 6
Chromosomal Location 86826499-86980205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 86923135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 236 (G236C)
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: G236C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: G236C

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 damaging
Transcript: ENSMUST00000089519
AA Change: G236C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: G236C

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: ENSMUST00000113668
SMART Domains Protein: ENSMUSP00000109298
Gene: ENSMUSG00000057230

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
Pfam:Pkinase_Tyr 46 310 3.5e-28 PFAM
Pfam:Pkinase 46 312 1.7e-43 PFAM
Pfam:Kinase-like 126 301 1.6e-7 PFAM
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 C T 2: 22,831,942 (GRCm39) R404Q possibly damaging Het
Atp8b3 C T 10: 80,364,598 (GRCm39) G532R probably damaging Het
Bysl C T 17: 47,912,796 (GRCm39) M331I probably benign Het
Ccdc121rt3 G A 5: 112,502,994 (GRCm39) R237* probably null Het
Cndp1 A G 18: 84,629,790 (GRCm39) S468P probably benign Het
Esd A G 14: 74,987,128 (GRCm39) *266W probably null Het
F5 T C 1: 164,021,578 (GRCm39) V1351A probably benign Het
Fchsd2 A G 7: 100,920,829 (GRCm39) D454G probably benign Het
Fndc1 T A 17: 7,975,195 (GRCm39) M1415L probably benign Het
Ghr T A 15: 3,357,602 (GRCm39) Y222F probably benign Het
Gtf3c2 C T 5: 31,330,202 (GRCm39) S299N probably damaging Het
Ice1 C T 13: 70,750,408 (GRCm39) D93N probably damaging Het
Ints7 T A 1: 191,328,276 (GRCm39) probably null Het
Kif18a A G 2: 109,122,471 (GRCm39) D182G probably damaging Het
Mcm9 A T 10: 53,499,017 (GRCm39) H308Q possibly damaging Het
Mesp2 A G 7: 79,462,401 (GRCm39) D319G probably benign Het
Mrpl55 T A 11: 59,096,499 (GRCm39) S84T probably benign Het
Mybpc3 T C 2: 90,950,374 (GRCm39) V123A probably benign Het
Myom1 T C 17: 71,406,944 (GRCm39) probably benign Het
Nfia C T 4: 97,953,623 (GRCm39) P325S probably damaging Het
Notch4 T C 17: 34,794,535 (GRCm39) probably null Het
Npepps A C 11: 97,149,132 (GRCm39) V130G probably damaging Het
Or7c70 A T 10: 78,683,597 (GRCm39) S51T probably damaging Het
Pja2 G T 17: 64,590,526 (GRCm39) T669K probably damaging Het
Rnf112 G T 11: 61,343,610 (GRCm39) D98E probably damaging Het
Rsl1d1 G A 16: 11,017,558 (GRCm39) T136I probably damaging Het
Samsn1 A T 16: 75,706,008 (GRCm39) probably benign Het
Slc6a9 T C 4: 117,721,814 (GRCm39) L280P probably damaging Het
Svep1 T C 4: 58,097,398 (GRCm39) N1382D probably benign Het
Vmn2r100 T G 17: 19,746,262 (GRCm39) C474G probably damaging Het
Vmn2r74 C T 7: 85,606,788 (GRCm39) R186H probably benign Het
Wdr7 T C 18: 63,929,302 (GRCm39) I1046T probably benign Het
Other mutations in Aak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
Y4335:Aak1 UTSW 6 86,936,124 (GRCm39) small deletion probably benign
Posted On 2013-04-17