|Institutional Source||Beutler Lab|
|Gene Name||polypeptide N-acetylgalactosaminyltransferase 9|
|Is this an essential gene?||Probably non essential (E-score: 0.145)|
|Stock #||R1717 (G1)|
|Chromosomal Location||110544355-110621380 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 110596212 bp|
|Amino Acid Change||Isoleucine to Serine at position 304 (I304S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038633 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040001]|
|Predicted Effect||probably benign
AA Change: I304S
PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: I304S
|Meta Mutation Damage Score||0.06|
|Coding Region Coverage||
|Validation Efficiency||98% (81/83)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Galnt9||
(F):5'- TGGGTCCTACGCTCAGCTAGATAC -3'
(R):5'- GACCTGGTCATCATTCTGGACTTGG -3'
(F):5'- TGAAGGGTCTGAACTCATGGC -3'
(R):5'- ATCTGAGCCAGCCCTGTC -3'