Lmnb2 - SNV Details



 Human Rare Diseases 
Partial acquired lipodystrophy

 Gene Information 
Gene Name Lmnb2
Gene Description lamin B2 [Source:MGI Symbol;Acc:MGI:96796]
MGI phenotype Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development.
Uniprot Name
CCDS Name
Gene GO
nuclear inner membrane; nuclear envelope; lamin filament; structural molecule activity
Homolog in other species LMNB2
Omim http://omim.org/entry/150341
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)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000062075
Chromosome 10
Coordinate 80,907,165     (Assembly: GRCm38)    
Ref Base T
Codon Change Agt/Ggt
Var Base C
Zygosity Heterozygous
Read Depth 32
Allele Frequency
T:R0.53
C:V0.47
Amino Acid Position 202
Amino Acid Change S->G (Serine -> Glycine)
Sample ID IGL01598
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.15
Polyphen Prediction Benign
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved