|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 1, subfamily a, polypeptide 1|
|Synonyms||P450-1, cytochrome P450 subfamily I, polypeptide 1|
|Is this an essential gene?||Probably non essential (E-score: 0.073)|
|Stock #||R8171 (G1)|
|Chromosomal Location||57687928-57703824 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 57700196 bp|
|Amino Acid Change||Tryptophan to Arginine at position 36 (W36R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034865 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034865]|
|Predicted Effect||probably benign
AA Change: W36R
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: W36R
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP1A1, 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 and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele display resitance to some signs of TCDD induced toxicity but do not display any gross abnormalities in the abscence of treatment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp1a1||
(F):5'- AGGAAGGCTTCTCTTTCCCC -3'
(R):5'- TGAAGCTGTAGAGGTCTGGC -3'
(F):5'- ACACTTTAGGATATTTATACCCTCGC -3'
(R):5'- TCACCAGGGCCTGCTTGATG -3'