Syne1 - SNV Details



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

 Gene Information 
Gene Name Syne1
Old Gene Names for Syne1 Be692247 , C130039f11rik , A330049m09rik
Gene Description Nesprin-1 [Source:UniProtKB/Swiss-Prot;Acc:Q6ZWR6]
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
integral to membrane; sarcomere; protein homodimerization activity; protein binding; nuclear envelope; cytoskeleton; establishment of nucleus localization; actin binding; nuclear outer 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 Non-synonymous
Ensembl ID ENSMUSG00000096054
Chromosome 10
Coordinate 5,424,382     (Assembly: GRCm38)    
Ref Base T
Codon Change Ata/Gta
Var Base C
Zygosity Heterozygous
Read Depth 30
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Position 142
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL02152
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 63 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved