Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00847:Gla'

12632

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gla

Ensembl Gene

ENSMUSG00000031266

Gene Name

galactosidase, alpha

Synonyms

Ags

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00847

Quality Score

Status

Chromosome

Chromosomal Location

133488912-133501707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 133495947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 179 (V179L)

Ref Sequence

ENSEMBL: ENSMUSP00000033621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033621] [ENSMUST00000153024]

AlphaFold

P51569

Predicted Effect

probably benign
Transcript: ENSMUST00000033621
AA Change: V179L

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

SMART Domains

Protein: ENSMUSP00000033621
Gene: ENSMUSG00000031266
AA Change: V179L

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Melibiase_2	41	413	3.5e-190	PFAM
Pfam:Melibiase	70	141	1.5e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153024

SMART Domains

Protein: ENSMUSP00000123098
Gene: ENSMUSG00000031266

Domain	Start	End	E-Value	Type
Pfam:Melibiase	2	77	6.7e-17	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
PHENOTYPE: Hemizygous male mutant mice exhibit lamellar inclusions within lysosomes in the kidneys and an accumulation of ceramidetrihexoside in the liver and kidneys, making these mutants a model of Fary disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,140,722 (GRCm39)	E142G	possibly damaging	Het
Arid4a	C	T	12: 71,122,492 (GRCm39)	P958S	probably damaging	Het
Cct5	T	C	15: 31,591,073 (GRCm39)		probably benign	Het
Cntnap4	C	T	8: 113,494,251 (GRCm39)		probably benign	Het
Col4a3	C	T	1: 82,695,590 (GRCm39)	L1597F	probably damaging	Het
Gm20422	A	T	8: 70,195,642 (GRCm39)	C212*	probably null	Het
Hace1	T	A	10: 45,548,453 (GRCm39)	Y14*	probably null	Het
Hcfc2	T	A	10: 82,577,112 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,874,038 (GRCm39)	D2152G	possibly damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mcm8	T	G	2: 132,661,594 (GRCm39)	L74V	probably benign	Het
Myo18b	A	G	5: 112,978,255 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,215,265 (GRCm38)	N1084I	probably damaging	Het
Rad21l	C	A	2: 151,502,635 (GRCm39)	A192S	probably benign	Het
Scn2a	A	G	2: 65,501,078 (GRCm39)	D80G	probably damaging	Het
Serpinb3c	A	G	1: 107,203,990 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,786,118 (GRCm39)		probably benign	Het
Slc25a41	G	T	17: 57,341,957 (GRCm39)		probably null	Het
Snx14	C	A	9: 88,302,382 (GRCm39)	R140S	probably damaging	Het
Svs6	A	C	2: 164,159,507 (GRCm39)	K90T	possibly damaging	Het
Tlcd1	T	A	11: 78,070,914 (GRCm39)	Y168N	probably damaging	Het
Vps13d	A	G	4: 144,811,978 (GRCm39)	I3312T	probably benign	Het
Zfp11	A	G	5: 129,734,978 (GRCm39)	V161A	probably benign	Het

Other mutations in Gla

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2017:Gla	UTSW	X	133,497,071 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06