|Institutional Source||Beutler Lab|
|Gene Name||polypeptide N-acetylgalactosaminyltransferase 7|
|Essential gene?||Probably essential (E-score: 0.844)|
|Stock #||R6276 (G1)|
|Chromosomal Location||57523828-57653032 bp(-) (GRCm38)|
|Type of Mutation||splice site (5 bp from exon)|
|DNA Base Change (assembly)||C to T at 57536578 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000105945 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034021] [ENSMUST00000110316]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Galnt7||
(F):5'- TTTGCTGACAGTCAAGTGTGC -3'
(R):5'- TTCTATGCTAGCCGTCCTGAG -3'
(F):5'- CTGACAGTCAAGTGTGCAAAGGC -3'
(R):5'- TATGCTAGCCGTCCTGAGTCAAAG -3'