Incidental Mutation 'R7046:Fmo1'
ID 547289
Institutional Source Beutler Lab
Gene Symbol Fmo1
Ensembl Gene ENSMUSG00000040181
Gene Name flavin containing monooxygenase 1
Synonyms
MMRRC Submission 045144-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R7046 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 162657130-162694179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 162667263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 184 (D184V)
Ref Sequence ENSEMBL: ENSMUSP00000141210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046049] [ENSMUST00000111518] [ENSMUST00000131058] [ENSMUST00000134098] [ENSMUST00000193078]
AlphaFold P50285
Predicted Effect possibly damaging
Transcript: ENSMUST00000046049
AA Change: D184V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037259
Gene: ENSMUSG00000040181
AA Change: D184V

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: ENSMUST00000111518
SMART Domains Protein: ENSMUSP00000107143
Gene: ENSMUSG00000040181

DomainStartEndE-ValueType
Pfam:FMO-like 2 170 4.6e-93 PFAM
Pfam:Pyr_redox_3 6 173 2.7e-8 PFAM
Pfam:NAD_binding_8 7 65 5.5e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131058
AA Change: D184V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118534
Gene: ENSMUSG00000040181
AA Change: D184V

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 possibly damaging
Transcript: ENSMUST00000134098
AA Change: D184V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117398
Gene: ENSMUSG00000040181
AA Change: D184V

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 possibly damaging
Transcript: ENSMUST00000193078
AA Change: D184V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141210
Gene: ENSMUSG00000040181
AA Change: D184V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,772,364 (GRCm39) Y805C probably damaging Het
Aoc1l3 T A 6: 48,964,512 (GRCm39) D173E probably benign Het
Cabp7 T A 11: 4,688,886 (GRCm39) I195F probably damaging Het
Camsap1 T C 2: 25,835,201 (GRCm39) N317S probably damaging Het
Ccdc127 T G 13: 74,500,994 (GRCm39) L4V probably damaging Het
Ccdc7a T C 8: 129,774,100 (GRCm39) E145G probably damaging Het
Cdh10 T A 15: 19,013,287 (GRCm39) V629D probably damaging Het
Cdh23 A C 10: 60,214,530 (GRCm39) L1497R probably damaging Het
Chsy3 A G 18: 59,542,875 (GRCm39) K671R probably benign Het
Clca4b T C 3: 144,621,367 (GRCm39) Y569C probably damaging Het
Cnga1 T C 5: 72,786,696 (GRCm39) probably benign Het
Cyp51 T A 5: 4,150,188 (GRCm39) E178D probably damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnah14 G T 1: 181,450,568 (GRCm39) C727F probably benign Het
Egf A T 3: 129,548,607 (GRCm39) W3R unknown Het
Egfem1 G A 3: 29,136,364 (GRCm39) probably null Het
Epb41l1 G T 2: 156,368,812 (GRCm39) V682L possibly damaging Het
Etv1 A G 12: 38,834,369 (GRCm39) probably null Het
Faap100 A G 11: 120,268,200 (GRCm39) F191S possibly damaging Het
Ghrl A G 6: 113,696,344 (GRCm39) L16P probably damaging Het
Gria4 T A 9: 4,420,278 (GRCm39) L861F probably damaging Het
Gsr T A 8: 34,185,090 (GRCm39) M428K probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Kbtbd12 A G 6: 88,595,497 (GRCm39) M111T possibly damaging Het
Krtap21-1 G T 16: 89,200,623 (GRCm39) Y6* probably null Het
Lin9 A G 1: 180,494,935 (GRCm39) D219G probably damaging Het
Lrrc38 A G 4: 143,076,739 (GRCm39) M1V probably null Het
Macc1 T G 12: 119,410,773 (GRCm39) F514V probably benign Het
Madcam1 C T 10: 79,504,139 (GRCm39) R242C probably benign Het
Mfhas1 T C 8: 36,131,944 (GRCm39) S1037P probably benign Het
Micall2 C T 5: 139,694,699 (GRCm39) probably benign Het
Mtr C A 13: 12,205,095 (GRCm39) A1122S possibly damaging Het
Muc6 T A 7: 141,226,456 (GRCm39) probably benign Het
Myh15 T A 16: 48,929,662 (GRCm39) C529* probably null Het
Napsa T C 7: 44,234,509 (GRCm39) V247A probably damaging Het
Nr2c2 A G 6: 92,135,338 (GRCm39) T309A probably damaging Het
Or1e26 A T 11: 73,480,558 (GRCm39) I2K probably benign Het
Or1q1 T A 2: 36,887,173 (GRCm39) V117E probably benign Het
Or2n1b A T 17: 38,459,691 (GRCm39) M71L probably benign Het
Osgepl1 A T 1: 53,360,710 (GRCm39) I384F possibly damaging Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pds5b A G 5: 150,673,385 (GRCm39) Y481C probably damaging Het
Pdzrn4 T A 15: 92,668,303 (GRCm39) Y818* probably null Het
Pin1rt1 T C 2: 104,544,767 (GRCm39) S122G probably benign Het
Pkdcc A T 17: 83,531,687 (GRCm39) Y487F probably damaging Het
Plxna4 C T 6: 32,493,440 (GRCm39) C392Y probably damaging Het
Psd4 T G 2: 24,284,985 (GRCm39) M283R probably benign Het
Ralgds G T 2: 28,430,741 (GRCm39) G68W probably damaging Het
Rmdn2 T A 17: 79,928,808 (GRCm39) I20N probably damaging Het
Sestd1 A G 2: 77,022,910 (GRCm39) V486A probably benign Het
Skic8 T A 9: 54,626,539 (GRCm39) D275V probably damaging Het
Spmap2 G T 10: 79,422,796 (GRCm39) D35E probably benign Het
Tango6 A G 8: 107,533,748 (GRCm39) H958R possibly damaging Het
Taok3 C T 5: 117,411,771 (GRCm39) R857C probably damaging Het
Tasor A T 14: 27,194,392 (GRCm39) L1197F probably damaging Het
Trio T C 15: 27,832,137 (GRCm39) E1245G probably damaging Het
Usp19 C T 9: 108,374,334 (GRCm39) H763Y possibly damaging Het
Vmn1r185 A G 7: 26,310,651 (GRCm39) S285P probably damaging Het
Vmn1r45 T G 6: 89,910,538 (GRCm39) Y144S probably benign Het
Vwa3b G A 1: 37,212,959 (GRCm39) E152K probably benign Het
Xrcc5 G A 1: 72,433,875 (GRCm39) M731I probably benign Het
Zfp619 G A 7: 39,186,787 (GRCm39) S939N possibly damaging Het
Zfp874a C A 13: 67,590,418 (GRCm39) C422F probably damaging Het
Zfp948 A G 17: 21,808,719 (GRCm39) D637G possibly damaging 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
R3904:Fmo1 UTSW 1 162,661,337 (GRCm39) missense possibly damaging 0.54
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
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'- TGTTTTCTGCCGGGCATATTTAATC -3'
(R):5'- TTCTCAAACTAGAGCATCCTGG -3'

Sequencing Primer
(F):5'- CTGCCGGGCATATTTAATCTTTTAAC -3'
(R):5'- ATATTTATGCTCCACCCACT -3'
Posted On 2019-05-13