Incidental Mutation 'R3904:Fmo1'
ID 309085
Institutional Source Beutler Lab
Gene Symbol Fmo1
Ensembl Gene ENSMUSG00000040181
Gene Name flavin containing monooxygenase 1
Synonyms
MMRRC Submission 040812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R3904 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 162657130-162694179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 162661337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 315 (N315K)
Ref Sequence ENSEMBL: ENSMUSP00000037259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046049] [ENSMUST00000131058] [ENSMUST00000134098] [ENSMUST00000193078]
AlphaFold P50285
Predicted Effect possibly damaging
Transcript: ENSMUST00000046049
AA Change: N315K

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037259
Gene: ENSMUSG00000040181
AA Change: N315K

DomainStartEndE-ValueType
Pfam:FMO-like 2 532 1.5e-279 PFAM
Pfam:Pyr_redox_2 3 228 3.8e-13 PFAM
Pfam:NAD_binding_8 7 63 8e-7 PFAM
Pfam:K_oxygenase 73 226 3.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131058
SMART Domains Protein: ENSMUSP00000118534
Gene: ENSMUSG00000040181

DomainStartEndE-ValueType
Pfam:FMO-like 2 209 9.3e-122 PFAM
Pfam:Pyr_redox_2 4 208 8.2e-9 PFAM
Pfam:Pyr_redox_3 6 209 7.5e-16 PFAM
Pfam:NAD_binding_8 7 65 5.2e-8 PFAM
Pfam:K_oxygenase 72 209 1.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134098
SMART Domains Protein: ENSMUSP00000117398
Gene: ENSMUSG00000040181

DomainStartEndE-ValueType
Pfam:FMO-like 2 303 1.4e-168 PFAM
Pfam:Pyr_redox_2 4 280 8e-9 PFAM
Pfam:Pyr_redox_3 6 220 5.5e-16 PFAM
Pfam:NAD_binding_8 7 65 9.5e-8 PFAM
Pfam:K_oxygenase 72 224 2.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143902
Predicted Effect probably benign
Transcript: ENSMUST00000193078
SMART Domains Protein: ENSMUSP00000141210
Gene: ENSMUSG00000040181

DomainStartEndE-ValueType
Pfam:FMO-like 2 230 9.4e-132 PFAM
Pfam:Pyr_redox_2 4 223 4.9e-7 PFAM
Pfam:Pyr_redox_3 6 220 3.1e-14 PFAM
Pfam:NAD_binding_8 7 65 6.9e-6 PFAM
Pfam:K_oxygenase 72 222 3.8e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193766
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (39/39)
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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,772,400 (GRCm39) I530L probably benign Het
5930422O12Rik T C 8: 33,919,467 (GRCm39) S96P probably damaging Het
Acot4 A G 12: 84,090,101 (GRCm39) probably null Het
Alms1 A G 6: 85,598,660 (GRCm39) D1631G probably benign Het
Amd1 C T 10: 40,166,453 (GRCm39) R210H probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Anapc1 A G 2: 128,484,439 (GRCm39) F1175S probably damaging Het
Ano4 A G 10: 88,860,867 (GRCm39) F337S probably damaging Het
Bub1 A C 2: 127,663,862 (GRCm39) I207S probably benign Het
Cfap53 T A 18: 74,440,445 (GRCm39) L405M probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a1 C T 10: 76,547,175 (GRCm39) R730H unknown Het
Esp3 A T 17: 40,946,820 (GRCm39) T48S possibly damaging Het
Fsip2l T C X: 47,930,421 (GRCm39) N649S possibly damaging Het
Impg1 A G 9: 80,252,867 (GRCm39) S438P possibly damaging Het
Jsrp1 T A 10: 80,648,246 (GRCm39) M1L probably benign Het
Klra14-ps T A 6: 130,129,512 (GRCm39) noncoding transcript Het
Mrm3 A G 11: 76,135,112 (GRCm39) M108V probably benign Het
Mtf2 T A 5: 108,228,866 (GRCm39) F61I probably damaging Het
Nat10 A T 2: 103,556,592 (GRCm39) probably benign Het
Or2y10 T C 11: 49,455,585 (GRCm39) I279T possibly damaging Het
Or7c70 T G 10: 78,683,132 (GRCm39) I206L probably benign Het
Pcgf5 T C 19: 36,417,495 (GRCm39) I140T probably damaging Het
Pfpl T C 19: 12,407,801 (GRCm39) L684P probably benign Het
Psmd10 T C X: 139,850,052 (GRCm39) *152W probably null Het
Ptpn23 A C 9: 110,218,313 (GRCm39) M600R probably benign Het
Pxmp4 C T 2: 154,429,969 (GRCm39) R140H probably damaging Het
Rnf112 T C 11: 61,341,211 (GRCm39) E410G probably damaging Het
Samd9l T A 6: 3,376,830 (GRCm39) K144* probably null Het
Shld2 A G 14: 33,981,666 (GRCm39) W491R probably damaging Het
Slc46a3 C T 5: 147,823,264 (GRCm39) E193K probably benign Het
Snap23 A C 2: 120,429,815 (GRCm39) D209A possibly damaging Het
Tg C T 15: 66,638,011 (GRCm39) Q656* probably null Het
Tshz2 A G 2: 169,726,307 (GRCm39) Y301C probably damaging Het
Ttn T A 2: 76,670,638 (GRCm39) probably benign Het
Unc80 C T 1: 66,678,455 (GRCm39) Q2011* probably null Het
Vwa3a A G 7: 120,358,099 (GRCm39) T57A probably benign Het
Zfp518a C T 19: 40,903,364 (GRCm39) Q1098* probably null Het
Other mutations in Fmo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Fmo1 APN 1 162,663,815 (GRCm39) missense probably damaging 1.00
IGL00479:Fmo1 APN 1 162,657,632 (GRCm39) missense probably benign 0.00
IGL01612:Fmo1 APN 1 162,661,168 (GRCm39) missense probably benign 0.42
IGL01650:Fmo1 APN 1 162,661,153 (GRCm39) missense probably benign 0.04
IGL02052:Fmo1 APN 1 162,677,629 (GRCm39) critical splice donor site probably null
IGL02340:Fmo1 APN 1 162,660,559 (GRCm39) missense probably benign 0.02
IGL03348:Fmo1 APN 1 162,677,720 (GRCm39) missense possibly damaging 0.76
IGL03388:Fmo1 APN 1 162,663,716 (GRCm39) missense probably benign 0.17
PIT1430001:Fmo1 UTSW 1 162,657,622 (GRCm39) missense probably benign 0.00
R0279:Fmo1 UTSW 1 162,657,841 (GRCm39) missense possibly damaging 0.92
R0314:Fmo1 UTSW 1 162,687,031 (GRCm39) missense probably damaging 1.00
R0348:Fmo1 UTSW 1 162,663,704 (GRCm39) missense probably benign 0.00
R0385:Fmo1 UTSW 1 162,663,773 (GRCm39) missense possibly damaging 0.94
R0699:Fmo1 UTSW 1 162,661,341 (GRCm39) missense probably benign 0.00
R1413:Fmo1 UTSW 1 162,661,431 (GRCm39) missense probably damaging 0.98
R1424:Fmo1 UTSW 1 162,657,635 (GRCm39) missense probably damaging 1.00
R1430:Fmo1 UTSW 1 162,667,293 (GRCm39) missense probably damaging 1.00
R1851:Fmo1 UTSW 1 162,657,554 (GRCm39) nonsense probably null
R1929:Fmo1 UTSW 1 162,661,424 (GRCm39) missense probably damaging 1.00
R1982:Fmo1 UTSW 1 162,667,325 (GRCm39) missense possibly damaging 0.83
R2272:Fmo1 UTSW 1 162,661,424 (GRCm39) missense probably damaging 1.00
R2568:Fmo1 UTSW 1 162,663,828 (GRCm39) missense probably benign 0.00
R3787:Fmo1 UTSW 1 162,657,583 (GRCm39) missense possibly damaging 0.54
R3825:Fmo1 UTSW 1 162,678,916 (GRCm39) splice site probably benign
R4320:Fmo1 UTSW 1 162,661,200 (GRCm39) missense probably damaging 1.00
R4367:Fmo1 UTSW 1 162,661,217 (GRCm39) nonsense probably null
R4431:Fmo1 UTSW 1 162,661,281 (GRCm39) missense possibly damaging 0.76
R4473:Fmo1 UTSW 1 162,677,732 (GRCm39) missense possibly damaging 0.90
R5340:Fmo1 UTSW 1 162,657,551 (GRCm39) missense probably benign 0.39
R5354:Fmo1 UTSW 1 162,657,714 (GRCm39) missense probably benign 0.01
R5479:Fmo1 UTSW 1 162,677,793 (GRCm39) missense probably damaging 0.99
R5930:Fmo1 UTSW 1 162,667,185 (GRCm39) critical splice donor site probably null
R6148:Fmo1 UTSW 1 162,679,088 (GRCm39) missense probably damaging 0.99
R6160:Fmo1 UTSW 1 162,663,867 (GRCm39) missense probably benign 0.00
R6164:Fmo1 UTSW 1 162,678,979 (GRCm39) missense probably benign 0.24
R6263:Fmo1 UTSW 1 162,677,629 (GRCm39) critical splice donor site probably null
R7046:Fmo1 UTSW 1 162,667,263 (GRCm39) missense possibly damaging 0.92
R7590:Fmo1 UTSW 1 162,687,251 (GRCm39) intron probably benign
R7663:Fmo1 UTSW 1 162,663,866 (GRCm39) missense possibly damaging 0.74
R7692:Fmo1 UTSW 1 162,661,402 (GRCm39) missense probably benign 0.16
R7712:Fmo1 UTSW 1 162,663,704 (GRCm39) missense probably benign 0.00
R8207:Fmo1 UTSW 1 162,677,676 (GRCm39) missense probably benign 0.28
R8895:Fmo1 UTSW 1 162,657,827 (GRCm39) missense probably benign 0.01
R8917:Fmo1 UTSW 1 162,663,773 (GRCm39) missense probably benign 0.03
R9583:Fmo1 UTSW 1 162,686,996 (GRCm39) missense
R9620:Fmo1 UTSW 1 162,661,390 (GRCm39) missense probably benign
X0022:Fmo1 UTSW 1 162,657,569 (GRCm39) missense possibly damaging 0.57
X0066:Fmo1 UTSW 1 162,667,273 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AACCCATCGAGCTTGTGTCTC -3'
(R):5'- AAGGGGATTACTGGCTCCAATG -3'

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