Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01293:Aagab'

73005

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 #

IGL01293

Quality Score

Status

Chromosome

Chromosomal Location

63509942-63551870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63543751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 235 (V235A)

Ref Sequence

ENSEMBL: ENSMUSP00000048595 (fasta)

Gene Model

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

AlphaFold

Q8R2R3

Predicted Effect

probably benign
Transcript: ENSMUST00000041551
AA Change: V235A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048595
Gene: ENSMUSG00000037257
AA Change: V235A

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,190,226 (GRCm39)	V25A	probably benign	Het
Aadacl4fm5	G	T	4: 144,504,159 (GRCm39)	H331N	probably benign	Het
Ash1l	T	C	3: 88,890,836 (GRCm39)	V905A	probably benign	Het
Atrx	A	G	X: 104,919,801 (GRCm39)	S641P	probably benign	Het
Bnc1	T	C	7: 81,624,237 (GRCm39)	E330G	probably damaging	Het
Cenpq	A	T	17: 41,244,067 (GRCm39)	S4T	possibly damaging	Het
Clvs1	T	A	4: 9,281,559 (GRCm39)	M1K	probably null	Het
Cul2	A	G	18: 3,419,426 (GRCm39)	K196E	probably damaging	Het
Cyp2d10	A	T	15: 82,287,210 (GRCm39)	V471E	possibly damaging	Het
Efhc2	T	A	X: 17,073,934 (GRCm39)	I469L	probably benign	Het
Fhod3	C	T	18: 25,153,709 (GRCm39)		probably benign	Het
Gm1968	A	G	16: 29,777,632 (GRCm39)		noncoding transcript	Het
Hpdl	T	A	4: 116,678,141 (GRCm39)	T107S	possibly damaging	Het
Il1rl1	G	A	1: 40,485,376 (GRCm39)	G276D	possibly damaging	Het
Irgq	A	G	7: 24,233,149 (GRCm39)	D330G	probably damaging	Het
Kdm4b	A	G	17: 56,660,019 (GRCm39)	D62G	probably benign	Het
Lama2	T	C	10: 27,107,632 (GRCm39)	T793A	probably benign	Het
Lrrk2	T	C	15: 91,610,340 (GRCm39)	F691L	probably benign	Het
Macf1	C	T	4: 123,365,104 (GRCm39)	G1654E	probably benign	Het
Mgat4c	A	T	10: 102,224,086 (GRCm39)	Y100F	probably benign	Het
Ncapg	A	G	5: 45,839,196 (GRCm39)	N532S	probably benign	Het
Nfkb1	T	C	3: 135,296,600 (GRCm39)	D782G	probably damaging	Het
Nthl1	G	T	17: 24,857,683 (GRCm39)	C294F	probably damaging	Het
Obp2b	A	G	2: 25,627,719 (GRCm39)	H45R	probably benign	Het
Olfm1	A	G	2: 28,104,715 (GRCm39)	E156G	probably damaging	Het
Or14j2	A	G	17: 37,886,308 (GRCm39)	I2T	probably benign	Het
Or7g29	C	A	9: 19,286,632 (GRCm39)	A182S	probably benign	Het
Otud6b	A	G	4: 14,822,682 (GRCm39)		probably benign	Het
Patl2	T	C	2: 121,954,291 (GRCm39)	T427A	probably benign	Het
Pdzd8	T	A	19: 59,288,218 (GRCm39)	R1061W	probably damaging	Het
Plk3	A	T	4: 116,990,194 (GRCm39)	L137*	probably null	Het
Rps6ka6	T	C	X: 110,360,059 (GRCm39)		probably benign	Het
Shank1	T	C	7: 44,003,660 (GRCm39)	V1784A	possibly damaging	Het
Smc1b	A	T	15: 85,016,099 (GRCm39)	S14T	probably damaging	Het
Sox4	C	A	13: 29,136,664 (GRCm39)	R114L	probably damaging	Het
Speg	C	T	1: 75,364,746 (GRCm39)	R221W	probably damaging	Het
Tram1l1	T	C	3: 124,115,788 (GRCm39)	V316A	probably benign	Het
Virma	G	T	4: 11,521,114 (GRCm39)	K840N	probably damaging	Het
Vmn1r49	A	T	6: 90,049,394 (GRCm39)	S203T	probably damaging	Het
Wdr1	T	C	5: 38,686,886 (GRCm39)	T293A	probably benign	Het
Xirp2	C	T	2: 67,345,528 (GRCm39)	P2590S	possibly damaging	Het
Zfp106	T	C	2: 120,365,516 (GRCm39)	Y297C	possibly damaging	Het
Zfp128	A	G	7: 12,625,351 (GRCm39)	*573W	probably null	Het
Zfp575	G	A	7: 24,285,182 (GRCm39)	P153L	probably damaging	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
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
IGL03085:Aagab	APN	9	63,546,316 (GRCm39)	splice site	probably benign
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

2013-10-07