Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03085:Aagab'

418081

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aagab

Ensembl Gene

ENSMUSG00000037257

Gene Name

alpha- and gamma-adaptin binding protein

Synonyms

2310007F21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

IGL03085

Quality Score

Status

Chromosome

Chromosomal Location

63509942-63551870 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 63546316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041551] [ENSMUST00000213880]

AlphaFold

Q8R2R3

Predicted Effect

probably benign
Transcript: ENSMUST00000041551

SMART Domains

Protein: ENSMUSP00000048595
Gene: ENSMUSG00000037257

Domain	Start	End	E-Value	Type
Pfam:Adaptin_binding	155	295	3.8e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213702

Predicted Effect

probably benign
Transcript: ENSMUST00000213880

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 64,208,881 (GRCm39)	H230Q	probably benign	Het
Actl11	G	T	9: 107,806,749 (GRCm39)	K357N	probably damaging	Het
Aktip	A	G	8: 91,852,651 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,529,501 (GRCm39)		probably benign	Het
Arhgap21	T	A	2: 20,919,532 (GRCm39)	M58L	probably benign	Het
Art2b	T	A	7: 101,229,785 (GRCm39)	Y38F	probably damaging	Het
Asb10	T	C	5: 24,744,601 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,395,471 (GRCm39)	D1699E	possibly damaging	Het
Azi2	A	C	9: 117,888,214 (GRCm39)	K259T	probably damaging	Het
Bcas3	A	G	11: 85,367,609 (GRCm39)	D77G	probably damaging	Het
Birc6	G	A	17: 74,903,945 (GRCm39)	R1246H	probably damaging	Het
Cdh13	C	A	8: 120,015,463 (GRCm39)	D559E	probably damaging	Het
Chrm3	C	T	13: 9,927,570 (GRCm39)	A489T	probably damaging	Het
Ckap2l	A	T	2: 129,126,967 (GRCm39)	Y404N	probably benign	Het
Col18a1	A	G	10: 76,895,015 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,272,198 (GRCm39)	K731*	probably null	Het
Corin	A	T	5: 72,511,273 (GRCm39)	C360S	probably damaging	Het
Cyp1a1	A	C	9: 57,608,995 (GRCm39)	H292P	possibly damaging	Het
Dennd5b	A	G	6: 148,928,893 (GRCm39)	V760A	probably damaging	Het
Dhx57	T	C	17: 80,565,526 (GRCm39)	D842G	possibly damaging	Het
Emp2	C	A	16: 10,105,910 (GRCm39)		probably benign	Het
Eral1	G	A	11: 77,969,093 (GRCm39)	R136C	probably damaging	Het
Fat2	T	A	11: 55,174,072 (GRCm39)	M2214L	probably benign	Het
Flnb	G	A	14: 7,882,211 (GRCm38)	R304H	probably benign	Het
G6pd2	A	T	5: 61,967,645 (GRCm39)	E473D	probably benign	Het
Gpx8	A	G	13: 113,179,795 (GRCm39)	Y169H	probably damaging	Het
Ighv1-64	A	G	12: 115,471,461 (GRCm39)	S19P	possibly damaging	Het
Ikbkb	G	T	8: 23,172,802 (GRCm39)	N139K	probably benign	Het
Inpp5b	A	T	4: 124,686,115 (GRCm39)	T720S	probably benign	Het
Kmt2d	C	A	15: 98,737,821 (GRCm39)		probably benign	Het
Lrig2	G	A	3: 104,374,575 (GRCm39)	P169S	probably damaging	Het
Magi3	T	A	3: 103,922,655 (GRCm39)	K1354I	possibly damaging	Het
Mapk9	A	T	11: 49,757,865 (GRCm39)	D103V	probably damaging	Het
Mrpl46	A	T	7: 78,431,333 (GRCm39)	I75N	probably damaging	Het
Or3a1c	T	A	11: 74,046,511 (GRCm39)	I177N	probably damaging	Het
Or8b41	A	G	9: 38,054,479 (GRCm39)	E16G	probably damaging	Het
Or8d2b	G	A	9: 38,788,959 (GRCm39)	M162I	probably benign	Het
Otog	G	T	7: 45,955,346 (GRCm39)		probably null	Het
Pex11a	A	G	7: 79,387,523 (GRCm39)	L103P	probably damaging	Het
Pnpla8	A	G	12: 44,358,305 (GRCm39)	T687A	probably benign	Het
Ppm1d	A	G	11: 85,227,989 (GRCm39)	I302V	probably null	Het
Prdm11	C	A	2: 92,805,304 (GRCm39)	V549F	possibly damaging	Het
Prss54	G	A	8: 96,292,258 (GRCm39)	P107L	probably benign	Het
Rasa3	T	A	8: 13,635,690 (GRCm39)	N422I	probably benign	Het
Rbm27	T	C	18: 42,460,589 (GRCm39)		probably benign	Het
Rpl13-ps3	A	T	14: 59,131,156 (GRCm39)		noncoding transcript	Het
Rps6ka2	G	A	17: 7,562,679 (GRCm39)		probably null	Het
Sphkap	T	A	1: 83,258,075 (GRCm39)	I223F	possibly damaging	Het
Srm	T	C	4: 148,677,838 (GRCm39)	F159L	probably damaging	Het
Stt3a	A	G	9: 36,644,266 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,638,027 (GRCm39)	S395P	possibly damaging	Het
Tecpr2	A	G	12: 110,921,260 (GRCm39)		probably benign	Het
Tmub1	C	T	5: 24,651,096 (GRCm39)	G188S	probably damaging	Het
Trim66	T	A	7: 109,057,952 (GRCm39)	I877F	probably benign	Het
Ubr5	T	C	15: 38,029,812 (GRCm39)	E471G	probably damaging	Het
Vmn1r218	A	T	13: 23,321,481 (GRCm39)	Y196F	possibly damaging	Het
Vmn2r89	T	A	14: 51,689,615 (GRCm39)	D39E	probably damaging	Het
Wee1	C	A	7: 109,723,805 (GRCm39)	P240Q	probably damaging	Het
Zc3h12a	A	T	4: 125,020,813 (GRCm39)	V10D	probably benign	Het
Zzef1	T	C	11: 72,746,350 (GRCm39)		probably benign	Het

Other mutations in Aagab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Aagab	APN	9	63,546,901 (GRCm39)	missense	probably damaging	1.00
IGL01293:Aagab	APN	9	63,543,751 (GRCm39)	missense	probably benign
IGL01782:Aagab	APN	9	63,523,995 (GRCm39)	missense	probably benign	0.00
IGL02505:Aagab	APN	9	63,524,096 (GRCm39)	missense	probably damaging	0.99
IGL03172:Aagab	APN	9	63,542,676 (GRCm39)	intron	probably benign
R0326:Aagab	UTSW	9	63,526,444 (GRCm39)	missense	probably damaging	0.96
R0879:Aagab	UTSW	9	63,524,892 (GRCm39)	splice site	probably benign
R2141:Aagab	UTSW	9	63,523,957 (GRCm39)	splice site	probably null
R2142:Aagab	UTSW	9	63,523,957 (GRCm39)	splice site	probably null
R3954:Aagab	UTSW	9	63,526,442 (GRCm39)	missense	probably damaging	0.99
R3956:Aagab	UTSW	9	63,526,442 (GRCm39)	missense	probably damaging	0.99
R4886:Aagab	UTSW	9	63,543,738 (GRCm39)	missense	possibly damaging	0.69
R6193:Aagab	UTSW	9	63,524,795 (GRCm39)	missense	possibly damaging	0.94
R7899:Aagab	UTSW	9	63,524,132 (GRCm39)	missense	probably benign	0.08
R9057:Aagab	UTSW	9	63,524,782 (GRCm39)	splice site	probably benign

Posted On

2016-08-02