Mutagenetix > Incidental Mutation

Incidental Mutation 'R4665:Aak1'

351832

Institutional Source

Beutler Lab

Gene Symbol

Aak1

Ensembl Gene

ENSMUSG00000057230

Gene Name

AP2 associated kinase 1

Synonyms

D6Ertd245e, 5530400K14Rik

MMRRC Submission

041923-MU

Accession Numbers

Essential gene?

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

Stock #

R4665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86826499-86980205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86902059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 76 (M76K)

Ref Sequence

ENSEMBL: ENSMUSP00000086948 (fasta)

Gene Model

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

AlphaFold

Q3UHJ0

Predicted Effect

probably null
Transcript: ENSMUST00000003710
AA Change: M76K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: M76K

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: M76K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: M76K

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 null
Transcript: ENSMUST00000204414
AA Change: M76K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145013
Gene: ENSMUSG00000057230
AA Change: M76K

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

Meta Mutation Damage Score

0.7830

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,766,414 (GRCm39)	I886T	probably benign	Het
Adam6a	T	C	12: 113,507,992 (GRCm39)	Y122H	possibly damaging	Het
Adgre1	A	G	17: 57,787,947 (GRCm39)	T905A	probably benign	Het
Arap2	A	G	5: 62,827,312 (GRCm39)	F969L	possibly damaging	Het
Arhgef4	G	T	1: 34,845,113 (GRCm39)	G1439V	possibly damaging	Het
Atm	A	G	9: 53,375,529 (GRCm39)	W2097R	probably benign	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
AU016765	T	A	17: 64,826,916 (GRCm39)		noncoding transcript	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Cdc42bpa	A	G	1: 179,972,130 (GRCm39)	T527A	probably damaging	Het
Chmp7	A	T	14: 69,958,404 (GRCm39)	V255D	probably damaging	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Cpsf2	T	C	12: 101,949,466 (GRCm39)	S61P	probably damaging	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Crygn	T	A	5: 24,956,019 (GRCm39)		probably benign	Het
Csde1	C	T	3: 102,954,388 (GRCm39)	T386M	probably damaging	Het
Cux1	G	A	5: 136,315,653 (GRCm39)	T1129I	probably damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dhx16	T	C	17: 36,190,835 (GRCm39)	V11A	probably damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Eif5b	A	G	1: 38,084,793 (GRCm39)	E880G	probably damaging	Het
Eml6	A	T	11: 29,769,007 (GRCm39)	Y67*	probably null	Het
Faim2	C	A	15: 99,422,581 (GRCm39)		probably null	Het
Faim2	T	G	15: 99,422,582 (GRCm39)	S72R	probably benign	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fhip1a	A	T	3: 85,637,988 (GRCm39)	W104R	probably damaging	Het
Gak	A	G	5: 108,730,826 (GRCm39)	I860T	probably benign	Het
Garem2	C	A	5: 30,319,665 (GRCm39)	R376S	probably damaging	Het
Gdf2	A	G	14: 33,667,408 (GRCm39)	T377A	probably damaging	Het
Gm2431	A	T	7: 141,811,440 (GRCm39)	C155S	unknown	Het
Gm5814	A	G	17: 47,721,288 (GRCm39)	M1V	probably null	Het
Gm5901	C	G	7: 105,026,438 (GRCm39)	Q69E	possibly damaging	Het
Gm9945	A	G	11: 53,371,202 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,908,956 (GRCm39)	V486A	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Hoxa11	T	A	6: 52,220,483 (GRCm39)	N267Y	probably damaging	Het
Ifngr2	C	A	16: 91,356,926 (GRCm39)	H153Q	possibly damaging	Het
Ift172	G	T	5: 31,442,598 (GRCm39)	Q190K	possibly damaging	Het
Iqch	A	G	9: 63,352,853 (GRCm39)	V899A	probably damaging	Het
Lactb2	T	C	1: 13,717,624 (GRCm39)	E133G	probably damaging	Het
Lig3	G	A	11: 82,691,076 (GRCm39)	V110M	probably damaging	Het
Lin54	C	A	5: 100,600,943 (GRCm39)	Q262H	possibly damaging	Het
Lingo3	G	A	10: 80,671,372 (GRCm39)	T186I	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Ly86	T	A	13: 37,559,010 (GRCm39)	F70I	probably damaging	Het
Mospd2	A	T	X: 163,730,329 (GRCm39)	S301T	probably benign	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Myo15a	A	T	11: 60,395,705 (GRCm39)		probably null	Het
Nme8	C	G	13: 19,858,605 (GRCm39)	A78P	probably damaging	Het
Obscn	C	T	11: 59,015,578 (GRCm39)	V965M	probably damaging	Het
Or10ag57	T	A	2: 87,218,220 (GRCm39)	I57K	probably damaging	Het
Parn	T	C	16: 13,358,967 (GRCm39)	K592E	probably benign	Het
Pax6	C	A	2: 105,514,343 (GRCm39)		probably benign	Het
Pdcd6	A	T	13: 74,465,325 (GRCm39)	M1K	probably null	Het
Pex11b	T	C	3: 96,551,151 (GRCm39)	L198P	possibly damaging	Het
Phldb3	C	T	7: 24,310,852 (GRCm39)	A28V	probably benign	Het
Pkn3	C	A	2: 29,975,469 (GRCm39)		probably benign	Het
Pknox1	T	C	17: 31,814,300 (GRCm39)		probably null	Het
Ptprg	A	C	14: 12,215,288 (GRCm38)	I1092L	possibly damaging	Het
Pxylp1	A	C	9: 96,707,338 (GRCm39)	I281M	probably damaging	Het
Ramac	C	T	7: 81,418,178 (GRCm39)	R78W	probably damaging	Het
Retreg2	G	T	1: 75,121,310 (GRCm39)	L195F	probably damaging	Het
Rgs20	G	C	1: 5,091,231 (GRCm39)	F66L	probably benign	Het
Ripk4	C	T	16: 97,556,273 (GRCm39)	V157I	probably damaging	Het
Ryr2	T	C	13: 11,765,571 (GRCm39)		probably null	Het
Scaper	A	T	9: 55,819,339 (GRCm39)	S125R	probably damaging	Het
Sec16a	C	T	2: 26,302,970 (GRCm39)		probably benign	Het
Slc35f6	T	C	5: 30,812,957 (GRCm39)	L37P	probably damaging	Het
Slc6a12	T	A	6: 121,335,972 (GRCm39)		probably benign	Het
Slc9a5	A	G	8: 106,094,760 (GRCm39)	K784E	probably damaging	Het
Snd1	T	C	6: 28,707,053 (GRCm39)	V455A	probably damaging	Het
Ssbp2	A	T	13: 91,687,454 (GRCm39)	I46L	possibly damaging	Het
Stil	A	G	4: 114,898,841 (GRCm39)	D1157G	probably benign	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tdpoz6	G	A	3: 93,599,776 (GRCm39)	H198Y	probably damaging	Het
Tdrd6	T	A	17: 43,935,007 (GRCm39)	M2014L	probably benign	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Tmprss11d	T	C	5: 86,457,260 (GRCm39)	D133G	probably damaging	Het
Tpr	C	T	1: 150,320,150 (GRCm39)	R2233W	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vgll1	A	G	X: 56,137,792 (GRCm39)	R54G	possibly damaging	Het
Wdr72	A	G	9: 74,117,306 (GRCm39)	T673A	probably benign	Het
Zfp169	C	T	13: 48,644,339 (GRCm39)		probably benign	Het
Zfp319	G	A	8: 96,052,201 (GRCm39)		probably benign	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
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'- AGTTCCAAGAGTGGCAGAATGC -3'
(R):5'- TGGACTTAACAGGTTTTAAGAGGG -3'

Sequencing Primer
(F):5'- CCGTCTAGGCCAGGATGGTTTG -3'
(R):5'- TAACAGGTTTTAAGAGGGAAAACTC -3'

Posted On

2015-10-08