Incidental Mutation 'IGL00975:Fmo3'
ID 26755
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 # IGL00975
Quality Score
Status
Chromosome 1
Chromosomal Location 162781369-162812097 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 162791599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 226 (D226G)
Ref Sequence ENSEMBL: ENSMUSP00000028010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028010]
AlphaFold P97501
Predicted Effect probably benign
Transcript: ENSMUST00000028010
AA Change: D226G

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028010
Gene: ENSMUSG00000026691
AA Change: D226G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142759
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn10 A T 15: 85,220,666 (GRCm39) M1L probably benign Het
Atxn7l3 A G 11: 102,185,807 (GRCm39) S3P probably benign Het
Cep112 A G 11: 108,325,012 (GRCm39) D70G probably damaging Het
Col20a1 G A 2: 180,634,271 (GRCm39) A79T probably damaging Het
Cycs T A 6: 50,542,347 (GRCm39) D63V probably benign Het
Dis3 A G 14: 99,316,670 (GRCm39) V855A probably damaging Het
Dnah6 T A 6: 73,150,373 (GRCm39) I797F possibly damaging Het
Dpagt1 T C 9: 44,243,949 (GRCm39) probably null Het
Dst T C 1: 34,227,393 (GRCm39) I1840T possibly damaging Het
Epb41l3 C T 17: 69,514,856 (GRCm39) probably benign Het
Fam20c C T 5: 138,794,912 (GRCm39) H514Y probably benign Het
Fgd6 A T 10: 93,969,938 (GRCm39) M1196L probably damaging Het
Fsd1l T C 4: 53,682,187 (GRCm39) L263P probably damaging Het
Gaa C A 11: 119,165,509 (GRCm39) T333K possibly damaging Het
Gm10530 T C 1: 159,512,444 (GRCm39) probably benign Het
Gm5458 A G 14: 19,649,735 (GRCm39) L163P Het
Inpp5j T C 11: 3,452,176 (GRCm39) N358S probably damaging Het
Ms4a8a A G 19: 11,048,151 (GRCm39) L193P probably damaging Het
Neb T C 2: 52,102,740 (GRCm39) K4511R probably benign Het
Odad1 A T 7: 45,592,080 (GRCm39) K320I probably damaging Het
Or5an10 A G 19: 12,276,149 (GRCm39) S116P probably damaging Het
Pcca A G 14: 123,114,312 (GRCm39) D82G probably damaging Het
Pou2f3 T C 9: 43,048,679 (GRCm39) T266A probably benign Het
Ppp1r26 T A 2: 28,343,730 (GRCm39) L1120Q probably damaging Het
Pudp T G 18: 50,701,349 (GRCm39) K128T probably damaging Het
Rcn1 T C 2: 105,225,174 (GRCm39) T94A possibly damaging Het
Six5 T C 7: 18,831,603 (GRCm39) L698P probably damaging Het
Slc13a4 T A 6: 35,251,910 (GRCm39) M461L probably benign Het
Slc30a9 T C 5: 67,507,169 (GRCm39) V487A probably damaging Het
Tbx21 T C 11: 96,990,908 (GRCm39) I257V possibly damaging Het
Tg A G 15: 66,553,731 (GRCm39) D382G probably benign Het
Trim34b C A 7: 103,978,859 (GRCm39) C35* probably null Het
Usp47 A G 7: 111,692,577 (GRCm39) D1013G probably damaging Het
Other mutations in Fmo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02489:Fmo3 APN 1 162,781,856 (GRCm39) missense possibly damaging 0.75
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 2013-04-17