|Institutional Source||Beutler Lab|
|Gene Name||galactosidase, beta 1|
|Synonyms||C130097A14Rik, Bgs, Bgl-t, Bgl, Bgl-e, Bgt, Bge, Bgl-s|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2401 (G1)|
|Chromosomal Location||114401076-114474898 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 114454257 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 406 (T406A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055803 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000217583]|
AA Change: T406A
PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: T406A
|Meta Mutation Damage Score||0.2609|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
FUNCTION: This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a lysosomal enzyme that catalyzes the hydrolysis of terminal beta-D-galactose residues in various substrates like lactose, ganglioside GM1 and other glycoproteins. Mutations in the human gene are associated with GM1-gangliosidosis and Morquio B syndrome. Disruption of the mouse gene mirrors the symptoms of human gangliosidosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit progressive spastic diplegia, emaciation, and accumulation of ganglioside GM1 and asialo GM1 in brain tissue. Mutants die at 7-10 months of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Glb1||
(F):5'- TGGAACTTGGACAGTTGAGAC -3'
(R):5'- AGAGCACAACAATGTTCTTCCC -3'
(F):5'- GAACTTGGACAGTTGAGACTTCTCTC -3'
(R):5'- GGCCTCGAATACCATGTATCTGAG -3'