|Institutional Source||Beutler Lab|
|Gene Name||UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)|
|Is this an essential gene?||Probably non essential (E-score: 0.110)|
|Stock #||R2034 (G1)|
|Chromosomal Location||98192417-98199481 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 98194018 bp|
|Amino Acid Change||Leucine to Proline at position 245 (L245P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095879 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098278]|
|Predicted Effect||possibly damaging
AA Change: L245P
PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: L245P
|Meta Mutation Damage Score||0.448|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozgous for a knock-out allele exhibit increased permeability of the intestinal barrier, increased susceptibility to DSS-induced colitis and accelerated colorectal tumorigenesis in mice treated with AOM and DSS. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in B3gnt6||
(F):5'- GGATAAGCGCTGCACATTGG -3'
(R):5'- TCAGTGACACCTTCCTCAAC -3'
(F):5'- CCATGTAGGCATCGTCGATG -3'
(R):5'- GTGACACCTTCCTCAACCTCAC -3'