Rdh14 - SNV Details



 Gene Information 
Gene Name Rdh14
Old Gene Names for Rdh14 3110030g19rik , Aw215439
Gene Description retinol dehydrogenase 14 (all-trans and 9-cis) [Source:MGI Symbol;Acc:MGI:1920402]
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; mitochondrion; membrane; catalytic activity; oxidoreductase activity; lysosomal membrane; endoplasmic reticulum; cellular metabolic process; metabolic process; nucleus; coenzyme binding; osteoblast differentiation; molecular_function
Homolog in other species RDH14
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN THYMUS)
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020621
Chromosome 12
Coordinate 10,391,134     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 21
Allele Frequency
G:R0.57
T:V0.43
Amino Acid Change G->W (Glycine -> Tryptophan)
Sample ID IGL00264
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.8
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved