Incidental Mutation 'IGL00975:Fmo3'
ID26755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmo3
Ensembl Gene ENSMUSG00000026691
Gene Nameflavin containing monooxygenase 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL00975
Quality Score
Status
Chromosome1
Chromosomal Location162953800-162984528 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 162964030 bp
ZygosityHeterozygous
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]
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: 85,336,465 M1L probably benign Het
Atxn7l3 A G 11: 102,294,981 S3P probably benign Het
Ccdc114 A T 7: 45,942,656 K320I probably damaging Het
Cep112 A G 11: 108,434,186 D70G probably damaging Het
Col20a1 G A 2: 180,992,478 A79T probably damaging Het
Cycs T A 6: 50,565,367 D63V probably benign Het
Dis3 A G 14: 99,079,234 V855A probably damaging Het
Dnah6 T A 6: 73,173,390 I797F possibly damaging Het
Dpagt1 T C 9: 44,332,652 probably null Het
Dst T C 1: 34,188,312 I1840T possibly damaging Het
Epb41l3 C T 17: 69,207,861 probably benign Het
Fam20c C T 5: 138,809,157 H514Y probably benign Het
Fgd6 A T 10: 94,134,076 M1196L probably damaging Het
Fsd1l T C 4: 53,682,187 L263P probably damaging Het
Gaa C A 11: 119,274,683 T333K possibly damaging Het
Gm10530 T C 1: 159,684,874 probably benign Het
Gm5458 A G 14: 19,599,667 L163P probably damaging Het
Inpp5j T C 11: 3,502,176 N358S probably damaging Het
Ms4a8a A G 19: 11,070,787 L193P probably damaging Het
Neb T C 2: 52,212,728 K4511R probably benign Het
Olfr1436 A G 19: 12,298,785 S116P probably damaging Het
Pcca A G 14: 122,876,900 D82G probably damaging Het
Pou2f3 T C 9: 43,137,384 T266A probably benign Het
Ppp1r26 T A 2: 28,453,718 L1120Q probably damaging Het
Pudp T G 18: 50,568,278 K128T probably damaging Het
Rcn1 T C 2: 105,394,829 T94A possibly damaging Het
Six5 T C 7: 19,097,678 L698P probably damaging Het
Slc13a4 T A 6: 35,274,975 M461L probably benign Het
Slc30a9 T C 5: 67,349,826 V487A probably damaging Het
Tbx21 T C 11: 97,100,082 I257V possibly damaging Het
Tg A G 15: 66,681,882 D382G probably benign Het
Trim34b C A 7: 104,329,652 C35* probably null Het
Usp47 A G 7: 112,093,370 D1013G probably damaging Het
Other mutations in Fmo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Fmo3 APN 1 162958261 missense probably damaging 1.00
IGL01645:Fmo3 APN 1 162964006 missense possibly damaging 0.53
IGL01710:Fmo3 APN 1 162983043 missense probably damaging 1.00
IGL01943:Fmo3 APN 1 162967006 missense probably benign 0.01
IGL02489:Fmo3 APN 1 162954287 missense possibly damaging 0.75
IGL02503:Fmo3 APN 1 162968864 missense probably benign 0.03
IGL02743:Fmo3 APN 1 162958483 missense probably damaging 1.00
IGL02974:Fmo3 APN 1 162983050 missense probably damaging 1.00
IGL03023:Fmo3 APN 1 162958465 missense probably benign 0.00
R0554:Fmo3 UTSW 1 162954332 missense probably benign 0.03
R0629:Fmo3 UTSW 1 162958227 splice site probably benign
R1209:Fmo3 UTSW 1 162964028 missense probably benign 0.00
R1213:Fmo3 UTSW 1 162967823 missense probably damaging 1.00
R1612:Fmo3 UTSW 1 162967885 missense probably damaging 1.00
R1636:Fmo3 UTSW 1 162954425 missense probably benign
R1710:Fmo3 UTSW 1 162967787 missense possibly damaging 0.59
R1764:Fmo3 UTSW 1 162958573 missense possibly damaging 0.79
R1775:Fmo3 UTSW 1 162968725 missense possibly damaging 0.54
R1906:Fmo3 UTSW 1 162966906 missense probably damaging 1.00
R2363:Fmo3 UTSW 1 162954315 missense probably damaging 0.98
R2418:Fmo3 UTSW 1 162966958 missense probably benign
R2519:Fmo3 UTSW 1 162958305 missense probably damaging 1.00
R3940:Fmo3 UTSW 1 162963986 missense probably benign 0.01
R3977:Fmo3 UTSW 1 162958578 missense probably damaging 0.99
R4779:Fmo3 UTSW 1 162968838 missense probably damaging 1.00
R4846:Fmo3 UTSW 1 162954311 missense possibly damaging 0.94
R4892:Fmo3 UTSW 1 162968731 missense probably benign 0.00
R5102:Fmo3 UTSW 1 162963977 missense probably benign 0.01
R5516:Fmo3 UTSW 1 162954426 nonsense probably null
R6035:Fmo3 UTSW 1 162964036 missense probably damaging 0.97
R6035:Fmo3 UTSW 1 162964036 missense probably damaging 0.97
R7050:Fmo3 UTSW 1 162963904 missense probably damaging 0.98
R7088:Fmo3 UTSW 1 162968865 missense probably benign 0.04
Posted On2013-04-17