Mutagenetix > Incidental Mutation

Incidental Mutation 'R1261:Aak1'

151602

Institutional Source

Beutler Lab

Gene Symbol

Aak1

Ensembl Gene

ENSMUSG00000057230

Gene Name

AP2 associated kinase 1

Synonyms

D6Ertd245e, 5530400K14Rik

MMRRC Submission

039328-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.451) question?

Stock #

R1261 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86826499-86980205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86912470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 114 (V114A)

Ref Sequence

ENSEMBL: ENSMUSP00000086948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003710] [ENSMUST00000089519] [ENSMUST00000204414]

AlphaFold

Q3UHJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000003710
AA Change: V114A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: V114A

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: V114A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: V114A

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: ENSMUST00000156885

Predicted Effect

probably benign
Transcript: ENSMUST00000204414
AA Change: V114A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000145013
Gene: ENSMUSG00000057230
AA Change: V114A

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
PDB:4C59\|A	34	110	2e-8	PDB
Blast:S_TKc	48	110	1e-6	BLAST
SCOP:d1f3mc_	50	109	2e-10	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.0%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef38	T	C	3: 132,866,624 (GRCm39)	E171G	possibly damaging	Het
Arsi	A	G	18: 61,049,743 (GRCm39)	T209A	probably damaging	Het
Bmp3	A	T	5: 99,027,785 (GRCm39)	R468S	probably damaging	Het
Cenpk	T	A	13: 104,367,293 (GRCm39)	V43E	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cul9	G	T	17: 46,836,708 (GRCm39)	L1106M	probably damaging	Het
Dnajc9	G	A	14: 20,438,765 (GRCm39)		probably null	Het
Enpp3	A	T	10: 24,650,832 (GRCm39)	V768E	probably damaging	Het
Klk1b5	T	C	7: 43,494,714 (GRCm39)	S66P	probably damaging	Het
Lrriq1	T	C	10: 103,069,998 (GRCm39)	D6G	possibly damaging	Het
Myh7b	A	G	2: 155,463,003 (GRCm39)	K453R	probably benign	Het
Nipsnap3b	G	T	4: 53,015,166 (GRCm39)	G71V	probably damaging	Het
Oas1h	A	G	5: 121,009,930 (GRCm39)	E335G	probably benign	Het
Or5g25	A	C	2: 85,478,143 (GRCm39)	I174S	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Slc10a1	T	A	12: 81,014,604 (GRCm39)	M39L	probably damaging	Het
Tas1r2	G	A	4: 139,382,599 (GRCm39)	R79Q	probably damaging	Het
Thoc2l	A	G	5: 104,668,501 (GRCm39)	T1008A	probably damaging	Het
Tmprss11d	T	C	5: 86,457,239 (GRCm39)	D140G	possibly damaging	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
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
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'- AGTTGCTATTGGAGATCCCACGAGG -3'
(R):5'- AGCATGGCCTGCGTTTGCTTTC -3'

Sequencing Primer
(F):5'- AGGTTTCTCAAAGACCACTGG -3'
(R):5'- TTCCCATCTGTGAAAGCGG -3'

Posted On

2014-01-29