|Institutional Source||Beutler Lab|
|Gene Name||carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9|
|Is this an essential gene?||Probably non essential (E-score: 0.158)|
|Stock #||R5754 (G1)|
|Chromosomal Location||15451924-15760157 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 15453197 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 103 (E103G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049975 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053017] [ENSMUST00000130553]|
|Predicted Effect||possibly damaging
AA Change: E103G
PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: E103G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.048|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chst9||
(F):5'- CACAGTACAGGATTTTGTGTTTGTC -3'
(R):5'- TTGTGAATGTGCATCCAACATG -3'
(F):5'- AGGTTGAACTTGGGATCATTTACTC -3'
(R):5'- GTGAATGTGCATCCAACATGTCTTC -3'