BC030867 - SNV Details



 Gene Information 
Gene Name Bc030867
Gene Description cDNA sequence BC030867 [Source:MGI Symbol;Acc:MGI:2387601]
Uniprot Name
CCDS Name
Gene GO
cellular_component; biological_process; molecular_function
Homolog in other species C17ORF53
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034773
Chromosome 11
Coordinate 102,255,596     (Assembly: GRCm38)    
Ref Base T
Codon Change Tgt/Cgt
Var Base C
Zygosity Heterozygous
Read Depth 27
Allele Frequency
T:R0.52
C:V0.48
Amino Acid Position 233
Amino Acid Change C->R (Cysteine -> Arginine)
Sample ID IGL01762
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.57
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved