|Institutional Source||Beutler Lab|
|Gene Name||heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1|
|Is this an essential gene?||Probably non essential (E-score: 0.126)|
|Stock #||R6085 (G1)|
|Chromosomal Location||64435332-64522841 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 64436178 bp|
|Amino Acid Change||Valine to Isoleucine at position 38 (V38I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055930 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058652] [ENSMUST00000177999]|
|Predicted Effect||possibly damaging
AA Change: V38I
PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: V38I
|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.] Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq, Dec 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hs3st3a1||
(F):5'- CAGTGCTTGGTCCCTAGTTC -3'
(R):5'- TTCTTCACGCCGATGATGATG -3'
(F):5'- AGCTCTCAGGCACGCAG -3'
(R):5'- TGCCCTCGTCCAGAAGTAAG -3'