Cyp26a1 - SNV Details



 Gene Information 
Gene Name Cyp26a1
Old Gene Names for Cyp26a1 Cyp26
Gene Description cytochrome P450, family 26, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1096359]
MGI phenotype Homozygotes for targeted null mutations die during mid-late gestation and exhibit spina bifida, caudal agenesis, and abnormalities of the kidneys, urogenital tract, hindgut, cervical vertebrae, and rostral hindbrain.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; anterior/posterior pattern specification; retinoic acid receptor signaling pathway; endoplasmic reticulum membrane; retinoic acid 4-hydroxylase activity; neural crest cell development; cellular response to retinoic acid; heme binding; retinoic acid catabolic process; oxidoreductase activity
acting on paired donors
with incorporation or reduction of molecular oxygen; retinoic acid metabolic process; central nervous system development; electron carrier activity; retinoic acid binding; iron ion binding
Homolog in other species CYP26A1
Omim http://omim.org/entry/602239
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN(HIGH IN EMB GROUP, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024987
Chromosome 19
Coordinate 37,700,019     (Assembly: GRCm38)    
Ref Base A
Codon Change Ata/Gta
Var Base G
Zygosity Heterozygous
Read Depth 41
Allele Frequency
A:R0.63
G:V0.37
Amino Acid Position 330
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL02398
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.05
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000025946:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Cytochrome P450 Cyt_P450 IPR001128 ENSMUSP00000025946 Superfamily 42
492 Description available Search pathways
Cytochrome P450 Cyt_P450 IPR001128 ENSMUSP00000025946 Pfam 45
470 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved