Smc3 - SNV Details



 Human Rare Diseases 
Cornelia de Lange syndrome

 Gene Information 
Gene Name Smc3
Old Gene Names for Smc3 Mmip1 , Cspg6
Gene Description structural maintenance of chromosomes 3 [Source:MGI Symbol;Acc:MGI:1339795]
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; mitotic nuclear division; chromatin binding; mediator complex binding; chromosome
centromeric region; regulation of DNA replication; cytoplasm; signal transduction; stem cell maintenance; DNA repair; nuclear meiotic cohesin complex; negative regulation of DNA endoreduplication; protein binding; meiotic cohesin complex; lateral element; nucleus; nuclear matrix; chromatin; dynein binding; spindle pole; ATP binding; mitotic spindle organization; chromosome organization; chromosome; protein heterodimerization activity; meiotic nuclear division
Homolog in other species SMC3
Omim http://omim.org/entry/606062
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024974
Chromosome 19
Coordinate 53,638,758     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 17
Allele Frequency
A:R0.41
G:V0.53
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02797
Median Base Quality 34
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0.06
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved , Line Propagating