Mutagenetix > Incidental Mutation

Incidental Mutation 'R6969:Aak1'

543373

Institutional Source

Beutler Lab

Gene Symbol

Aak1

Ensembl Gene

ENSMUSG00000057230

Gene Name

AP2 associated kinase 1

Synonyms

D6Ertd245e, 5530400K14Rik

MMRRC Submission

045079-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.476) question?

Stock #

R6969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86826499-86980205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86958317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 800 (L800H)

Ref Sequence

ENSEMBL: ENSMUSP00000086948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003710] [ENSMUST00000089519]

AlphaFold

Q3UHJ0

Predicted Effect

unknown
Transcript: ENSMUST00000003710
AA Change: L719H

SMART Domains

Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: L719H

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

unknown
Transcript: ENSMUST00000089519
AA Change: L800H

SMART Domains

Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: L800H

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: 99.8%
10x: 99.0%
20x: 96.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2b1	T	A	11: 83,280,552 (GRCm39)	D788E	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arhgap9	G	A	10: 127,162,512 (GRCm39)	E348K	probably benign	Het
B4galnt2	A	T	11: 95,782,756 (GRCm39)	F19I	probably benign	Het
Bdp1	A	T	13: 100,211,039 (GRCm39)	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,586,230 (GRCm39)	*427Q	probably null	Het
Chd9	A	C	8: 91,705,542 (GRCm39)	Q260P	probably benign	Het
Col16a1	A	T	4: 129,986,880 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 17,266,805 (GRCm39)	N40K	possibly damaging	Het
Depdc5	T	G	5: 33,141,204 (GRCm39)	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,397,398 (GRCm39)	P3943Q	probably damaging	Het
Dnttip2	A	G	3: 122,076,141 (GRCm39)	Q691R	probably damaging	Het
Dusp10	T	C	1: 183,801,085 (GRCm39)	L284P	probably damaging	Het
Efr3b	A	G	12: 4,018,624 (GRCm39)	V574A	probably benign	Het
Erc2	A	T	14: 27,620,553 (GRCm39)	I60F	probably damaging	Het
Exoc2	A	G	13: 31,095,161 (GRCm39)	V245A	probably benign	Het
Fasl	G	T	1: 161,609,244 (GRCm39)	F37L	probably damaging	Het
Fat3	G	A	9: 15,941,212 (GRCm39)	P1360S	probably benign	Het
Gpsm1	C	T	2: 26,230,555 (GRCm39)	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,605,331 (GRCm39)	G124V	probably damaging	Het
Insm2	T	C	12: 55,646,963 (GRCm39)	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,929,468 (GRCm39)	Y402H	possibly damaging	Het
Irx6	A	G	8: 93,403,958 (GRCm39)	E175G	probably damaging	Het
Kcnh8	C	T	17: 53,184,971 (GRCm39)	R418*	probably null	Het
Kif3c	G	A	12: 3,416,114 (GRCm39)	R45Q	probably benign	Het
Larp7-ps	A	G	4: 92,079,826 (GRCm39)	I54T	probably damaging	Het
Lpin1	A	G	12: 16,630,862 (GRCm39)	F12S	probably damaging	Het
Lrba	A	T	3: 86,526,897 (GRCm39)	T156S	probably benign	Het
Lrrc19	G	T	4: 94,527,610 (GRCm39)	N200K	probably benign	Het
Lrrc7	G	A	3: 157,862,550 (GRCm39)	H1296Y	probably benign	Het
Ltn1	A	T	16: 87,212,578 (GRCm39)	F661Y	probably damaging	Het
Macf1	T	C	4: 123,351,593 (GRCm39)	Y1893C	probably benign	Het
Mmd	G	C	11: 90,148,362 (GRCm39)	A15P	probably damaging	Het
Myh2	T	C	11: 67,088,092 (GRCm39)	F1903L	probably benign	Het
Myom3	T	C	4: 135,528,371 (GRCm39)	L1072P	probably damaging	Het
Or13l2	A	T	3: 97,318,118 (GRCm39)	Y126*	probably null	Het
Or56a41	T	C	7: 104,740,463 (GRCm39)	I128V	probably benign	Het
Or5bw2	G	A	7: 6,573,320 (GRCm39)	C110Y	probably damaging	Het
Or7g35	A	T	9: 19,495,886 (GRCm39)	T18S	possibly damaging	Het
Patl2	A	T	2: 121,959,410 (GRCm39)	V18D	possibly damaging	Het
Pkn1	T	C	8: 84,410,055 (GRCm39)	S395G	probably damaging	Het
Ptprm	A	G	17: 67,219,413 (GRCm39)	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 184,968,209 (GRCm39)	L187P	probably damaging	Het
Ric1	A	T	19: 29,563,182 (GRCm39)	E535V	probably damaging	Het
Ripor3	T	C	2: 167,827,657 (GRCm39)	K598R	probably benign	Het
Rnf40	A	G	7: 127,195,495 (GRCm39)	E607G	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,452,616 (GRCm39)	T544A	probably benign	Het
Scaf1	C	A	7: 44,657,253 (GRCm39)		probably benign	Het
Sec24a	T	C	11: 51,591,643 (GRCm39)	M1018V	probably benign	Het
Shmt1	C	T	11: 60,695,153 (GRCm39)	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,546,275 (GRCm39)	V383F	probably damaging	Het
Slc5a2	A	G	7: 127,871,249 (GRCm39)	T346A	probably benign	Het
Slco4a1	G	A	2: 180,106,601 (GRCm39)	S261N	probably benign	Het
Smarcc1	C	G	9: 110,025,388 (GRCm39)	S688R	probably damaging	Het
Sppl2b	G	A	10: 80,700,959 (GRCm39)	A314T	probably damaging	Het
Sptb	A	T	12: 76,654,781 (GRCm39)	V1513E	probably damaging	Het
Stx17	A	T	4: 48,140,462 (GRCm39)	I56F	probably damaging	Het
Tbc1d9	A	G	8: 83,968,171 (GRCm39)	Y424C	probably damaging	Het
Tgm3	A	G	2: 129,883,949 (GRCm39)	K536E	probably benign	Het
Tti2	A	G	8: 31,644,329 (GRCm39)	I309V	possibly damaging	Het
Tymp	G	A	15: 89,258,251 (GRCm39)	S334L	probably benign	Het
Unc13b	T	C	4: 43,263,538 (GRCm39)	F1587L	possibly damaging	Het
Vgf	G	T	5: 137,060,507 (GRCm39)		probably benign	Het
Zfp59	T	C	7: 27,552,922 (GRCm39)	S125P	probably damaging	Het
Zfp641	A	T	15: 98,188,448 (GRCm39)	M144K	possibly damaging	Het
Zfp93	A	T	7: 23,974,806 (GRCm39)	K264*	probably null	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
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'- AGTCTTTTGGAGGGTGCACAAC -3'
(R):5'- GGATTCCCACCATGCACAAG -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- CACCATGCACAAGGGCTAGG -3'

Posted On

2018-11-28