|Institutional Source||Beutler Lab|
|Gene Name||carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9|
|Is this an essential gene?||Possibly non essential (E-score: 0.406)|
|Stock #||R2420 (G1)|
|Chromosomal Location||15451924-15760157 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 15452284 bp|
|Amino Acid Change||Asparagine to Lysine at position 407 (N407K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049975 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053017] [ENSMUST00000130553]|
|Predicted Effect||probably damaging
AA Change: N407K
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: N407K
|Predicted Effect||probably benign
|Coding Region Coverage||
|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'- CAAGTTGTTTACATGTCTCCTTGAG -3'
(R):5'- TTCTACAGTTGATTGGTGCTCC -3'
(F):5'- AACTTTGTTCCAATTGCTGTCATAC -3'
(R):5'- GGTGCTCCAAAAGAGTTGACATTTCC -3'