|Institutional Source||Beutler Lab|
|Gene Name||ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1|
|Synonyms||ST8Sia I, Siat8, Siat8a, GD3S, GD3 synthase, 9330109E03Rik, alpha-2,8-sialyltransferase|
|Is this an essential gene?||Probably non essential (E-score: 0.059)|
|Stock #||R7017 (G1)|
|Chromosomal Location||142821545-142964452 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 142867906 bp|
|Amino Acid Change||Valine to Phenylalanine at position 177 (V177F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032421 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032421] [ENSMUST00000205149]|
|Predicted Effect||probably damaging
AA Change: V177F
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: V177F
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a targeted allele are behaviorally normal with no signs of aberrant brain histology or demyelination. Homozygotes for a knock-out allele are behaviorally intact with normal nervous tissue morphology and sensitivity to Fas-mediated apoptosis but show impaired repair of damaged nerves. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in St8sia1||
(F):5'- ACGGATGCCTGTAATACTTGC -3'
(R):5'- TCGTCCACTAAAGTGCAAGAAAAG -3'
(F):5'- TCCTGCCTGTCCAGATGG -3'
(R):5'- CCACTAAAGTGCAAGAAAAGGGAAAG -3'