|Institutional Source||Beutler Lab|
|Gene Name||heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1|
|Is this an essential gene?||Probably non essential (E-score: 0.082)|
|Stock #||R6369 (G1)|
|Chromosomal Location||64435332-64522841 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 64520601 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 322 (I322F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055930 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058652]|
|Predicted Effect||probably benign
AA Change: I322F
PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: I322F
|Meta Mutation Damage Score||0.0776|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
|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'- ATCTCGGACTACACGCAGAC -3'
(R):5'- TAGAACTTGCGGTTGAAGGG -3'
(F):5'- TTCGAGAGCCTGACGTTCC -3'
(R):5'- GCCGGTAAAAGTCACGCAGC -3'