|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 4, subfamily b, polypeptide 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7584 (G1)|
|Chromosomal Location||115624725-115647723 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 115628687 bp|
|Amino Acid Change||Aspartic acid to Valine at position 351 (D351V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099768 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102707]|
|Predicted Effect||probably damaging
AA Change: D351V
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: D351V
|Predicted Effect||probably benign
AA Change: D275V
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
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 protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to 4-ipomeanol activation and toxicity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp4b1||
(F):5'- TTAGCCCGCAAGAAAGCTATAC -3'
(R):5'- CAGCTACTGTTGGGCATTCTTC -3'
(F):5'- CAACAACAATAAGAAACAAATGCTGC -3'
(R):5'- GTTGGGCATTCTTCTCATCCCTAAC -3'