|Institutional Source||Beutler Lab|
|Gene Name||hexosaminidase A|
|Is this an essential gene?||Probably non essential (E-score: 0.190)|
|Stock #||R6041 (G1)|
|Chromosomal Location||59539540-59565109 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 59563236 bp|
|Amino Acid Change||Glutamine to Arginine at position 447 (Q447R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026262 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026262]|
|Predicted Effect||probably damaging
AA Change: Q447R
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: Q447R
|Meta Mutation Damage Score||0.4301|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mice lacking the encoded protein exhibit accumulation of gangliosides in the brain and membranous cytoplasmic bodies in neurons. Certain mutations in the human ortholog of this gene cause Tay-Sachs disease. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutants accumulate excess amounts of GM2 ganglioside that is stored in neurons as membranous cytoplasmic bodies typically seen in the neurons of Tay-Sachs disease patients. However, the mutant mice appear to be functionally normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hexa||
(F):5'- CGTTTCATGGTGAGAGCAGG -3'
(R):5'- AAGCATCGTCTCAGAGCCTC -3'
(F):5'- GCAGGGTGCTTTGTTGGC -3'
(R):5'- TCACGGGTGTAGCACTGG -3'