Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Aak1'

689595

Institutional Source

Beutler Lab

Gene Symbol

Aak1

Ensembl Gene

ENSMUSG00000057230

Gene Name

AP2 associated kinase 1

Synonyms

5530400K14Rik, D6Ertd245e

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.513) question?

Stock #

R9072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86849517-87003223 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 86944392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 190 (Y190*)

Ref Sequence

ENSEMBL: ENSMUSP00000086948 (fasta)

Gene Model

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

AlphaFold

Q3UHJ0

Predicted Effect

probably null
Transcript: ENSMUST00000003710
AA Change: Y190*

SMART Domains

Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: Y190*

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

probably null
Transcript: ENSMUST00000089519
AA Change: Y190*

SMART Domains

Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: Y190*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	T	C	6: 34,799,452	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,523,389	K1040N	probably damaging	Het
Ano3	T	A	2: 110,745,898	T93S	probably benign	Het
Apoc3	T	A	9: 46,233,234	I97F	probably benign	Het
Arid5a	A	G	1: 36,319,545	E401G	probably benign	Het
Atxn3	T	C	12: 101,937,471		probably null	Het
Brca1	C	T	11: 101,502,480		probably null	Het
C1ql3	T	A	2: 13,010,387	N154I	probably damaging	Het
Ccdc110	A	T	8: 45,942,838	M589L	probably benign	Het
Ccnb2	A	T	9: 70,410,813	F226I	possibly damaging	Het
Commd8	TTGTCATCT	TT	5: 72,160,984		probably null	Het
Dis3	T	C	14: 99,095,211	T262A	probably benign	Het
Eif4a2	G	A	16: 23,110,653	R234Q	probably benign	Het
Ephx2	G	A	14: 66,086,239	R481*	probably null	Het
Fbxo15	T	C	18: 84,965,520	I331T	possibly damaging	Het
Gfra2	A	G	14: 70,901,495	E121G	possibly damaging	Het
Git1	G	A	11: 77,499,075	A55T	probably benign	Het
Hfm1	T	C	5: 106,898,280	I553V	probably benign	Het
Hydin	G	A	8: 110,267,451		probably null	Het
Iqgap3	A	G	3: 88,109,466	N1085S		Het
Kbtbd12	T	C	6: 88,618,440	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,630,994	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 111,071,838	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,811,786	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,699,710	D14G	probably benign	Het
Ly6l	G	A	15: 75,449,736	V62I	possibly damaging	Het
March8	T	C	6: 116,401,923	F273L	probably benign	Het
Masp1	A	C	16: 23,469,921	S710A	probably benign	Het
Mcm10	G	A	2: 5,008,603	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,126,306	R682H	probably damaging	Het
Mink1	C	T	11: 70,608,381	T684I	possibly damaging	Het
Mocos	A	T	18: 24,664,032	Q83L	probably damaging	Het
Nags	T	C	11: 102,147,521	L351P	probably damaging	Het
Nalcn	G	A	14: 123,295,451	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,725,943	D824G	probably benign	Het
Nwd1	A	T	8: 72,695,418	M1031L	probably benign	Het
Olfr1164	T	A	2: 88,093,828	Q36L	probably benign	Het
Olfr1188	A	C	2: 88,560,314	I271L	probably benign	Het
Olfr1286	A	T	2: 111,420,360	I197N	possibly damaging	Het
Olfr1466	A	G	19: 13,341,874	T39A	possibly damaging	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Olfr743	C	T	14: 50,533,754	T114I	probably benign	Het
Pan2	T	C	10: 128,315,181	M807T	probably damaging	Het
Parp8	A	T	13: 116,911,415	I222N	probably damaging	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,531,947	L186P		Het
Ppargc1b	G	A	18: 61,310,659	R494W	probably damaging	Het
Prg4	G	T	1: 150,455,537	P462T	unknown	Het
Ptcd1	T	A	5: 145,154,715	I525L	probably benign	Het
Ptchd4	A	T	17: 42,502,759	Y517F	probably damaging	Het
Pum1	T	C	4: 130,752,861	F693S	probably damaging	Het
Ribc2	A	C	15: 85,137,962	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,496,884		probably null	Het
Sgf29	G	A	7: 126,672,654	V284M	probably damaging	Het
Skap2	C	T	6: 51,879,770		probably null	Het
Smap1	T	A	1: 23,922,073	E28V	probably damaging	Het
Smc3	A	G	19: 53,628,769	N538D	probably benign	Het
Spen	T	C	4: 141,476,391	T1642A	unknown	Het
Spred3	G	A	7: 29,166,530	R115*	probably null	Het
Sugt1	T	A	14: 79,628,853	M304K	possibly damaging	Het
Sval1	T	C	6: 41,951,672	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500	I1574T	probably benign	Het
Tinag	T	A	9: 76,997,018		probably null	Het
Trak1	T	C	9: 121,460,488	L622P	probably damaging	Het
Ttn	C	T	2: 76,755,874	D21838N	probably damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,756,276	A7V	probably benign	Het
Yy1	G	T	12: 108,793,995	G195C	probably benign	Het
Zbtb17	T	A	4: 141,466,365	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,712,234	V668A	probably benign	Het
Zfp819	C	A	7: 43,617,146	T351K	probably damaging	Het
Zfp820	C	A	17: 21,820,050	S99I	possibly 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
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
R8298:Aak1	UTSW	6	86925079	missense	possibly damaging	0.81
R8342:Aak1	UTSW	6	86986339	missense	unknown
R8515:Aak1	UTSW	6	86925130	missense	possibly damaging	0.48
R8560:Aak1	UTSW	6	86981392	missense	unknown
R8943:Aak1	UTSW	6	86987252	missense	unknown
R8966:Aak1	UTSW	6	86987252	missense	unknown
R9073:Aak1	UTSW	6	86944392	nonsense	probably null
R9254:Aak1	UTSW	6	86937067	missense	possibly damaging	0.91
R9439:Aak1	UTSW	6	86956292	missense	probably damaging	0.98
R9607:Aak1	UTSW	6	86937086	critical splice donor site	probably null
Y4335:Aak1	UTSW	6	86959142	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTTCAATTGGGGTGAGTCC -3'
(R):5'- GCTAAAGGGTAACTGGCCTG -3'

Sequencing Primer
(F):5'- GTGAGTCCTGTTAAGATACATGC -3'
(R):5'- GTAACTGGCCTGCACCC -3'

Posted On

2021-11-19