Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03172:Aagab'

411904

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: 0.136) question?

Stock #

IGL03172

Quality Score

Status

Chromosome

Chromosomal Location

63509942-63551870 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 63542676 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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,839,003 (GRCm39)	H528R	probably damaging	Het
A530053G22Rik	A	T	6: 60,379,047 (GRCm39)		noncoding transcript	Het
Aknad1	A	T	3: 108,688,519 (GRCm39)	I616F	possibly damaging	Het
Ap2a1	A	C	7: 44,553,479 (GRCm39)	D629E	probably benign	Het
Apc2	C	A	10: 80,149,220 (GRCm39)	Q1425K	probably damaging	Het
Asf1b	A	C	8: 84,694,542 (GRCm39)	H102P	probably benign	Het
Celf6	C	T	9: 59,489,565 (GRCm39)	A90V	probably damaging	Het
Chrna2	A	T	14: 66,379,688 (GRCm39)	Q9L	probably benign	Het
Csnk1g3	A	G	18: 54,086,356 (GRCm39)	I420M	possibly damaging	Het
Eml3	T	C	19: 8,916,543 (GRCm39)		probably benign	Het
Epn3	T	C	11: 94,382,456 (GRCm39)	N508S	possibly damaging	Het
Fam120a	T	C	13: 49,063,812 (GRCm39)	Y608C	probably damaging	Het
Fbn1	A	C	2: 125,162,888 (GRCm39)	C2133G	possibly damaging	Het
Fhl5	A	G	4: 25,211,309 (GRCm39)	F128L	probably damaging	Het
Fn1	T	C	1: 71,680,421 (GRCm39)	N428S	probably damaging	Het
Fxr2	T	C	11: 69,540,665 (GRCm39)		probably null	Het
Gabrp	T	C	11: 33,504,388 (GRCm39)	Y309C	probably damaging	Het
Golga2	A	G	2: 32,182,168 (GRCm39)	I50V	probably benign	Het
Ifi203	C	T	1: 173,764,158 (GRCm39)	G105R	possibly damaging	Het
Itgav	A	T	2: 83,596,190 (GRCm39)	Q201L	possibly damaging	Het
Jade2	T	C	11: 51,716,198 (GRCm39)	T336A	probably damaging	Het
Kdm4b	A	G	17: 56,708,649 (GRCm39)	D996G	probably damaging	Het
Me2	A	G	18: 73,903,797 (GRCm39)	I557T	probably benign	Het
Memo1	A	C	17: 74,551,996 (GRCm39)	L100R	probably damaging	Het
Mrps2	A	G	2: 28,359,818 (GRCm39)	N225S	probably damaging	Het
Ndufa2	A	G	18: 36,877,278 (GRCm39)		probably null	Het
Or2g7	G	T	17: 38,378,275 (GRCm39)	C71F	probably damaging	Het
Or7g19	G	A	9: 18,856,757 (GRCm39)	S271N	probably benign	Het
Pak5	G	T	2: 135,940,310 (GRCm39)	Y501*	probably null	Het
Pot1b	A	T	17: 56,002,206 (GRCm39)	F123I	possibly damaging	Het
Rev3l	T	C	10: 39,700,786 (GRCm39)	V1761A	probably benign	Het
Samd3	T	A	10: 26,106,064 (GRCm39)	V14E	probably damaging	Het
Slc4a8	G	A	15: 100,697,598 (GRCm39)	A605T	probably benign	Het
Smgc	A	T	15: 91,744,642 (GRCm39)	D333V	probably damaging	Het
Spata4	A	G	8: 55,055,440 (GRCm39)	I147V	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn2r73	G	A	7: 85,507,495 (GRCm39)	H606Y	probably benign	Het
Vsig8	A	G	1: 172,387,916 (GRCm39)	N2S	probably damaging	Het
Wdr17	A	C	8: 55,114,515 (GRCm39)	I667R	probably damaging	Het
Yif1b	A	G	7: 28,937,873 (GRCm39)		probably null	Het
Zbtb5	A	T	4: 44,994,003 (GRCm39)	H460Q	possibly damaging	Het
Zdhhc21	G	A	4: 82,724,564 (GRCm39)		probably benign	Het
Zfp944	A	T	17: 22,559,018 (GRCm39)	H76Q	probably damaging	Het
Zkscan1	A	G	5: 138,092,264 (GRCm39)	Q146R	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
IGL03085:Aagab	APN	9	63,546,316 (GRCm39)	splice site	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