Mutagenetix > Incidental Mutations

Incidental Mutation 'R3713:Aak1'

259729

Institutional Source

Beutler Lab

Gene Symbol

Aak1

Ensembl Gene

ENSMUSG00000057230

Gene Name

AP2 associated kinase 1

Synonyms

5530400K14Rik, D6Ertd245e

MMRRC Submission

040706-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R3713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86849517-87003223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86955190 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 381 (I381N)

Ref Sequence

ENSEMBL: ENSMUSP00000086948 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000003710
AA Change: I381N

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: I381N

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 benign
Transcript: ENSMUST00000089519
AA Change: I381N

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: I381N

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: ENSMUST00000113668

SMART Domains

Protein: ENSMUSP00000109298
Gene: ENSMUSG00000057230

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204613

Meta Mutation Damage Score

0.0847

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,627,193	M137V	probably benign	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adgrf2	A	G	17: 42,713,088	V164A	probably damaging	Het
Ahdc1	G	A	4: 133,065,986	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,586,181	M168T	probably damaging	Het
Aox1	C	T	1: 58,056,215	T196I	probably benign	Het
Aqr	A	G	2: 114,118,669		probably benign	Het
Astn1	A	G	1: 158,667,532	E1042G	possibly damaging	Het
Azi2	A	G	9: 118,047,440	D8G	possibly damaging	Het
Bcam	T	C	7: 19,764,193	T302A	probably benign	Het
Cct6b	A	T	11: 82,760,357	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Ceacam5	G	A	7: 17,759,338	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,758,260	L819P	probably damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Chd2	A	G	7: 73,471,790		probably benign	Het
Col7a1	G	T	9: 108,964,440	G1357*	probably null	Het
Cux1	A	G	5: 136,565,543		probably benign	Het
Cwh43	A	T	5: 73,438,492	I535F	probably damaging	Het
Dexi	A	T	16: 10,542,689	M1K	probably null	Het
Dnah12	T	C	14: 26,812,790	V2081A	probably benign	Het
Efcab5	A	T	11: 77,116,182	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,990,518	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,372,614	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,210,890	M1T	probably null	Het
Fscn3	C	T	6: 28,428,092	T26I	possibly damaging	Het
Galp	A	T	7: 6,213,837	D72V	probably damaging	Het
Gm9843	A	G	16: 76,403,531		noncoding transcript	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,692,995	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,107,336	Y437S	probably benign	Het
Macc1	A	G	12: 119,446,841	E448G	probably benign	Het
Madcam1	A	G	10: 79,668,360	H404R	probably benign	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Mroh3	T	C	1: 136,185,976	T692A	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Naip2	A	G	13: 100,161,902	F542S	probably damaging	Het
Napsa	A	G	7: 44,581,428	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,561,505	H354L	possibly damaging	Het
Neil1	A	T	9: 57,146,970	V22E	probably damaging	Het
Nol4	T	C	18: 23,039,937	I36V	probably damaging	Het
Nprl3	G	A	11: 32,255,464	T111I	probably damaging	Het
Olfr1184	C	A	2: 88,487,443	T237N	probably damaging	Het
Olfr361	A	G	2: 37,085,505	M81T	possibly damaging	Het
Olfr385	A	T	11: 73,588,905	Y278N	probably damaging	Het
Pald1	G	A	10: 61,342,365	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,733	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,707,923	V232A	probably damaging	Het
Pde6b	A	G	5: 108,423,062	I388V	probably damaging	Het
Phactr2	C	A	10: 13,388,732		probably benign	Het
Prdx5	T	C	19: 6,908,109	D56G	probably damaging	Het
Ptprh	A	T	7: 4,571,970	I350N	probably damaging	Het
Rangap1	C	A	15: 81,710,460	E389D	probably benign	Het
Reln	A	G	5: 21,904,734	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,835,037	G59S	possibly damaging	Het
Rsph6a	G	A	7: 19,057,550	V215M	probably damaging	Het
Smcp	T	C	3: 92,584,124	K139E	unknown	Het
Stag1	A	G	9: 100,889,618	T699A	probably benign	Het
Tarsl2	G	A	7: 65,688,952		probably null	Het
Tle1	G	T	4: 72,126,422	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,731,019	P27302S	probably damaging	Het
Ttn	C	T	2: 76,741,266	V26428I	probably damaging	Het
Usp53	T	C	3: 122,949,319	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 12,176,212	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,027,648	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,381,906	M292T	probably benign	Het
Zfp108	T	A	7: 24,261,845	C620*	probably null	Het
Zscan4b	T	C	7: 10,901,891	T170A	probably benign	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
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
Y4335:Aak1	UTSW	6	86959142	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GCGTGTTAAGGGCAGACATC -3'
(R):5'- CAGAGGTCTTAGTGATCCACC -3'

Sequencing Primer
(F):5'- AAGGGCAGACATCTTGTGTTC -3'
(R):5'- GTCTTAGTGATCCACCCGAGTACAG -3'

Posted On

2015-01-23