|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 1, subfamily b, polypeptide 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.473)|
|Stock #||R4706 (G1)|
|Chromosomal Location||79706953-79715041 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 79713342 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 324 (I324F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024894 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024894]|
|Predicted Effect||possibly damaging
AA Change: I324F
PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: I324F
|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. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp1b1||
(F):5'- GAACCCGGCCTTATCTTACC -3'
(R):5'- CCGCAACTTCAGCAACTTCG -3'
(F):5'- AGATCTCAGTTTCGAGGAATTGG -3'
(R):5'- GCAACTTCGTTCTGGACAAG -3'