|Institutional Source||Beutler Lab|
|Gene Name||heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1|
|Synonyms||3OST3B1, m3-OST-3B, 3-OST-3B, HS3ST3B1, 3Ost3b|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6191 (G1)|
|Chromosomal Location||63885792-63922290 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 63889203 bp|
|Amino Acid Change||Arginine to Leucine at position 366 (R366L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000091647 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000094103]|
|Predicted Effect||probably benign
AA Change: R366L
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: R366L
|Meta Mutation Damage Score||0.0691|
|Coding Region Coverage||
|Validation Efficiency||99% (84/85)|
|MGI Phenotype||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 integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hs3st3b1||
(F):5'- AGGCAGCTTAGTGAATTAATTGCTC -3'
(R):5'- TCATAGACACGTCCTGGAGC -3'
(F):5'- CTCTCTCAATAGATAAGCTGC -3'
(R):5'- ATCCAGATCGGCCTGTACG -3'