|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 7, subfamily a, polypeptide 1|
|Synonyms||cholesterol 7 alpha hydroxylase|
|Is this an essential gene?||Possibly non essential (E-score: 0.328)|
|Stock #||R5987 (G1)|
|Chromosomal Location||6265612-6275633 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 6268476 bp|
|Amino Acid Change||Serine to Arginine at position 416 (S416R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029905 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029905]|
|Predicted Effect||probably benign
AA Change: S416R
PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: S416R
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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 membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for disruption of this gene experience severe neonatal and postnatal lethality. Supplementation of the maternal diet with fat soluble vitamins and cholic acid starting before birth alleviates much of the phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp7a1||
(F):5'- TGGTGTGGCTCTCTACAAGC -3'
(R):5'- GAGGTACCAAGAGCTACTAATTCCTC -3'
(F):5'- GTGTGGCTCTCTACAAGCTCCAG -3'
(R):5'- AAGAGCTACTAATTCCTCCTGCTC -3'