|Institutional Source||Beutler Lab|
|Gene Name||polypeptide N-acetylgalactosaminyltransferase 14|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R5328 (G1)|
|Chromosomal Location||73493228-73710453 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 73505459 bp|
|Amino Acid Change||Asparagine to Lysine at position 406 (N406K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024858 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024858] [ENSMUST00000112591]|
|Predicted Effect||possibly damaging
AA Change: N406K
PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: N406K
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with controls. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Galnt14||
(F):5'- TCAGGTTTTAGGGATAAGCAGG -3'
(R):5'- TCTGCCTGGAACTAGAGAACTC -3'
(F):5'- GAGTGATTGATTTGCTCAGCCCAC -3'
(R):5'- TACTCAGCATCCCCTAGAGGTG -3'