|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.105)|
|Stock #||R6519 (G1)|
|Chromosomal Location||99612502-99622367 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 99613670 bp|
|Amino Acid Change||Isoleucine to Threonine at position 53 (I53T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045629 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042553]|
|Predicted Effect||probably damaging
AA Change: I53T
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I53T
|Meta Mutation Damage Score||0.4986|
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
FUNCTION: This gene encodes a protein from the glycosyltransferase 32 family. The encoded enzyme catalyzes the transfer of N-acetylglucosamine to alpha-1,4-linked beta-galactose residues. This enzyme is required for type III mucin synthesis and it is largely associated with the Golgi apparatus membrane. The encoded protein appears to be expressed in adenocarcinoma cells of pancreatic, biliary tract and gastric cancers.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit gastric adenocarcinoma with increased cell proliferation, angiogenesis, inflammation and gastric mucosal thickness. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in A4gnt||
(F):5'- CTGTTGCTTGAAGGAGAGGC -3'
(R):5'- TTTCCATGTCCAAAGGCACAAAG -3'
(F):5'- CTTGAAGGAGAGGCTGGCAG -3'
(R):5'- GGCACAAAGAAAACATTATTAATGGC -3'