Incidental Mutation 'IGL01926:Fmo5'
ID 180313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmo5
Ensembl Gene ENSMUSG00000028088
Gene Name flavin containing monooxygenase 5
Synonyms 5033418D19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL01926
Quality Score
Status
Chromosome 3
Chromosomal Location 97536120-97562598 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 97544797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 109 (T109P)
Ref Sequence ENSEMBL: ENSMUSP00000102665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029729] [ENSMUST00000107049] [ENSMUST00000107050]
AlphaFold P97872
Predicted Effect probably damaging
Transcript: ENSMUST00000029729
AA Change: T109P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029729
Gene: ENSMUSG00000028088
AA Change: T109P

DomainStartEndE-ValueType
Pfam:FMO-like 3 533 9.7e-280 PFAM
Pfam:Pyr_redox_2 5 224 3.4e-8 PFAM
Pfam:Pyr_redox_3 7 221 2.2e-21 PFAM
Pfam:NAD_binding_8 8 69 1.7e-6 PFAM
Pfam:K_oxygenase 81 223 9.6e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107049
AA Change: T109P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102664
Gene: ENSMUSG00000028088
AA Change: T109P

DomainStartEndE-ValueType
Pfam:FMO-like 3 533 9.7e-280 PFAM
Pfam:Pyr_redox_2 5 224 3.4e-8 PFAM
Pfam:Pyr_redox_3 7 221 2.2e-21 PFAM
Pfam:NAD_binding_8 8 69 1.7e-6 PFAM
Pfam:K_oxygenase 81 223 9.6e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107050
AA Change: T109P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102665
Gene: ENSMUSG00000028088
AA Change: T109P

DomainStartEndE-ValueType
Pfam:FMO-like 3 533 9.7e-280 PFAM
Pfam:Pyr_redox_2 4 228 8.5e-11 PFAM
Pfam:Pyr_redox_3 7 221 4.7e-11 PFAM
Pfam:NAD_binding_8 8 70 3.5e-7 PFAM
Pfam:K_oxygenase 80 222 2.9e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140283
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-out allele show an age-related lean phenotype despite increased food intake, lower plasma levels of glucose and cholesterol, decreased fat storage in WAT, altered fatty acid oxidation, increased energy expenditure and respiratory quotient but normal physical activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,026,155 (GRCm39) probably benign Het
Ano1 C T 7: 144,164,612 (GRCm39) V671M possibly damaging Het
Atf7ip2 G T 16: 10,059,749 (GRCm39) D430Y probably damaging Het
Atp7b A T 8: 22,501,797 (GRCm39) D740E probably damaging Het
Bbs1 A C 19: 4,952,891 (GRCm39) S191A probably benign Het
Capn5 C T 7: 97,777,679 (GRCm39) probably null Het
Cyp2c40 A G 19: 39,791,099 (GRCm39) I244T probably benign Het
Dsg1a G T 18: 20,466,641 (GRCm39) D504Y possibly damaging Het
Eif3a T C 19: 60,758,399 (GRCm39) D793G unknown Het
Exoc4 C A 6: 33,839,077 (GRCm39) D704E probably damaging Het
Ggt5 A G 10: 75,439,935 (GRCm39) I179V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Irs1 G T 1: 82,267,680 (GRCm39) R179S probably damaging Het
Jmy A T 13: 93,596,294 (GRCm39) V445E probably damaging Het
Jup C A 11: 100,274,412 (GRCm39) V93F probably benign Het
Krt20 T C 11: 99,328,652 (GRCm39) Y91C probably damaging Het
Mug2 T A 6: 122,013,063 (GRCm39) probably benign Het
Mybpc3 C T 2: 90,965,752 (GRCm39) T1188I possibly damaging Het
Myt1 T C 2: 181,463,790 (GRCm39) L1032P probably benign Het
Naip6 A T 13: 100,436,704 (GRCm39) N606K probably damaging Het
Nfrkb A T 9: 31,325,475 (GRCm39) M973L probably benign Het
Or5aq6 C T 2: 86,923,318 (GRCm39) C141Y probably damaging Het
Or5b120 A T 19: 13,480,105 (GRCm39) T133S possibly damaging Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Plekha5 T A 6: 140,471,642 (GRCm39) M131K probably benign Het
Pomt1 T A 2: 32,133,484 (GRCm39) S207T probably benign Het
Prlr T A 15: 10,314,306 (GRCm39) M1K probably null Het
Prr15 A G 6: 54,306,490 (GRCm39) K83E probably damaging Het
Rnf4 A G 5: 34,504,123 (GRCm39) N5S probably benign Het
Sel1l3 T A 5: 53,357,485 (GRCm39) H169L probably benign Het
Slc24a5 A G 2: 124,910,823 (GRCm39) I85V probably benign Het
Tmc2 T C 2: 130,102,160 (GRCm39) I775T possibly damaging Het
Trnau1ap A T 4: 132,046,873 (GRCm39) F141L probably benign Het
Zscan4d A G 7: 10,898,921 (GRCm39) C119R probably damaging Het
Zswim9 A T 7: 12,994,248 (GRCm39) V636D possibly damaging Het
Other mutations in Fmo5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Fmo5 APN 3 97,558,884 (GRCm39) missense probably benign 0.19
IGL03062:Fmo5 APN 3 97,542,909 (GRCm39) missense probably damaging 1.00
IGL03215:Fmo5 APN 3 97,549,122 (GRCm39) missense probably benign
IGL03323:Fmo5 APN 3 97,546,323 (GRCm39) splice site probably null
PIT4445001:Fmo5 UTSW 3 97,558,844 (GRCm39) missense probably benign 0.30
R0133:Fmo5 UTSW 3 97,552,952 (GRCm39) missense probably damaging 0.99
R0207:Fmo5 UTSW 3 97,552,997 (GRCm39) missense probably damaging 1.00
R0570:Fmo5 UTSW 3 97,536,456 (GRCm39) missense probably damaging 1.00
R2014:Fmo5 UTSW 3 97,542,998 (GRCm39) missense possibly damaging 0.56
R2093:Fmo5 UTSW 3 97,553,194 (GRCm39) missense probably benign 0.41
R3087:Fmo5 UTSW 3 97,549,011 (GRCm39) missense probably damaging 1.00
R3694:Fmo5 UTSW 3 97,553,230 (GRCm39) missense probably damaging 1.00
R3764:Fmo5 UTSW 3 97,553,033 (GRCm39) missense probably damaging 1.00
R4864:Fmo5 UTSW 3 97,553,195 (GRCm39) missense probably damaging 1.00
R4987:Fmo5 UTSW 3 97,542,894 (GRCm39) missense probably benign 0.23
R5152:Fmo5 UTSW 3 97,549,078 (GRCm39) missense probably benign 0.00
R5304:Fmo5 UTSW 3 97,558,938 (GRCm39) missense probably damaging 1.00
R5306:Fmo5 UTSW 3 97,549,076 (GRCm39) missense probably benign 0.00
R5563:Fmo5 UTSW 3 97,546,207 (GRCm39) missense probably damaging 1.00
R5888:Fmo5 UTSW 3 97,549,041 (GRCm39) missense probably benign 0.10
R6352:Fmo5 UTSW 3 97,552,991 (GRCm39) missense probably benign 0.16
R8346:Fmo5 UTSW 3 97,552,962 (GRCm39) missense probably damaging 1.00
R8547:Fmo5 UTSW 3 97,558,811 (GRCm39) missense probably benign 0.03
R9258:Fmo5 UTSW 3 97,558,802 (GRCm39) missense probably benign 0.07
R9322:Fmo5 UTSW 3 97,546,190 (GRCm39) nonsense probably null
R9611:Fmo5 UTSW 3 97,549,089 (GRCm39) missense possibly damaging 0.85
Posted On 2014-05-07