Hsd17b14 - SNV Details



 Gene Information 
Gene Name Hsd17b14
Old Gene Names for Hsd17b14 Dhrs10 , 0610039e24rik
Gene Description hydroxysteroid (17-beta) dehydrogenase 14 [Source:MGI Symbol;Acc:MGI:1913315]
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; oxidoreductase activity
acting on the CH-OH group of donors
NAD or NADP as acceptor; estradiol 17-beta-dehydrogenase activity; catalytic activity; oxidoreductase activity; steroid catabolic process; cellular metabolic process; metabolic process; protein binding; cytosol; steroid biosynthetic process; 3-beta-hydroxy-delta5-steroid dehydrogenase activity; testosterone 17-beta-dehydrogenase (NADP+) activity; coenzyme binding; centrosome
Homolog in other species HSD17B14
Omim http://omim.org/entry/612832
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030825
Chromosome 7
Coordinate 45,566,713     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 24
Allele Frequency
A:R0.62
G:V0.38
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL00486
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.46
Polyphen Prediction Possibly damaging

 Availability Details 
Availability