|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 19, subfamily a, polypeptide 1|
|Synonyms||Cyp19, ArKO, Int-5, aromatase, p450arom, Int5, Ar|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4693 (G1)|
|Chromosomal Location||54165937-54268110 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 54173333 bp|
|Amino Acid Change||Serine to Threonine at position 247 (S247T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034811 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034811] [ENSMUST00000215736]|
|Predicted Effect||possibly damaging
AA Change: S247T
PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: S247T
|Predicted Effect||probably benign
AA Change: S180T
PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|Meta Mutation Damage Score||0.0940|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
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 and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for various mutations that inactivate the gene exhibit defects affecting fertility including impairments of ovulation, spermiogenesis and mounting behavior. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp19a1||
(F):5'- AGAGGCTTCCTTTGTCCTCTGG -3'
(R):5'- GTATAGTCTGCGTCCACTGG -3'
(F):5'- TGGTCTGTCCCAGTGCAG -3'
(R):5'- ACTGGCGACCCAAGACTG -3'