|Institutional Source||Beutler Lab|
|Gene Name||flavin containing monooxygenase 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2363 (G1)|
|Chromosomal Location||162953800-162984528 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 162954315 bp|
|Amino Acid Change||Tryptophan to Arginine at position 490 (W490R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028010 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028010]|
|Predicted Effect||probably damaging
AA Change: W490R
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: W490R
|Meta Mutation Damage Score||0.3375|
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fmo3||
(F):5'- TCTGGCAAAAGATCTTGAACAGG -3'
(R):5'- TGGATGAACTGGCCTCCTTC -3'
(F):5'- AATAGCAAAGTTCTTGTCTGGTTG -3'
(R):5'- TTCATTGGTGCAAAGCCCAATC -3'