|Institutional Source||Beutler Lab|
|Gene Name||beta galactoside alpha 2,6 sialyltransferase 1|
|Synonyms||St6Gal-I, Siat1, ST6Gal I|
|Essential gene?||Probably non essential (E-score: 0.087)|
|Stock #||R0295 (G1)|
|Chromosomal Location||23224740-23360350 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 23356203 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000136206 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023601] [ENSMUST00000115335] [ENSMUST00000178797]|
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
FUNCTION: This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous mutation of this gene results in altered terminal glycosylation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in St6gal1||
(F):5'- AGTCAGAGACTTTGTTCCAGGCCC -3'
(R):5'- TGACTAAGTTCCCTCAGCAGACCTC -3'
(F):5'- CCGACTGGAGCACCCAC -3'
(R):5'- TTCTGGTGCATGAACGAGACC -3'