|Institutional Source||Beutler Lab|
|Gene Name||chondroitin sulfate synthase 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8410 (G1)|
|Chromosomal Location||66109515-66173798 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 66125463 bp|
|Amino Acid Change||Leucine to Glutamine at position 180 (L180Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047487 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036372]|
|Predicted Effect||probably damaging
AA Change: L180Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L180Q
|Meta Mutation Damage Score||0.9693|
|Coding Region Coverage||
|Validation Efficiency||95% (40/42)|
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'- AGTTCTTCTCTAGCGAGGGTTC -3'
(R):5'- CTCATGGGTGGTGTACATTTCC -3'
(F):5'- CTCTAGCGAGGGTTCAGATACATC -3'
(R):5'- TGGTGTACATTTCCCGGAGACAC -3'