|Institutional Source||Beutler Lab|
|Gene Name||heparan sulfate 6-O-sulfotransferase 1|
|Is this an essential gene?||Probably essential (E-score: 0.889)|
|Stock #||R1355 (G1)|
|Chromosomal Location||36068400-36106446 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 36103576 bp (GRCm38)|
|Amino Acid Change||Histidine to Glutamine at position 197 (H197Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000085499 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000088174]|
AA Change: H197Q
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: H197Q
|Meta Mutation Damage Score||0.9133|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show prenatal loss, stunted growth, dilated alveoli and lower postweaning survival. Homozygotes for another null allele show additional defects in placenta, eye, phalanx and tarsus morphology. Homozygotes for a gene trapallele show altered retinal axon guidance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hs6st1||
(F):5'- TCCTCAGAAACGAGCAACGAATGTC -3'
(R):5'- ATGCCTCGCAGGTTCTTCTTGG -3'
(F):5'- AGGAGAGCTTACTTGATGCC -3'
(R):5'- ATAGGTTGTAGCAGCCCAC -3'