Cyp39a1 - SNV Details



 Gene Information 
Gene Name Cyp39a1
Gene Description cytochrome P450, family 39, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1927096]
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; steroid 7-alpha-hydroxylase activity; bile acid biosynthetic process; endoplasmic reticulum membrane; 24-hydroxycholesterol 7alpha-hydroxylase activity; cholesterol catabolic process; intracellular membrane-bounded organelle; bile acid catabolic process; oxysterol 7-alpha-hydroxylase activity; heme binding; digestion; oxidoreductase activity
acting on paired donors
with incorporation or reduction of molecular oxygen; electron carrier activity; iron ion binding
Homolog in other species CYP39A1
Omim http://omim.org/entry/605994
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023963
Chromosome 17
Coordinate 43,683,022     (Assembly: GRCm38)    
Ref Base A
Codon Change aAg/aGg
Var Base G
Zygosity Heterozygous
Read Depth 68
Allele Frequency
A:R0.53
G:V0.47
Amino Acid Position 191
Amino Acid Change K->R (Lysine -> Arginine)
Sample ID IGL01070
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.54
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000130073:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Cytochrome P450 Cyt_P450 IPR001128 ENSMUSP00000130073 Pfam 33
457 Description available Search pathways
Cytochrome P450 Cyt_P450 IPR001128 ENSMUSP00000130073 Superfamily 32
469 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved