Ube2v2 - SNV Details



 Gene Information 
Gene Name Ube2v2
Old Gene Names for Ube2v2 1110021h13rik , 4632410d19rik , 5730524p06rik , Ai848315 , C81524
Gene Description ubiquitin-conjugating enzyme E2 variant 2 [Source:MGI Symbol;Acc:MGI:1917870]
Uniprot Name
CCDS Name
Gene GO
positive regulation of neuron projection development; error-free postreplication DNA repair; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; acid-amino acid ligase activity; protein binding; positive regulation of DNA repair; positive regulation of synapse assembly; negative regulation of neuron apoptotic process
Homolog in other species UBE2V2
Omim http://omim.org/entry/603001
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, SPINALCORDLOWER, SPINALCORDUPPER, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022674
Chromosome 16
Coordinate 15,556,485     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 13
Allele Frequency
A:R0.38
G:V0.62
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02884
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved