|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 8, subfamily b, polypeptide 1|
|Essential gene?||Possibly non essential (E-score: 0.266)|
|Stock #||R7223 (G1)|
|Chromosomal Location||121914356-121916305 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 121915097 bp (GRCm38)|
|Amino Acid Change||Histidine to Tyrosine at position 390 (H390Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052989 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050327] [ENSMUST00000062474] [ENSMUST00000214340]|
|AlphaFold||no structure available at present|
AA Change: H390Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H390Y
|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 conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele lack synthsesis of cholate (a primary bile acid) and its metabolites and display an increased bile acid pool and alterations in cholesterol metabolism. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp8b1||
(F):5'- CAAAGGTCTTCATCTCGCTGAG -3'
(R):5'- CTGGAAGCCAAGAAGTCGTTCAC -3'
(F):5'- TCTTCATCTCGCTGAGGGCAAAG -3'
(R):5'- GCCAAGAAGTCGTTCACTTTCAC -3'