|Institutional Source||Beutler Lab|
|Gene Name||secretory blood group 1|
|Synonyms||Fut3, GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase FUT-III|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1780 (G1)|
|Chromosomal Location||45677686-45694402 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 45678832 bp (GRCm38)|
|Amino Acid Change||Serine to Alanine at position 264 (S264A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045229 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040636]|
|AlphaFold||no structure available at present|
AA Change: S264A
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: S264A
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (80/82)|
|MGI Phenotype||FUNCTION: This gene is one of three genes in mouse which encode a galactoside 2-L-fucosyltransferase. These genes differ in their developmental- and tissue-specific expression. This gene is predicted to encode a type II membrane protein, which is anchored in the Golgi apparatus and controls the final step in the creation of alpha (1,2) fucosylated carbhohydrates by the addition of a terminal fucose in an alpha (1,2) linkage. The biological function of the fucosylated carbhohydrate products is thought to involve cell-adhesion and interactions with microorganisms. [provided by RefSeq, Dec 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sec1||
(F):5'- GCTGCTTCTGGCTTGAAAACCG -3'
(R):5'- ATCCTGAAGGAGTTCACCCTGCAC -3'
(F):5'- TTAGCCAGGTAAACAGTGTCC -3'
(R):5'- ACCTTTGTGGGTGTCCATGT -3'