Mutagenetix > Incidental Mutation

Incidental Mutation 'R9254:Aak1'

701722

Institutional Source

Beutler Lab

Gene Symbol

Aak1

Ensembl Gene

ENSMUSG00000057230

Gene Name

AP2 associated kinase 1

Synonyms

D6Ertd245e, 5530400K14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.476) question?

Stock #

R9254 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86826499-86980205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86914049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 173 (I173V)

Ref Sequence

ENSEMBL: ENSMUSP00000086948 (fasta)

Gene Model

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

AlphaFold

Q3UHJ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003710
AA Change: I173V

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: I173V

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

possibly damaging
Transcript: ENSMUST00000089519
AA Change: I173V

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: I173V

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

probably benign
Transcript: ENSMUST00000204414

SMART Domains

Protein: ENSMUSP00000145013
Gene: ENSMUSG00000057230

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	T	7: 119,807,202 (GRCm39)	E83*	probably null	Het
Abcc5	T	C	16: 20,152,437 (GRCm39)	T1370A	probably damaging	Het
Abtb2	A	G	2: 103,541,580 (GRCm39)	T828A	probably benign	Het
Agap1	T	A	1: 89,653,741 (GRCm39)	V370D	probably damaging	Het
Ankhd1	T	C	18: 36,777,680 (GRCm39)	V1621A	probably benign	Het
Atp2a2	T	C	5: 122,611,315 (GRCm39)	I168V	probably benign	Het
Atxn2	G	A	5: 121,885,509 (GRCm39)	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,847,283 (GRCm39)	A132E	probably damaging	Het
Bod1l	T	C	5: 41,979,223 (GRCm39)	E697G	probably damaging	Het
Ccdc162	T	G	10: 41,488,944 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,752,210 (GRCm39)	S236G	unknown	Het
Csmd2	A	G	4: 128,091,112 (GRCm39)	E217G		Het
Cyp2j7	T	A	4: 96,105,740 (GRCm39)	K257*	probably null	Het
D630003M21Rik	C	T	2: 158,042,883 (GRCm39)	A886T	probably damaging	Het
D630044L22Rik	A	G	17: 26,180,856 (GRCm39)	H102R	possibly damaging	Het
Dact3	G	A	7: 16,620,013 (GRCm39)	V503I	unknown	Het
Dcn	G	T	10: 97,343,643 (GRCm39)	R201L	probably damaging	Het
Dmxl1	T	C	18: 50,024,567 (GRCm39)	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,652,743 (GRCm39)		probably null	Het
Dner	A	G	1: 84,673,193 (GRCm39)	V86A	probably benign	Het
Dspp	A	T	5: 104,322,760 (GRCm39)		probably null	Het
Gphn	T	C	12: 78,674,036 (GRCm39)		probably null	Het
Gpr158	A	G	2: 21,373,042 (GRCm39)		probably benign	Het
Grip1	G	T	10: 119,780,961 (GRCm39)	L203F	probably damaging	Het
Hgfac	T	C	5: 35,202,133 (GRCm39)	W345R	probably damaging	Het
Hoga1	T	C	19: 42,051,697 (GRCm39)	L250P	probably damaging	Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Katnip	T	C	7: 125,469,848 (GRCm39)	L1439P	probably damaging	Het
Kif21a	C	T	15: 90,854,030 (GRCm39)	R779Q	probably damaging	Het
Klkb1	T	C	8: 45,742,067 (GRCm39)	T71A	probably benign	Het
Lama2	A	G	10: 27,298,685 (GRCm39)	V137A	probably damaging	Het
Lrp2	T	C	2: 69,333,891 (GRCm39)	D1450G	probably benign	Het
Lrrc8c	T	A	5: 105,756,356 (GRCm39)	Y710*	probably null	Het
Mixl1	A	G	1: 180,522,258 (GRCm39)	S208P	probably benign	Het
Mroh1	A	G	15: 76,292,215 (GRCm39)	H229R	probably benign	Het
Muc16	T	A	9: 18,557,467 (GRCm39)	Q2942L	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup85	T	C	11: 115,469,424 (GRCm39)	I322T	probably benign	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Odad2	T	C	18: 7,265,089 (GRCm39)	D426G	possibly damaging	Het
Or10n7-ps1	A	G	9: 39,598,114 (GRCm39)	L42P	probably damaging	Het
Or5w15	T	A	2: 87,568,372 (GRCm39)	M99L	probably benign	Het
Or7e169	T	A	9: 19,757,212 (GRCm39)	K234N	possibly damaging	Het
Or8b4	C	T	9: 37,830,447 (GRCm39)	L165F	probably damaging	Het
Or9k2b	A	G	10: 130,016,605 (GRCm39)	M48T	possibly damaging	Het
Pcyt1a	G	A	16: 32,288,894 (GRCm39)	R245Q	probably benign	Het
Pi15	T	C	1: 17,695,180 (GRCm39)	Y266H	probably benign	Het
Plxna2	C	T	1: 194,492,474 (GRCm39)	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,581,874 (GRCm39)	D47G	probably benign	Het
Pram1	T	C	17: 33,860,441 (GRCm39)	V336A	probably damaging	Het
Prl	T	A	13: 27,243,503 (GRCm39)	I58N	probably damaging	Het
Qrich2	T	C	11: 116,348,934 (GRCm39)	D630G	unknown	Het
Ralgapa1	G	C	12: 55,769,583 (GRCm39)	P803A	probably damaging	Het
Rin1	A	G	19: 5,103,249 (GRCm39)	K513E	probably damaging	Het
Rtcb	A	T	10: 85,779,071 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,898,002 (GRCm39)	C131Y	probably damaging	Het
Sspo	G	T	6: 48,464,928 (GRCm39)	V3954L	probably damaging	Het
Taf4b	C	T	18: 14,946,431 (GRCm39)	T418M	probably damaging	Het
Taf6	A	G	5: 138,181,952 (GRCm39)	I92T	possibly damaging	Het
Tfg	A	T	16: 56,526,050 (GRCm39)	D64E	probably damaging	Het
Tkfc	T	A	19: 10,574,712 (GRCm39)	E176V	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem200a	A	T	10: 25,869,654 (GRCm39)	L205Q	probably damaging	Het
Trav13n-3	T	G	14: 53,574,853 (GRCm39)	L32V	probably damaging	Het
Tsen2	T	A	6: 115,553,864 (GRCm39)	M414K	probably damaging	Het
Tut7	T	C	13: 59,936,288 (GRCm39)	Y1271C	possibly damaging	Het
Txlna	A	T	4: 129,530,900 (GRCm39)	Y196N	probably damaging	Het
Usp44	T	A	10: 93,688,635 (GRCm39)	I562K	possibly damaging	Het
Vmn1r24	T	A	6: 57,932,736 (GRCm39)	I261F	probably benign	Het
Vmn2r106	T	C	17: 20,496,066 (GRCm39)	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,650 (GRCm39)	V135A	probably 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
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
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
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'- TGTAAGTGCCATGATCAAAGTGAC -3'
(R):5'- AATTCTGGAGGCTAGCTGCTATC -3'

Sequencing Primer
(F):5'- GTGACAAGTCTACCCGTTAATGTC -3'
(R):5'- AGGCTAGCTGCTATCTGTATTG -3'

Posted On

2022-03-25