|Institutional Source||Beutler Lab|
|Gene Name||polypeptide N-acetylgalactosaminyltransferase 3|
|Essential gene?||Possibly non essential (E-score: 0.328)|
|Stock #||R4515 (G1)|
|Chromosomal Location||66082766-66124994 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 66093610 bp (GRCm38)|
|Amino Acid Change||Arginine to Leucine at position 438 (R438L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028378 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028378]|
AA Change: R438L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R438L
|Meta Mutation Damage Score||0.6521|
|Coding Region Coverage||
|Validation Efficiency||96% (65/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Galnt3||
(F):5'- TGTATACACAGGCCTGCCAAG -3'
(R):5'- CGTAGAGACTATATGACATACCAGTAC -3'
(F):5'- CCATCTTGATGGTCAAAGTCAAAGGC -3'
(R):5'- GAGCAACAGTTTGTTTTTCCCACAAG -3'