|Institutional Source||Beutler Lab|
|Gene Name||fucosidase, alpha-L- 1, tissue|
|Synonyms||0610006A03Rik, Afuc, 9530055J05Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0629 (G1)|
|Chromosomal Location||135920735-135940311 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 135925644 bp|
|Amino Acid Change||Valine to Alanine at position 193 (V193A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030434 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030434]|
|Predicted Effect||possibly damaging
AA Change: V193A
PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: V193A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.174|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
PHENOTYPE: Strain differences are probably due to a structural variant in Fuca1. Strains A/J, BDP, LP, P, SEA/Gn and 129/J have high FUCA activity and high heat stability; C57BL/6, C3H/He, DBA/2, BALB/c and 22 other strains have low activity and low heat stability. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fuca1||
(F):5'- CCAAGGATGGCCTTTAACTCCTGAC -3'
(R):5'- CATCAGTAAGTGAGCACAGCCCAG -3'
(F):5'- ccctccctctccccctc -3'
(R):5'- CCCAGAAGATCTGAGCGGTG -3'