|Institutional Source||Beutler Lab|
|Gene Name||carbohydrate (chondroitin 6/keratan) sulfotransferase 4|
|Synonyms||GST-3, HEC-GlcNAc6ST, high endothelial cell GlcNAC-6-sulphotransferase|
|Is this an essential gene?||Probably non essential (E-score: 0.063)|
|Stock #||R5514 (G1)|
|Chromosomal Location||110029153-110039740 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 110029974 bp|
|Amino Acid Change||Serine to Tyrosine at position 419 (S419Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148741 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000109222] [ENSMUST00000211894] [ENSMUST00000212934]|
|Predicted Effect||possibly damaging
AA Change: S336Y
PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: S336Y
|Predicted Effect||probably damaging
AA Change: S419Y
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3'phosphoadenosine 5'phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycoproteins. This protein is localized to the Golgi and is involved in the modification of glycan structures on ligands of the lymphocyte homing receptor L-selectin. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene do not accumulate lymphocytes in peripheral lymph nodes to as great an extent as normal. The animals are phenotypically normal otherwise. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chst4||
(F):5'- TGGTGACTAAGGCTGGAACC -3'
(R):5'- TACCTGTTCCTGAGGTATGAGG -3'
(F):5'- CAAGGGGTGCAGACAGACCTC -3'
(R):5'- ATGAGGACCTGGTTCGGGC -3'