Orc1 - SNV Details



 Human Rare Diseases 
Ear-patella-short stature syndrome

 Gene Information 
Gene Name Orc1
Old Gene Names for Orc1 Aa545195 , Orc1l
Gene Description origin recognition complex, subunit 1 [Source:MGI Symbol;Acc:MGI:1328337]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; DNA replication; DNA binding; nucleoside-triphosphatase activity; nuclear origin of replication recognition complex; protein binding; nucleus; nucleotide binding; ATP binding; origin recognition complex; plasma membrane; nucleolus
Homolog in other species ORC1
Omim http://omim.org/entry/601902
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028587
Chromosome 4
Coordinate 108,602,052     (Assembly: GRCm38)    
Ref Base A
Codon Change Agg/Ggg
Var Base G
Zygosity Heterozygous
Read Depth 59
Allele Frequency
A:R0.37
G:V0.63
Amino Acid Position 473
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL01514
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability