|Institutional Source||Beutler Lab|
|Gene Name||UDP-glucose dehydrogenase|
|Is this an essential gene?||Probably essential (E-score: 0.829)|
|Stock #||R7692 (G1)|
|Chromosomal Location||65413221-65435949 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 65417615 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 356 (Y356C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031103 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031103]|
|Predicted Effect||probably damaging
AA Change: Y356C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y356C
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mutation of this gene results in developmental arrest during gastrulation with defects in endoderm and mesoderm migration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ugdh||
(F):5'- TCATTCAAAGACAAGCCAGCTG -3'
(R):5'- AGAAGAGGACCTGTGTGTCTCC -3'
(F):5'- ACAAGCCAGCTGTGTGG -3'
(R):5'- AAGAGGACCTGTGTGTCTCCTTTTTC -3'