Lbr - SNV Details



 Human Rare Diseases 
Greenberg dysplasia
Reynolds syndrome

 Gene Information 
Gene Name Lbr
Old Gene Names for Lbr Ai505894
Gene Description lamin B receptor [Source:MGI Symbol;Acc:MGI:2138281]
MGI phenotype Mutations in this gene result in abnormal skin and hair and impair growth.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; membrane; integral to membrane; nuclear inner membrane; DNA binding; chromo shadow domain binding; protein binding; nuclear envelope; oxidoreductase activity
acting on the CH-CH group of donors
NAD or NADP as acceptor; nuclear lamina; nuclear membrane; nuclear pore
Homolog in other species LBR
Omim http://omim.org/entry/600024
Immgen Expression
HIGH
Gnf Expression
HIGH(HIGHER IN IMM.G1, IMM.G3, AND EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000004880
Chromosome 1
Coordinate 181,836,194     (Assembly: GRCm38)    
Ref Base C
Codon Change cGt/cTt
Var Base A
Zygosity Heterozygous
Read Depth 95
Allele Frequency
C:R0.56
A:V0.44
Amino Acid Position 87
Amino Acid Change R->L (Arginine -> Leucine)
Sample ID IGL01680
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.07
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved