Incidental Mutation 'R4430:Aak1'
ID 328561
Institutional Source Beutler Lab
Gene Symbol Aak1
Ensembl Gene ENSMUSG00000057230
Gene Name AP2 associated kinase 1
Synonyms D6Ertd245e, 5530400K14Rik
MMRRC Submission 041700-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.451) question?
Stock # R4430 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 86826499-86980205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86963348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 926 (N926S)
Ref Sequence ENSEMBL: ENSMUSP00000086948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003710] [ENSMUST00000089519]
AlphaFold Q3UHJ0
Predicted Effect unknown
Transcript: ENSMUST00000003710
AA Change: N845S
SMART Domains Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: N845S

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: N926S
SMART Domains Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: N926S

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: ENSMUST00000203647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204613
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Ahi1 T A 10: 20,847,977 (GRCm39) C462S probably damaging Het
Ahnak A G 19: 8,980,404 (GRCm39) I563V probably benign Het
Ankrd55 G A 13: 112,459,717 (GRCm39) probably null Het
Bag3 A G 7: 128,125,647 (GRCm39) D22G probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col15a1 T C 4: 47,245,705 (GRCm39) F152S probably damaging Het
Cxcr2 T C 1: 74,198,004 (GRCm39) I166T probably benign Het
Dnah11 T C 12: 117,946,746 (GRCm39) I3113V probably benign Het
Gli2 T C 1: 118,764,974 (GRCm39) H1059R probably benign Het
Gm14412 C A 2: 177,007,625 (GRCm39) S90I probably benign Het
L1td1 A G 4: 98,625,388 (GRCm39) R528G probably benign Het
Mcm3 A T 1: 20,882,217 (GRCm39) L449* probably null Het
Mif4gd T C 11: 115,499,328 (GRCm39) T185A probably benign Het
Mphosph9 T C 5: 124,403,509 (GRCm39) S840G possibly damaging Het
Nherf4 C T 9: 44,161,041 (GRCm39) S175N probably benign Het
Nim1k C A 13: 120,174,078 (GRCm39) R272L possibly damaging Het
Or5b104 C T 19: 13,072,452 (GRCm39) V187I probably benign Het
Or6c213 T A 10: 129,574,130 (GRCm39) I219F probably damaging Het
Or8k32 A G 2: 86,368,731 (GRCm39) I176T probably damaging Het
Pax3 A G 1: 78,171,961 (GRCm39) V83A probably damaging Het
Pde3b C T 7: 114,133,905 (GRCm39) P974S probably damaging Het
Pglyrp3 T A 3: 91,938,798 (GRCm39) D324E probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Ryr2 A G 13: 11,750,413 (GRCm39) S1953P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox5 A G 6: 143,987,000 (GRCm39) I188T possibly damaging Het
Spata4 T C 8: 55,054,878 (GRCm39) I86T probably benign Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Stk10 T C 11: 32,483,552 (GRCm39) V50A possibly damaging Het
Sytl4 A G,T X: 132,849,972 (GRCm39) S338R probably damaging Homo
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem201 A C 4: 149,815,596 (GRCm39) V118G probably benign Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Ugt2b37 T C 5: 87,401,951 (GRCm39) M227V probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r73 A T 7: 85,519,449 (GRCm39) M503K probably benign Het
Zfp54 T G 17: 21,655,222 (GRCm39) V572G probably 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
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
Predicted Primers PCR Primer
(F):5'- GAAGGCTTGGTGCTTCCTTC -3'
(R):5'- CTCTAAGTAAATCCAAGTCAGTGAGG -3'

Sequencing Primer
(F):5'- GCTTGGTGCTTCCTTCCTGTTC -3'
(R):5'- CCAAGTCAGTGAGGTTTAAGCTAC -3'
Posted On 2015-07-21