Incidental Mutation 'IGL00847:Gla'
ID12632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gla
Ensembl Gene ENSMUSG00000031266
Gene Namegalactosidase, alpha
SynonymsAgs
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00847
Quality Score
Status
ChromosomeX
Chromosomal Location134588149-134601125 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 134595198 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,152,290 E142G possibly damaging Het
Arid4a C T 12: 71,075,718 P958S probably damaging Het
BC049730 A G 7: 24,714,248 T230A probably benign Het
Cct5 T C 15: 31,590,927 probably benign Het
Cntnap4 C T 8: 112,767,619 probably benign Het
Col4a3 C T 1: 82,717,869 L1597F probably damaging Het
Gm20422 A T 8: 69,742,992 C212* probably null Het
Hace1 T A 10: 45,672,357 Y14* probably null Het
Hcfc2 T A 10: 82,741,278 probably null Het
Helz2 T C 2: 181,232,245 D2152G possibly damaging Het
Mcm8 T G 2: 132,819,674 L74V probably benign Het
Myo18b A G 5: 112,830,389 probably benign Het
Ptprg A T 14: 12,215,265 N1084I probably damaging Het
Rad21l C A 2: 151,660,715 A192S probably benign Het
Scn2a A G 2: 65,670,734 D80G probably damaging Het
Serpinb3c A G 1: 107,276,260 probably null Het
Sgip1 A G 4: 102,928,921 probably benign Het
Slc25a41 G T 17: 57,034,957 probably null Het
Snx14 C A 9: 88,420,329 R140S probably damaging Het
Svs6 A C 2: 164,317,587 K90T possibly damaging Het
Tlcd1 T A 11: 78,180,088 Y168N probably damaging Het
Vps13d A G 4: 145,085,408 I3312T probably benign Het
Zfp11 A G 5: 129,657,914 V161A probably benign Het
Other mutations in Gla
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2017:Gla UTSW X 134596322 missense probably damaging 1.00
Posted On2012-12-06