|Institutional Source||Beutler Lab|
|Gene Name||chondroitin sulfate synthase 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7656 (G1)|
|Chromosomal Location||66109515-66173798 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 66171030 bp|
|Amino Acid Change||Valine to Phenylalanine at position 338 (V338F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047487 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036372]|
|Predicted Effect||probably damaging
AA Change: V338F
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: V338F
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mice are viable, but display chondrodysplasia, brachydactyly and decreased bone density. Retinal degeneration, impaired motor strength, and hematological abnormalities are also seen. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chsy1||
(F):5'- TCTTTCCTTAACAGATGCAGCAGC -3'
(R):5'- TATGTCATCCAAGGCCTCCC -3'
(F):5'- GCAGTAAAATCCACCGAG -3'
(R):5'- TGAGTCCATCCCTCTGCGG -3'