|Institutional Source||Beutler Lab|
|Gene Name||polypeptide N-acetylgalactosaminyltransferase 3|
|Is this an essential gene?||Possibly non essential (E-score: 0.333)|
|Stock #||R4039 (G1)|
|Chromosomal Location||66082766-66124994 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 66085327 bp|
|Amino Acid Change||Histidine to Glutamine at position 563 (H563Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028378 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028378]|
|Predicted Effect||probably damaging
AA Change: H563Q
PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: H563Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.046|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
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'- TTTTCACCTACAGAAGCCAAGC -3'
(R):5'- TCCACAGAGCCTGTCGTAAC -3'
(F):5'- GCCAAGCGTAACTTTATCACTAG -3'
(R):5'- GAGCCTGTCGTAACTAATGCC -3'