Mutagenetix > Incidental Mutation

Incidental Mutation 'R1931:Aak1'

215361

Institutional Source

Beutler Lab

Gene Symbol

Aak1

Ensembl Gene

ENSMUSG00000057230

Gene Name

AP2 associated kinase 1

Synonyms

D6Ertd245e, 5530400K14Rik

MMRRC Submission

039949-MU

Accession Numbers

Essential gene?

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

Stock #

R1931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86826499-86980205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86933318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 430 (S430A)

Ref Sequence

ENSEMBL: ENSMUSP00000086948 (fasta)

Gene Model

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

AlphaFold

Q3UHJ0

Predicted Effect

unknown
Transcript: ENSMUST00000003710
AA Change: S430A

SMART Domains

Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: S430A

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

unknown
Transcript: ENSMUST00000089519
AA Change: S430A

SMART Domains

Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: S430A

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: ENSMUST00000204613

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,319,991 (GRCm39)	F337L	probably benign	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts12	C	A	15: 11,270,685 (GRCm39)	Q647K	probably benign	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamtsl1	A	G	4: 86,260,648 (GRCm39)	E961G	possibly damaging	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,112,460 (GRCm39)	M1332V	probably damaging	Het
Birc6	T	C	17: 74,872,977 (GRCm39)	I412T	probably damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Coro2a	A	T	4: 46,539,138 (GRCm39)	*544R	probably null	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Dennd2c	A	G	3: 103,040,568 (GRCm39)	N278D	probably benign	Het
Dgkh	T	C	14: 78,853,945 (GRCm39)	I265V	probably damaging	Het
Dpp3	A	T	19: 4,967,888 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,797,881 (GRCm39)	R433H	possibly damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Eif4b	T	C	15: 101,997,411 (GRCm39)	S309P	unknown	Het
Eml3	G	A	19: 8,914,507 (GRCm39)	V507M	probably benign	Het
Ezhip	T	C	X: 5,994,817 (GRCm39)	E66G	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Fsip2	T	A	2: 82,817,077 (GRCm39)	L4270H	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Gfm1	A	G	3: 67,363,918 (GRCm39)	K465E	probably benign	Het
Gpld1	A	T	13: 25,127,693 (GRCm39)	I32L	possibly damaging	Het
H4c12	A	T	13: 21,934,682 (GRCm39)		probably null	Het
Hoxd12	A	G	2: 74,505,857 (GRCm39)	T143A	probably benign	Het
Hoxd12	A	G	2: 74,505,875 (GRCm39)	T149A	probably benign	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Il31ra	T	A	13: 112,677,756 (GRCm39)	N287I	probably damaging	Het
Itga4	G	A	2: 79,144,188 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,141,852 (GRCm39)	V1730A	probably benign	Het
Klkb1	T	A	8: 45,728,514 (GRCm39)	Q415L	probably benign	Het
Lcn10	A	G	2: 25,574,347 (GRCm39)	Y118C	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nckap5l	A	G	15: 99,325,142 (GRCm39)	F454L	probably damaging	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Olfm1	G	A	2: 28,112,674 (GRCm39)		probably null	Het
Or2at4	G	T	7: 99,385,067 (GRCm39)	R239L	possibly damaging	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Or7g30	T	C	9: 19,352,647 (GRCm39)	L146P	possibly damaging	Het
Osbp2	T	C	11: 3,676,333 (GRCm39)		probably null	Het
Osbpl1a	T	A	18: 13,038,251 (GRCm39)	Q269L	probably benign	Het
Papss2	T	A	19: 32,616,368 (GRCm39)	C191*	probably null	Het
Pbxip1	A	T	3: 89,354,984 (GRCm39)		probably null	Het
Pdp1	A	G	4: 11,962,074 (GRCm39)	I79T	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pnisr	A	G	4: 21,873,612 (GRCm39)	T452A	probably benign	Het
Polr2a	A	T	11: 69,626,201 (GRCm39)	Y1612N	unknown	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Prr11	A	T	11: 86,996,868 (GRCm39)	L32*	probably null	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rps6kb1	A	G	11: 86,423,647 (GRCm39)	V111A	possibly damaging	Het
Sfxn1	A	T	13: 54,247,952 (GRCm39)	I226F	probably damaging	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
St8sia6	A	G	2: 13,797,623 (GRCm39)	S48P	probably benign	Het
Stra6l	A	T	4: 45,882,698 (GRCm39)	R470*	probably null	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Sugp1	T	A	8: 70,524,190 (GRCm39)	D598E	probably benign	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmprss2	T	C	16: 97,370,262 (GRCm39)	S301G	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Trim41	A	G	11: 48,698,319 (GRCm39)	V549A	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Unc5b	T	C	10: 60,608,348 (GRCm39)	T621A	probably benign	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Vmn1r214	C	A	13: 23,219,494 (GRCm39)	H329Q	possibly damaging	Het
Vmn2r109	T	A	17: 20,774,072 (GRCm39)	K428*	probably null	Het
Vmn2r81	A	C	10: 79,129,328 (GRCm39)	I740L	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp109	G	A	7: 23,928,161 (GRCm39)	T424M	probably damaging	Het
Zfp735	A	T	11: 73,602,677 (GRCm39)	K540N	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
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
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'- GCCATTTCTTGTGTAGCAAATCAC -3'
(R):5'- TGGTAAAAGGTGCCTGCAGG -3'

Sequencing Primer
(F):5'- CTCCTTCCAAGTGCTGGGATTAAAG -3'
(R):5'- CCTGCAGGCTGTGGTGG -3'

Posted On

2014-07-14