|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 51|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3975 (G1)|
|Chromosomal Location||4081145-4104746 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 4091877 bp|
|Amino Acid Change||Glycine to Serine at position 346 (G346S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001507 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001507]|
|Predicted Effect||probably damaging
AA Change: G346S
PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: G346S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||95% (59/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit skeletal and craniofacial abnormalities and die at late midgestation due to heart failure resulting from cardiac hypoplasia, ventricle septum, epicardial and vasculogenesis defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp51||
(F):5'- TCGAGCTGTGAGAACCACTG -3'
(R):5'- TCTGCCCAGATGTTAAGTGTG -3'
(F):5'- GAACCACTGTTCTGTACTCAGTAC -3'
(R):5'- GTGGTTCATCTCCAGGGAC -3'