|Institutional Source||Beutler Lab|
|Gene Name||beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4658 (G1)|
|Chromosomal Location||8920374-8927234 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 8925632 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 118 (T118A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093962 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000096241] [ENSMUST00000096242] [ENSMUST00000096243] [ENSMUST00000224272]|
AA Change: T118A
PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: T118A
|Meta Mutation Damage Score||0.7556|
|Coding Region Coverage||
|Validation Efficiency||99% (88/89)|
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 glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mutants die prenatally before the 8-cell stage due to failed cytokinesis, and show reduction of the synthesis of chondroitin sulfate and heparan sulfate glycosaminoglycans. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in B3gat3||
(F):5'- ACCAGGAGCAGCTGTCATTC -3'
(R):5'- AGCAAAATACACGACTCCTTGG -3'
(F):5'- CAGGAGCAGCTGTCATTCTAAGTG -3'
(R):5'- AATACACGACTCCTTGGGTCCC -3'