Incidental Mutation 'R3940:Fmo3'
ID 307396
Institutional Source Beutler Lab
Gene Symbol Fmo3
Ensembl Gene ENSMUSG00000026691
Gene Name flavin containing monooxygenase 3
Synonyms
MMRRC Submission 040922-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3940 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 162781369-162812097 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 162791555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 241 (T241S)
Ref Sequence ENSEMBL: ENSMUSP00000028010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028010]
AlphaFold P97501
Predicted Effect probably benign
Transcript: ENSMUST00000028010
AA Change: T241S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028010
Gene: ENSMUSG00000026691
AA Change: T241S

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
Meta Mutation Damage Score 0.1301 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (35/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Acsm3 A G 7: 119,373,109 (GRCm39) E204G probably benign Het
Acta2 A T 19: 34,220,880 (GRCm39) I276N possibly damaging Het
Ankrd16 T C 2: 11,789,192 (GRCm39) C260R probably benign Het
Ankrd42 T C 7: 92,240,996 (GRCm39) probably null Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Calm5 A T 13: 3,904,485 (GRCm39) I37F possibly damaging Het
Casq1 A G 1: 172,047,103 (GRCm39) V52A possibly damaging Het
Col22a1 A T 15: 71,853,782 (GRCm39) L260* probably null Het
Cttnbp2 C A 6: 18,420,974 (GRCm39) V846L probably benign Het
Dnah12 A G 14: 26,444,754 (GRCm39) T627A probably benign Het
Eogt T C 6: 97,090,875 (GRCm39) I421M probably damaging Het
Fam135a T A 1: 24,096,556 (GRCm39) H63L probably damaging Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gm14393 T C 2: 174,903,420 (GRCm39) probably null Het
Kcna5 C T 6: 126,510,614 (GRCm39) V505I probably damaging Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Or7a41 T A 10: 78,871,038 (GRCm39) I136N probably damaging Het
Or8k40 T A 2: 86,584,275 (GRCm39) D269V possibly damaging Het
Pcdhb7 T C 18: 37,477,021 (GRCm39) L719P probably damaging Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pik3ip1 A G 11: 3,281,987 (GRCm39) N48S probably damaging Het
Pkn2 G A 3: 142,499,672 (GRCm39) S951L probably damaging Het
Prrc2a T C 17: 35,376,474 (GRCm39) H772R possibly damaging Het
Ric1 T C 19: 29,548,162 (GRCm39) Y277H probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf123 A T 9: 107,941,234 (GRCm39) probably benign Het
Robo1 T C 16: 72,806,631 (GRCm39) S1166P probably benign Het
S100a10 A G 3: 93,468,383 (GRCm39) E38G probably benign Het
Slc34a1 A T 13: 55,560,983 (GRCm39) I483F probably damaging Het
Stim1 A G 7: 102,084,848 (GRCm39) N600S probably benign Het
Ube3c T A 5: 29,824,358 (GRCm39) N517K 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
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
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
Predicted Primers PCR Primer
(F):5'- GTGGAAATCAGTCCCAATATTTGC -3'
(R):5'- TCCCTAGAGATGCAGAAGGC -3'

Sequencing Primer
(F):5'- GTGATTACAACACACATCAAGGGTTG -3'
(R):5'- GCAGAAGGCACCCTACAATGAG -3'
Posted On 2015-04-17