B4galt2 - SNV Details



 Gene Information 
Gene Name B4galt2
Gene Description UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 [Source:MGI Symbol;Acc:MGI:1858493]
MGI phenotype Mice homozygous for a null allele exhibit decreased brain weight, ectopic Purkinje cells in the cerebellum, and impaired spatial learning and coordination.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; metal ion binding; Golgi cisterna membrane; protein glycosylation; carbohydrate metabolic process; lactose synthase activity; transferase activity
transferring glycosyl groups; N-acetyllactosamine synthase activity; beta-N-acetylglucosaminylglycopeptide beta-1
4-galactosyltransferase activity
Homolog in other species B4GALT2
Omim http://omim.org/entry/604013
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
HIGH(HIGHER IN IMM GROUP, NS GROUPS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028541
Chromosome 4
Coordinate 117,881,521     (Assembly: GRCm38)    
Ref Base T
Codon Change gAc/gGc
Var Base C
Zygosity Heterozygous
Read Depth 27
Allele Frequency
T:R0.41
C:V0.59
Amino Acid Position 33
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02207
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 71 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved