|Institutional Source||Beutler Lab|
|Gene Name||hexosaminidase B|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7553 (G1)|
|Chromosomal Location||97176331-97198357 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 97198173 bp|
|Amino Acid Change||Arginine to Glutamine at position 30 (R30Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022169 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022169]|
|Predicted Effect||probably benign
AA Change: R30Q
PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
AA Change: R30Q
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutants exhibit spasticity, muscle weakness, rigidity, tremors, and ataxia beginning around 4 months of age and resulting in death about 6 weeks later. Mutants accumulate GM2 ganglioside and glycolipid GA2 in brain. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hexb||
(F):5'- AGTCCTGTGAGACCCAAGTAGC -3'
(R):5'- GGTCATCTGACTTGGTGACC -3'
(F):5'- AAGTAGCCCGGCGATCCTTC -3'
(R):5'- ACTTGGTGACCCGGGCAC -3'