Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01782:Aagab'

153960

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 #

IGL01782

Quality Score

Status

Chromosome

Chromosomal Location

63509942-63551870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63523995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 34 (V34A)

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: V34A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048595
Gene: ENSMUSG00000037257
AA Change: V34A

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	T	5: 114,338,581 (GRCm39)	G764W	probably damaging	Het
Adam34l	T	A	8: 44,079,772 (GRCm39)	T151S	probably benign	Het
Ankib1	A	G	5: 3,777,607 (GRCm39)	C428R	probably damaging	Het
Card11	A	G	5: 140,913,481 (GRCm39)	M1T	probably null	Het
Ccdc62	T	A	5: 124,092,639 (GRCm39)	N541K	possibly damaging	Het
Cep290	C	T	10: 100,380,987 (GRCm39)	Q1742*	probably null	Het
Cyp2c23	T	C	19: 44,017,554 (GRCm39)	T25A	possibly damaging	Het
Dtx2	C	A	5: 136,038,981 (GRCm39)	Y13*	probably null	Het
Dync1h1	T	C	12: 110,581,374 (GRCm39)	I273T	probably damaging	Het
Etfb	A	G	7: 43,103,966 (GRCm39)	T134A	probably damaging	Het
Fig4	A	C	10: 41,146,396 (GRCm39)	L182R	probably benign	Het
Gm10220	A	T	5: 26,322,021 (GRCm39)	L217Q	probably damaging	Het
Gm4871	T	G	5: 144,967,170 (GRCm39)		probably benign	Het
Gm5464	T	C	14: 67,106,837 (GRCm39)		probably benign	Het
Lurap1	A	G	4: 116,001,700 (GRCm39)		probably benign	Het
Mmp17	T	A	5: 129,679,205 (GRCm39)	V368E	probably damaging	Het
Mrpl22	T	A	11: 58,062,670 (GRCm39)		probably null	Het
Nisch	G	A	14: 30,898,596 (GRCm39)		probably benign	Het
Odf4	A	T	11: 68,817,459 (GRCm39)	H76Q	probably damaging	Het
Or2t48	T	A	11: 58,419,985 (GRCm39)	M276L	probably benign	Het
Or6c207	C	T	10: 129,104,908 (GRCm39)	V95I	probably benign	Het
Orc1	T	C	4: 108,463,465 (GRCm39)	S661P	possibly damaging	Het
Otud4	T	G	8: 80,399,640 (GRCm39)	F784V	possibly damaging	Het
Prkch	A	G	12: 73,806,436 (GRCm39)	D561G	probably damaging	Het
Pttg1ip	T	C	10: 77,417,763 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,314,131 (GRCm39)	K1617R	probably damaging	Het
Rarb	T	G	14: 16,434,180 (GRCm38)	S333R	probably damaging	Het
Rps6ka2	A	G	17: 7,503,523 (GRCm39)	K99E	probably benign	Het
Sel1l2	A	T	2: 140,085,855 (GRCm39)	W542R	probably damaging	Het
Sema3g	G	T	14: 30,949,748 (GRCm39)	R643L	probably damaging	Het
Sltm	T	A	9: 70,480,923 (GRCm39)	D258E	probably damaging	Het
Stx18	G	A	5: 38,263,955 (GRCm39)	V80I	possibly damaging	Het
Taar2	A	T	10: 23,817,042 (GRCm39)	N194I	probably damaging	Het
Ube2r2	T	C	4: 41,174,129 (GRCm39)		probably null	Het
Unk	C	A	11: 115,949,205 (GRCm39)	N645K	probably benign	Het
Vmn1r73	A	G	7: 11,490,665 (GRCm39)	K161R	probably benign	Het
Vps13a	T	C	19: 16,731,701 (GRCm39)	D137G	probably damaging	Het
Xrra1	A	G	7: 99,524,401 (GRCm39)	T104A	possibly damaging	Het
Zfp410	T	A	12: 84,374,048 (GRCm39)		probably benign	Het
Zfp764l1	T	C	7: 126,992,476 (GRCm39)	T45A	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
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

2014-02-04