Hsd17b4 - SNV Details



 Human Rare Diseases 
Perrault syndrome
Bifunctional enzyme deficiency

 Gene Information 
Gene Name Hsd17b4
Old Gene Names for Hsd17b4 Aw208803
Gene Description hydroxysteroid (17-beta) dehydrogenase 4 [Source:MGI Symbol;Acc:MGI:105089]
MGI phenotype Mice homozygous for disruptions in this gene have abnormalities infatty acid metabolism. The mice have retarded growth and abnormal bile salt composition.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; oxidoreductase activity
acting on the CH-OH group of donors
NAD or NADP as acceptor; Sertoli cell development; oxidoreductase activity; very long-chain fatty acid metabolic process; metabolic process; sterol binding; intracellular membrane-bounded organelle; nucleotide binding; isomerase activity; fatty acid beta-oxidation; 3alpha
7alpha
12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity; peroxisome
Homolog in other species HSD17B4
Omim http://omim.org/entry/601860
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
HIGH(HIGHER IN IMM GROUPS, OESTEO GROUP, EPITH GROUP, BLADDER, UTERUS, OVARY, LUNG, TRACHEA AND ADIPOSETISSUE, PROSTATE, UMBLICALCORD)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024507
Chromosome 18
Coordinate 50,160,164     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 14
Allele Frequency
G:R0.64
A:V0.36
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL02527
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved