|Institutional Source||Beutler Lab|
|Gene Name||glucosidase, alpha; neutral C|
|Is this an essential gene?||Possibly essential (E-score: 0.673)|
|Stock #||R7229 (G1)|
|Chromosomal Location||120403896-120461700 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 120427775 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 201 (F201L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000116898 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000135074]|
|Predicted Effect||possibly damaging
AA Change: F201L
PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: F201L
|Meta Mutation Damage Score||0.1488|
|Coding Region Coverage||
|Validation Efficiency||100% (73/73)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ganc||
(F):5'- AAAATGTGGACTCATATTCTGTCTTT -3'
(R):5'- TTAGGTGCCAAAGCTCAAGG -3'
(F):5'- CGGGGATTAAACCTGAGTTGTCAATC -3'
(R):5'- CTATCTATGCTACTGGGGATTGAAC -3'