|Institutional Source||Beutler Lab|
|Gene Name||heparan sulfate 2-O-sulfotransferase 1|
|Is this an essential gene?||Possibly essential (E-score: 0.688)|
|Stock #||R7720 (G1)|
|Chromosomal Location||144429706-144570181 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 144454022 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 127 (N127D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043066 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043325] [ENSMUST00000160690]|
|Predicted Effect||probably damaging
AA Change: N127D
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: N127D
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
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. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: A mutation in this gene causes bilateral renal agenesis, bone defects, eye development abnormalities and cataracts in homozygous mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hs2st1||
(F):5'- TCGAGACGTGTCCTTTTATGACC -3'
(R):5'- GTTCAGACTCCACTGACTGC -3'
(F):5'- GACGTGTCCTTTTATGACCACTAGAG -3'
(R):5'- GACTGCTCTTACTTCAAACTGG -3'