Ofcc1 - SNV Details



 Gene Information 
Gene Name Ofcc1
Gene Description orofacial cleft 1 candidate 1 [Source:MGI Symbol;Acc:MGI:2658851]
Uniprot Name
CCDS Name
Gene GO
perinuclear region of cytoplasm; cytoplasm; endoplasmic reticulum; cytosol; microtubule cytoskeleton; biological_process; molecular_function
Homolog in other species OFCC1
Omim http://omim.org/entry/614287
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
LOW
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000047094
Chromosome 13
Coordinate 40,142,838     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 24
Allele Frequency
T:R0.46
C:V0.54
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL03399
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.06
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved