Mutagenetix > Incidental Mutations

Incidental Mutation 'R4430:Aak1'

328561

Institutional Source

Beutler Lab

Gene Symbol

Aak1

Ensembl Gene

ENSMUSG00000057230

Gene Name

AP2 associated kinase 1

Synonyms

5530400K14Rik, D6Ertd245e

MMRRC Submission

041700-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.564) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86849517-87003223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86986366 bp

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]

Predicted Effect

unknown
Transcript: ENSMUST00000003710
AA Change: N845S

SMART Domains

Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: N845S

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: N926S

SMART Domains

Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: N926S

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Ahi1	T	A	10: 20,972,078	C462S	probably damaging	Het
Ahnak	A	G	19: 9,003,040	I563V	probably benign	Het
Ankrd55	G	A	13: 112,323,183		probably null	Het
Bag3	A	G	7: 128,523,923	D22G	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,158,845	I166T	probably benign	Het
Dnah11	T	C	12: 117,983,011	I3113V	probably benign	Het
Gli2	T	C	1: 118,837,244	H1059R	probably benign	Het
Gm14412	C	A	2: 177,315,832	S90I	probably benign	Het
L1td1	A	G	4: 98,737,151	R528G	probably benign	Het
Mcm3	A	T	1: 20,811,993	L449*	probably null	Het
Mif4gd	T	C	11: 115,608,502	T185A	probably benign	Het
Mphosph9	T	C	5: 124,265,446	S840G	possibly damaging	Het
Nim1k	C	A	13: 119,712,542	R272L	possibly damaging	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1457	C	T	19: 13,095,088	V187I	probably benign	Het
Olfr806	T	A	10: 129,738,261	I219F	probably damaging	Het
Pax3	A	G	1: 78,195,324	V83A	probably damaging	Het
Pde3b	C	T	7: 114,534,670	P974S	probably damaging	Het
Pdzd3	C	T	9: 44,249,744	S175N	probably benign	Het
Pglyrp3	T	A	3: 92,031,491	D324E	probably damaging	Het
Pus7	A	G	5: 23,746,489	Y521H	probably benign	Het
Ryr2	A	G	13: 11,735,527	S1953P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
Sox5	A	G	6: 144,041,274	I188T	possibly damaging	Het
Spata4	T	C	8: 54,601,843	I86T	probably benign	Het
Ssc5d	T	C	7: 4,943,664	S1006P	probably benign	Het
Stk10	T	C	11: 32,533,552	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 133,949,223	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem201	A	C	4: 149,731,139	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,254,092	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,870,241	M503K	probably benign	Het
Zfp54	T	G	17: 21,434,960	V572G	probably damaging	Het

Other mutations in Aak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02531:Aak1	APN	6	86956447	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
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

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