Syne2 - SNV Details



 Human Rare Diseases 
Autosomal dominant Emery-Dreifuss muscular dystrophy

 Gene Information 
Gene Name Syne2
Old Gene Names for Syne2 6820443o06rik , Aw546258 , D12ertd777e
Gene Description spectrin repeat containing, nuclear envelope 2 [Source:MGI Symbol;Acc:MGI:2449316]
MGI phenotype Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture in primary dermal fibroblasts and keratinocytes.
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; mitochondrion; lamellipodium membrane; fibroblast migration; nuclear migration along microfilament; sarcoplasmic reticulum; cytoplasm; nuclear migration; cytoskeletal anchoring at nuclear membrane; nuclear lumen; positive regulation of cell migration; establishment or maintenance of cell polarity; protein binding; integral component of membrane; sarcoplasmic reticulum membrane; nucleus; nuclear envelope organization; nuclear envelope; cytoskeleton; Z disc; intermediate filament cytoskeleton; centrosome localization; myofibril; filopodium membrane; actin binding; nuclear outer membrane; protein localization to nucleus; aggresome; SUN-KASH complex; focal adhesion; nuclear membrane
Homolog in other species SYNE2
Omim http://omim.org/entry/608442
Immgen Expression
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Gnf Expression
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063450
Chromosome 12
Coordinate 75,989,079     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 11
Allele Frequency
A:R0.64
G:V0.36
Amino Acid Change I->M (Isoleucine -> Methionine)
Sample ID IGL03259
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved