Incidental Mutation 'IGL01943:Fmo3'
ID 180924
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 # IGL01943
Quality Score
Status
Chromosome 1
Chromosomal Location 162781369-162812097 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 162794575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 165 (R165H)
Ref Sequence ENSEMBL: ENSMUSP00000028010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028010]
AlphaFold P97501
Predicted Effect probably benign
Transcript: ENSMUST00000028010
AA Change: R165H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000028010
Gene: ENSMUSG00000026691
AA Change: R165H

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,315,459 (GRCm39) K169E probably benign Het
Ago4 A G 4: 126,410,988 (GRCm39) V167A probably damaging Het
Bcam C T 7: 19,499,423 (GRCm39) R200H probably damaging Het
Cblb G A 16: 51,959,996 (GRCm39) probably null Het
Cdc37 T C 9: 21,054,409 (GRCm39) E72G probably benign Het
Chek2 T A 5: 110,989,093 (GRCm39) probably benign Het
Col6a1 A T 10: 76,554,957 (GRCm39) probably null Het
Col7a1 A G 9: 108,813,084 (GRCm39) probably null Het
Ecpas A G 4: 58,849,937 (GRCm39) F429L possibly damaging Het
Gm2663 C T 6: 40,973,010 (GRCm39) G199D probably damaging Het
Gm8108 T C 14: 4,127,217 (GRCm38) S134P probably damaging Het
Kif1b A T 4: 149,299,362 (GRCm39) probably null Het
Krt76 T A 15: 101,797,480 (GRCm39) D293V probably null Het
Lifr T A 15: 7,217,630 (GRCm39) C853S probably damaging Het
Muc5b A T 7: 141,415,234 (GRCm39) I2727F possibly damaging Het
Myo7a T C 7: 97,714,854 (GRCm39) K1606R possibly damaging Het
Noxred1 G T 12: 87,269,955 (GRCm39) Q259K probably benign Het
Obox3 C T 7: 15,360,777 (GRCm39) E121K probably benign Het
Or14j1 G A 17: 38,145,944 (GRCm39) R18H probably benign Het
Or1j19 T C 2: 36,677,095 (GRCm39) I186T probably benign Het
Or2y16 T A 11: 49,335,015 (GRCm39) C112* probably null Het
Or5b24 T C 19: 12,913,038 (GRCm39) L312S probably benign Het
Phf11 A T 14: 59,488,611 (GRCm39) V62E probably damaging Het
Pkd2l2 T C 18: 34,550,089 (GRCm39) F245L probably damaging Het
Pla2g6 T C 15: 79,197,316 (GRCm39) Q86R probably null Het
Polq T A 16: 36,881,805 (GRCm39) I1044K possibly damaging Het
Pomgnt2 G T 9: 121,811,536 (GRCm39) T415N probably benign Het
Pprc1 T A 19: 46,052,983 (GRCm39) probably benign Het
Prol1 T A 5: 88,475,820 (GRCm39) M70K probably benign Het
Ptpn22 T A 3: 103,793,652 (GRCm39) V601E probably benign Het
Slc16a3 T C 11: 120,847,709 (GRCm39) probably null Het
Slco1b2 A G 6: 141,622,012 (GRCm39) D489G possibly damaging Het
Sphk2 T C 7: 45,360,148 (GRCm39) probably benign Het
Stat4 C T 1: 52,136,014 (GRCm39) T441I possibly damaging Het
Tle1 A T 4: 72,040,639 (GRCm39) V647E probably damaging Het
Tnrc6b C A 15: 80,811,896 (GRCm39) Y814* probably null Het
Tubgcp3 A G 8: 12,704,301 (GRCm39) F256S probably damaging Het
Uqcrb A T 13: 67,050,827 (GRCm39) probably null Het
Vmn1r200 A T 13: 22,580,097 (GRCm39) E300V possibly damaging Het
Zfp324 C T 7: 12,702,713 (GRCm39) probably benign Het
Zxdc T C 6: 90,349,520 (GRCm39) 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
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 2014-05-07