Incidental Mutation 'IGL01469:Fmo5'
ID88202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmo5
Ensembl Gene ENSMUSG00000028088
Gene Nameflavin containing monooxygenase 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #IGL01469
Quality Score
Status
Chromosome3
Chromosomal Location97628804-97655282 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97651568 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 448 (N448S)
Ref Sequence ENSEMBL: ENSMUSP00000102665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029729] [ENSMUST00000107049] [ENSMUST00000107050]
Predicted Effect probably benign
Transcript: ENSMUST00000029729
AA Change: N448S

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029729
Gene: ENSMUSG00000028088
AA Change: N448S

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 benign
Transcript: ENSMUST00000107049
AA Change: N448S

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102664
Gene: ENSMUSG00000028088
AA Change: N448S

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 benign
Transcript: ENSMUST00000107050
AA Change: N448S

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102665
Gene: ENSMUSG00000028088
AA Change: N448S

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A G 4: 144,528,622 Q204R possibly damaging Het
Actn2 C T 13: 12,310,910 E60K possibly damaging Het
Alpk1 T C 3: 127,677,752 probably null Het
Ccdc107 A G 4: 43,495,751 N218S probably benign Het
Cdh23 A T 10: 60,597,725 M60K probably benign Het
Cenpe A G 3: 135,228,806 Q378R probably damaging Het
Dnah8 T A 17: 30,683,714 probably benign Het
Eif2b4 T C 5: 31,187,767 D190G probably benign Het
Gal3st2c A G 1: 94,009,317 N328S probably benign Het
Gbf1 A T 19: 46,279,364 E1271V probably damaging Het
Ifitm6 A T 7: 141,016,812 V16D probably damaging Het
Ighv2-4 A G 12: 113,653,346 probably null Het
Kng2 T A 16: 22,999,827 K305I probably damaging Het
Lrp1 C T 10: 127,584,414 R900Q probably damaging Het
Maml1 A G 11: 50,266,526 M274T probably damaging Het
Med23 A G 10: 24,882,597 E278G probably damaging Het
Myo1h A G 5: 114,361,269 T164A probably damaging Het
Ncoa2 A T 1: 13,186,869 S135R probably benign Het
Nrbf2 A G 10: 67,270,140 L41P probably damaging Het
Olfr108 T A 17: 37,445,535 S5T probably benign Het
Olfr341 T C 2: 36,479,824 Y102C probably benign Het
Olfr514 A G 7: 108,825,327 V224A probably benign Het
Olfr678 T A 7: 105,070,388 M307K probably benign Het
Olfr782 A G 10: 129,350,580 M6V probably benign Het
Otoa T C 7: 121,155,273 probably null Het
Pih1d3 A T 1: 31,223,429 D164V probably damaging Het
Plxnb1 T C 9: 109,105,415 probably benign Het
Ppp1r42 A T 1: 10,003,233 probably null Het
Rad54l2 T A 9: 106,722,758 K100M probably damaging Het
Rnf112 T A 11: 61,451,341 T308S possibly damaging Het
Scaper T C 9: 55,859,767 D466G probably damaging Het
Sgsm2 T A 11: 74,853,871 I796L possibly damaging Het
Shank3 T C 15: 89,521,274 L476P probably damaging Het
Shkbp1 T C 7: 27,355,941 T6A probably benign Het
Slc14a2 A T 18: 78,155,566 I783N probably damaging Het
Stat1 A G 1: 52,147,370 D447G possibly damaging Het
Tekt3 T G 11: 63,073,468 I208S probably damaging Het
Tenm3 A T 8: 48,236,423 V2043E probably damaging Het
Tgm3 T C 2: 130,024,494 Y111H probably damaging Het
Tph2 T A 10: 115,079,759 R459* probably null Het
Vmn2r109 T C 17: 20,541,409 Y562C probably damaging Het
Other mutations in Fmo5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01926:Fmo5 APN 3 97637481 missense probably damaging 1.00
IGL03062:Fmo5 APN 3 97635593 missense probably damaging 1.00
IGL03215:Fmo5 APN 3 97641806 missense probably benign
IGL03323:Fmo5 APN 3 97639007 splice site probably null
PIT4445001:Fmo5 UTSW 3 97651528 missense probably benign 0.30
R0133:Fmo5 UTSW 3 97645636 missense probably damaging 0.99
R0207:Fmo5 UTSW 3 97645681 missense probably damaging 1.00
R0570:Fmo5 UTSW 3 97629140 missense probably damaging 1.00
R2014:Fmo5 UTSW 3 97635682 missense possibly damaging 0.56
R2093:Fmo5 UTSW 3 97645878 missense probably benign 0.41
R3087:Fmo5 UTSW 3 97641695 missense probably damaging 1.00
R3694:Fmo5 UTSW 3 97645914 missense probably damaging 1.00
R3764:Fmo5 UTSW 3 97645717 missense probably damaging 1.00
R4864:Fmo5 UTSW 3 97645879 missense probably damaging 1.00
R4987:Fmo5 UTSW 3 97635578 missense probably benign 0.23
R5152:Fmo5 UTSW 3 97641762 missense probably benign 0.00
R5304:Fmo5 UTSW 3 97651622 missense probably damaging 1.00
R5306:Fmo5 UTSW 3 97641760 missense probably benign 0.00
R5563:Fmo5 UTSW 3 97638891 missense probably damaging 1.00
R5888:Fmo5 UTSW 3 97641725 missense probably benign 0.10
R6352:Fmo5 UTSW 3 97645675 missense probably benign 0.16
R8346:Fmo5 UTSW 3 97645646 missense probably damaging 1.00
Posted On2013-11-18