Syne1 - SNV Details



 Human Rare Diseases 
Autosomal recessive ataxia, Beauce type
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal dominant Emery-Dreifuss muscular dystrophy

 Gene Information 
Gene Name Syne1
Old Gene Names for Syne1 Be692247 , C130039f11rik , A330049m09rik
Gene Description spectrin repeat containing, nuclear envelope 1 [Source:MGI Symbol;Acc:MGI:1927152]
MGI phenotype Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.
Uniprot Name
CCDS Name
Gene GO
postsynaptic membrane; muscle cell differentiation; cytoplasm; lamin binding; cytoskeletal anchoring at nuclear membrane; poly(A) RNA binding; Golgi organization; sarcomere; protein homodimerization activity; protein binding; integral component of membrane; nucleus; nuclear envelope; cytoskeleton; actin filament binding; establishment of nucleus localization; actin binding; nuclear outer membrane; SUN-KASH complex; nuclear matrix anchoring at nuclear membrane; Golgi apparatus; nuclear membrane
Homolog in other species SYNE1
Omim http://omim.org/entry/608441
Immgen Expression
MEDIAN(HIGH IN GN.BM)
MEDIAN(HIGH IN GN.BM)
Gnf Expression
HIGH
HIGH(HIGHER IN IMM GROUP, NS GROUPS)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000096054
Chromosome 10
Coordinate 5,409,875     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 26
Allele Frequency
G:R0.50
A:V0.50
Amino Acid Change Disrupted splicing
Splice Position 4
Sample ID IGL02836
Median Base Quality 41
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved