Incidental Mutation 'PIT4445001:Fmo5'
ID 555379
Institutional Source Beutler Lab
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 # PIT4445001 (G1)
Quality Score 223.009
Status Not validated
Chromosome 3
Chromosomal Location 97536120-97562598 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97558844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 435 (T435A)
Ref Sequence ENSEMBL: ENSMUSP00000029729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029729] [ENSMUST00000107049] [ENSMUST00000107050]
AlphaFold P97872
Predicted Effect probably benign
Transcript: ENSMUST00000029729
AA Change: T435A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029729
Gene: ENSMUSG00000028088
AA Change: T435A

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: T435A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102664
Gene: ENSMUSG00000028088
AA Change: T435A

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: T435A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102665
Gene: ENSMUSG00000028088
AA Change: T435A

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
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 70.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,966,377 (GRCm39) K419E probably damaging Het
Adam7 T A 14: 68,747,197 (GRCm39) K587N possibly damaging Het
Agl T C 3: 116,565,109 (GRCm39) M382V Het
Agpat3 A T 10: 78,109,927 (GRCm39) F341I possibly damaging Het
Ampd2 A T 3: 107,982,328 (GRCm39) L767Q probably damaging Het
Arhgap28 A T 17: 68,203,230 (GRCm39) D124E possibly damaging Het
Arhgap32 T C 9: 32,172,152 (GRCm39) L1644P probably damaging Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Asns T A 6: 7,689,277 (GRCm39) N75I probably damaging Het
Atp10a A G 7: 58,453,215 (GRCm39) D798G probably damaging Het
Atp8a1 A G 5: 67,780,003 (GRCm39) V1145A Het
Ccdc171 A G 4: 83,579,984 (GRCm39) Q577R probably damaging Het
Cd247 T A 1: 165,688,605 (GRCm39) D154E probably damaging Het
Ceacam1 A T 7: 25,175,881 (GRCm39) N104K probably damaging Het
Chfr A G 5: 110,299,543 (GRCm39) D312G possibly damaging Het
Ddb1 C A 19: 10,603,334 (GRCm39) L881I probably damaging Het
Dgkh A T 14: 78,813,382 (GRCm39) I1032N possibly damaging Het
Efcab6 A T 15: 83,788,468 (GRCm39) V942D probably benign Het
Fpr1 T C 17: 18,097,155 (GRCm39) Q278R probably benign Het
Fzr1 C T 10: 81,205,228 (GRCm39) W256* probably null Het
Gabrb1 T C 5: 72,266,125 (GRCm39) S261P probably damaging Het
Galr2 G T 11: 116,172,474 (GRCm39) A55S probably benign Het
Gbp2 A T 3: 142,343,227 (GRCm39) K581N probably benign Het
Gria1 A T 11: 57,076,664 (GRCm39) Y89F probably damaging Het
Ibsp T A 5: 104,450,170 (GRCm39) I26N possibly damaging Het
Igf1r T C 7: 67,857,211 (GRCm39) F1058L probably damaging Het
Ighv1-16 A C 12: 114,629,680 (GRCm39) C36G probably benign Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Ilkap T C 1: 91,313,067 (GRCm39) T143A probably benign Het
Kdm3b A T 18: 34,926,168 (GRCm39) K103* probably null Het
Mphosph9 A G 5: 124,436,853 (GRCm39) I497T possibly damaging Het
Mrgpra3 G A 7: 47,239,908 (GRCm39) T6I possibly damaging Het
Mrpl38 T C 11: 116,023,384 (GRCm39) probably null Het
Myo3a A T 2: 22,434,457 (GRCm39) E813V possibly damaging Het
Myo7b G T 18: 32,092,519 (GRCm39) Q2093K possibly damaging Het
Myo7b T C 18: 32,095,405 (GRCm39) K1851R probably damaging Het
P3h2 T A 16: 25,803,749 (GRCm39) D339V probably benign Het
Pcdhb6 C A 18: 37,468,300 (GRCm39) P407Q possibly damaging Het
Plch2 C A 4: 155,093,483 (GRCm39) R153L probably damaging Het
Plppr4 G A 3: 117,153,957 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,717,776 (GRCm39) F1046S probably damaging Het
Pramel41 T G 5: 94,596,366 (GRCm39) W468G probably benign Het
Prkacb A T 3: 146,461,446 (GRCm39) L107M probably benign Het
Ranbp17 A G 11: 33,431,020 (GRCm39) probably null Het
Rasl11b C A 5: 74,357,994 (GRCm39) P88Q probably damaging Het
Rcc2 A G 4: 140,448,460 (GRCm39) E503G possibly damaging Het
Rnf216 T A 5: 143,071,758 (GRCm39) K407N probably damaging Het
Rusf1 A G 7: 127,875,706 (GRCm39) V243A probably benign Het
Scrn3 G A 2: 73,148,673 (GRCm39) M81I possibly damaging Het
Scube2 T C 7: 109,408,387 (GRCm39) T687A probably benign Het
Serpinb10 T A 1: 107,463,728 (GRCm39) F3L probably benign Het
Sgcb C T 5: 73,797,155 (GRCm39) V202I probably damaging Het
Sgce A G 6: 4,689,654 (GRCm39) V429A possibly damaging Het
Sh3rf2 T C 18: 42,286,229 (GRCm39) V574A probably benign Het
Sncaip T C 18: 53,002,016 (GRCm39) L179S probably damaging Het
Sntg2 A T 12: 30,362,571 (GRCm39) D58E probably damaging Het
Taar3 T C 10: 23,825,586 (GRCm39) I44T possibly damaging Het
Tmem87b G A 2: 128,673,391 (GRCm39) V227I probably benign Het
Tnfsf9 T C 17: 57,412,517 (GRCm39) L29P possibly damaging Het
Tnip2 T C 5: 34,654,215 (GRCm39) H391R probably benign Het
Traf5 A G 1: 191,729,768 (GRCm39) Y125H Het
Ttc23 T G 7: 67,316,961 (GRCm39) I77M probably damaging Het
Ube2l3 T C 16: 16,978,036 (GRCm39) N43S probably benign Het
Vars2 A T 17: 35,977,103 (GRCm39) C142* probably null Het
Vmn2r15 A C 5: 109,435,008 (GRCm39) D565E probably damaging Het
Vmn2r56 C T 7: 12,449,153 (GRCm39) probably null Het
Vmn2r79 A T 7: 86,651,408 (GRCm39) D269V possibly damaging Het
Vmn2r85 A T 10: 130,261,572 (GRCm39) M255K probably benign Het
Wfdc6a T A 2: 164,421,746 (GRCm39) *137C probably null Het
Wipi2 T C 5: 142,652,639 (GRCm39) V417A probably benign Het
Xirp2 G T 2: 67,340,116 (GRCm39) V786L possibly damaging Het
Zdhhc13 G A 7: 48,445,697 (GRCm39) G26S probably benign Het
Zscan25 T A 5: 145,227,422 (GRCm39) V362D probably damaging Het
Other mutations in Fmo5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Fmo5 APN 3 97,558,884 (GRCm39) missense probably benign 0.19
IGL01926:Fmo5 APN 3 97,544,797 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCTGCATCTTAAGGTCCGTAAG -3'
(R):5'- GCTTCCGAACACGATCTTCC -3'

Sequencing Primer
(F):5'- AGGAAGGTGATAAATGTCCTAACTC -3'
(R):5'- ACGATCTTCCGTGGTGAGAATAG -3'
Posted On 2019-06-07