Sync - SNV Details



 Gene Information 
Gene Name Sync
Old Gene Names for Sync 1110057h03rik
Gene Description syncoilin [Source:MGI Symbol;Acc:MGI:1916078]
MGI phenotype Homozygotes for one knock-out allele show reduced generation of isometric stress in skeletal muscle but a normal response to eccentric contraction-induced injury. Homozygotes for another knock-out allele show impaired contractility and increased skeletal muscle damage under a forced exercise regime.
Uniprot Name
CCDS Name
Gene GO
perinuclear region of cytoplasm; sarcolemma; cytoplasm; intermediate filament; protein binding; cytosol; Z disc; intermediate filament-based process; neuromuscular junction; structural molecule activity
Homolog in other species SYNC
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN(HIGH IN C2C12, M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000001333
Chromosome 4
Coordinate 129,293,951     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 11
Allele Frequency
T:R0.45
C:V0.55
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL02629
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved