|Institutional Source||Beutler Lab|
|Gene Name||carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9|
|Is this an essential gene?||Possibly essential (E-score: 0.524)|
|Stock #||R7225 (G1)|
|Chromosomal Location||15451924-15760157 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 15452661 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 282 (K282E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049975 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053017] [ENSMUST00000130553]|
|Predicted Effect||probably damaging
AA Change: K282E
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: K282E
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
|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'- AAGTAATTGGCATCCTCTCCTAAGG -3'
(R):5'- ATACTGTGCACTATGGGAAGC -3'
(F):5'- GGCATCCTCTCCTAAGGTCTCAAAC -3'
(R):5'- ATACTGTGCACTATGGGAAGCATCTG -3'