|Institutional Source||Beutler Lab|
|Gene Name||ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.289)|
|Stock #||R0052 (G1)|
|Chromosomal Location||73939119-74013690 bp(-) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||G to T at 73943290 bp|
|Amino Acid Change||Tyrosine to Stop codon at position 339 (Y339*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026896 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026896]|
|Predicted Effect||probably null
AA Change: Y339*
AA Change: Y339*
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.62|
|Coding Region Coverage||
|Validation Efficiency||90% (62/69)|
|MGI Phenotype||Strain: 3051219
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display abnormal mossy fiber morphology, increased exploration in new environment and impaired fear responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in St8sia2||
|Protein Function and Prediction|
St8sia2 encodes STX/ST8Sia II, a sialyltransferase that can synthesize polysialic acid on α2,3-sialylated N-glycans of glycoproteins in neural cell types during development and in regions of neurogenesis and neuroplasticity in adults (1-4).
Homozygous null mice display abnormal mossy fiber morphology, increased exploration in new environment and impaired fear responses (4).
1. Kojima, N., Yoshida, Y., and Tsuji, S. (1995) A Developmentally Regulated Member of the Sialyltransferase Family (ST8Sia II, STX) is a Polysialic Acid Synthase. FEBS Lett. 373, 119-122.
2. Kojima, N., Yoshida, Y., Kurosawa, N., Lee, Y. C., and Tsuji, S. (1995) Enzymatic Activity of a Developmentally Regulated Member of the Sialyltransferase Family (STX): Evidence for Alpha 2,8-Sialyltransferase Activity Toward N-Linked Oligosaccharides. FEBS Lett. 360, 1-4.
3. Kojima, N., Tachida, Y., Yoshida, Y., and Tsuji, S. (1996) Characterization of Mouse ST8Sia II (STX) as a Neural Cell Adhesion Molecule-Specific Polysialic Acid Synthase. Requirement of Core alpha1,6-Linked Fucose and a Polypeptide Chain for Polysialylation. J Biol Chem. 271, 19457-19463.
|Science Writer||Anne Murray|