|Institutional Source||Beutler Lab|
|Gene Name||polypeptide N-acetylgalactosaminyltransferase 7|
|Is this an essential gene?||Possibly essential (E-score: 0.523)|
|Stock #||R8402 (G1)|
|Chromosomal Location||57523828-57653032 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 57542919 bp|
|Amino Acid Change||Alanine to Valine at position 355 (A355V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000105945 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034021] [ENSMUST00000110316]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: A355V
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: A355V
|Coding Region Coverage||
|Validation Efficiency||100% (36/36)|
|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'- TGGAAACATGTATGGACCCAC -3'
(R):5'- GTTTTCCTAATACAGAGTGCGACC -3'
(F):5'- CCACATAGTTACACGAGTTCATAGGG -3'
(R):5'- TTCCTAATACAGAGTGCGACCAAGAC -3'