Incidental Mutation 'IGL02489:Fmo3'
ID 295543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmo3
Ensembl Gene ENSMUSG00000026691
Gene Name flavin containing monooxygenase 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02489
Quality Score
Status
Chromosome 1
Chromosomal Location 162781369-162812097 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 162781856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 499 (T499K)
Ref Sequence ENSEMBL: ENSMUSP00000028010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028010]
AlphaFold P97501
Predicted Effect possibly damaging
Transcript: ENSMUST00000028010
AA Change: T499K

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028010
Gene: ENSMUSG00000026691
AA Change: T499K

DomainStartEndE-ValueType
Pfam:FMO-like 2 534 7.7e-286 PFAM
Pfam:Pyr_redox_2 3 245 4.4e-15 PFAM
Pfam:Pyr_redox_3 6 220 1.1e-11 PFAM
Pfam:NAD_binding_8 7 71 3.1e-7 PFAM
Pfam:K_oxygenase 79 224 6.7e-9 PFAM
Coding Region Coverage
Validation Efficiency
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
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,780,847 (GRCm39) probably benign Het
Aldh6a1 T C 12: 84,480,746 (GRCm39) T430A possibly damaging Het
Ankrd6 T C 4: 32,810,298 (GRCm39) D426G probably damaging Het
Arhgef37 A G 18: 61,639,540 (GRCm39) S280P possibly damaging Het
Bicd1 T C 6: 149,414,535 (GRCm39) L416P probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cenpp T C 13: 49,803,594 (GRCm39) probably null Het
Col5a2 T C 1: 45,431,971 (GRCm39) probably null Het
Ctsa A G 2: 164,680,565 (GRCm39) Y402C probably damaging Het
Dnah7a A G 1: 53,686,481 (GRCm39) V223A possibly damaging Het
Dnajb3 G T 1: 88,133,032 (GRCm39) N123K probably benign Het
Fhad1 G T 4: 141,684,931 (GRCm39) N469K probably damaging Het
Gm10100 G A 10: 77,562,645 (GRCm39) C109Y probably benign Het
Lrrc27 G T 7: 138,805,977 (GRCm39) R214L probably benign Het
Mc5r T A 18: 68,472,597 (GRCm39) C319S probably damaging Het
Nwd2 A C 5: 63,962,570 (GRCm39) Y718S probably damaging Het
Or8h7 T G 2: 86,721,339 (GRCm39) Y60S probably damaging Het
Ppa1 T A 10: 61,501,223 (GRCm39) D163E probably damaging Het
Ptprk G T 10: 28,259,468 (GRCm39) G303W probably damaging Het
Rnf182 T C 13: 43,821,779 (GRCm39) L110P probably damaging Het
Slc12a2 T C 18: 58,045,074 (GRCm39) F659S probably damaging Het
Slc5a3 T A 16: 91,874,593 (GRCm39) Y217N possibly damaging Het
Ttc41 G T 10: 86,596,778 (GRCm39) E1008* probably null Het
Unc80 T C 1: 66,564,860 (GRCm39) M849T probably benign Het
Vmn2r76 A T 7: 85,878,071 (GRCm39) I442N probably benign Het
Other mutations in Fmo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Fmo3 APN 1 162,791,599 (GRCm39) missense probably benign 0.15
IGL01124:Fmo3 APN 1 162,785,830 (GRCm39) missense probably damaging 1.00
IGL01645:Fmo3 APN 1 162,791,575 (GRCm39) missense possibly damaging 0.53
IGL01710:Fmo3 APN 1 162,810,612 (GRCm39) missense probably damaging 1.00
IGL01943:Fmo3 APN 1 162,794,575 (GRCm39) missense probably benign 0.01
IGL02503:Fmo3 APN 1 162,796,433 (GRCm39) missense probably benign 0.03
IGL02743:Fmo3 APN 1 162,786,052 (GRCm39) missense probably damaging 1.00
IGL02974:Fmo3 APN 1 162,810,619 (GRCm39) missense probably damaging 1.00
IGL03023:Fmo3 APN 1 162,786,034 (GRCm39) missense probably benign 0.00
R0554:Fmo3 UTSW 1 162,781,901 (GRCm39) missense probably benign 0.03
R0629:Fmo3 UTSW 1 162,785,796 (GRCm39) splice site probably benign
R1209:Fmo3 UTSW 1 162,791,597 (GRCm39) missense probably benign 0.00
R1213:Fmo3 UTSW 1 162,795,392 (GRCm39) missense probably damaging 1.00
R1612:Fmo3 UTSW 1 162,795,454 (GRCm39) missense probably damaging 1.00
R1636:Fmo3 UTSW 1 162,781,994 (GRCm39) missense probably benign
R1710:Fmo3 UTSW 1 162,795,356 (GRCm39) missense possibly damaging 0.59
R1764:Fmo3 UTSW 1 162,786,142 (GRCm39) missense possibly damaging 0.79
R1775:Fmo3 UTSW 1 162,796,294 (GRCm39) missense possibly damaging 0.54
R1906:Fmo3 UTSW 1 162,794,475 (GRCm39) missense probably damaging 1.00
R2363:Fmo3 UTSW 1 162,781,884 (GRCm39) missense probably damaging 0.98
R2418:Fmo3 UTSW 1 162,794,527 (GRCm39) missense probably benign
R2519:Fmo3 UTSW 1 162,785,874 (GRCm39) missense probably damaging 1.00
R3940:Fmo3 UTSW 1 162,791,555 (GRCm39) missense probably benign 0.01
R3977:Fmo3 UTSW 1 162,786,147 (GRCm39) missense probably damaging 0.99
R4779:Fmo3 UTSW 1 162,796,407 (GRCm39) missense probably damaging 1.00
R4846:Fmo3 UTSW 1 162,781,880 (GRCm39) missense possibly damaging 0.94
R4892:Fmo3 UTSW 1 162,796,300 (GRCm39) missense probably benign 0.00
R5102:Fmo3 UTSW 1 162,791,546 (GRCm39) missense probably benign 0.01
R5516:Fmo3 UTSW 1 162,781,995 (GRCm39) nonsense probably null
R6035:Fmo3 UTSW 1 162,791,605 (GRCm39) missense probably damaging 0.97
R6035:Fmo3 UTSW 1 162,791,605 (GRCm39) missense probably damaging 0.97
R7050:Fmo3 UTSW 1 162,791,473 (GRCm39) missense probably damaging 0.98
R7088:Fmo3 UTSW 1 162,796,434 (GRCm39) missense probably benign 0.04
R7205:Fmo3 UTSW 1 162,781,857 (GRCm39) missense possibly damaging 0.90
R7371:Fmo3 UTSW 1 162,781,796 (GRCm39) missense possibly damaging 0.57
R7685:Fmo3 UTSW 1 162,785,901 (GRCm39) missense possibly damaging 0.73
R8458:Fmo3 UTSW 1 162,794,509 (GRCm39) missense possibly damaging 0.89
R8821:Fmo3 UTSW 1 162,796,407 (GRCm39) missense probably damaging 1.00
R9371:Fmo3 UTSW 1 162,796,281 (GRCm39) missense probably benign 0.18
R9564:Fmo3 UTSW 1 162,786,021 (GRCm39) missense probably damaging 1.00
R9764:Fmo3 UTSW 1 162,794,524 (GRCm39) missense probably benign
Posted On 2015-04-16