Mutagenetix > Incidental Mutation

Incidental Mutation 'R8547:Fmo5'

659673

Institutional Source

Beutler Lab

Gene Symbol

Fmo5

Ensembl Gene

ENSMUSG00000028088

Gene Name

flavin containing monooxygenase 5

Synonyms

5033418D19Rik

MMRRC Submission

068512-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R8547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97536120-97562598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 97558811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 424 (Q424K)

Ref Sequence

ENSEMBL: ENSMUSP00000102665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029729] [ENSMUST00000107049] [ENSMUST00000107050]

AlphaFold

P97872

Predicted Effect

probably benign
Transcript: ENSMUST00000029729
AA Change: Q424K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029729
Gene: ENSMUSG00000028088
AA Change: Q424K

Domain	Start	End	E-Value	Type
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: Q424K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102664
Gene: ENSMUSG00000028088
AA Change: Q424K

Domain	Start	End	E-Value	Type
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: Q424K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102665
Gene: ENSMUSG00000028088
AA Change: Q424K

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,616,474 (GRCm39)	V972A	probably benign	Het
Adamts14	T	G	10: 61,106,998 (GRCm39)	T41P	probably damaging	Het
Adamtsl3	C	T	7: 82,077,621 (GRCm39)	T102I	probably damaging	Het
Ago3	T	C	4: 126,264,109 (GRCm39)	I366V	probably null	Het
Aldh1a7	A	G	19: 20,692,067 (GRCm39)	V242A	possibly damaging	Het
Asxl3	T	C	18: 22,655,829 (GRCm39)	S1280P	probably benign	Het
Caprin1	G	T	2: 103,599,862 (GRCm39)	N604K	probably damaging	Het
Catsperb	T	C	12: 101,412,305 (GRCm39)	W131R	probably damaging	Het
Ccdc18	A	G	5: 108,345,725 (GRCm39)	E957G	probably damaging	Het
Ccn6	T	A	10: 39,027,194 (GRCm39)	D346V	probably damaging	Het
Cd28	G	A	1: 60,785,681 (GRCm39)	V17I	probably benign	Het
Cfl2	A	T	12: 54,908,398 (GRCm39)	L75*	probably null	Het
Clspn	T	A	4: 126,455,609 (GRCm39)	L45H	probably damaging	Het
Col4a2	A	G	8: 11,479,305 (GRCm39)		probably null	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Dgka	A	T	10: 128,556,881 (GRCm39)	I663N	probably damaging	Het
Eppk1	C	T	15: 75,993,249 (GRCm39)	V1211I	probably benign	Het
Fam193b	A	G	13: 55,698,117 (GRCm39)	S280P	probably damaging	Het
Fgd2	C	T	17: 29,583,934 (GRCm39)	A116V	probably damaging	Het
Fn3k	T	C	11: 121,340,987 (GRCm39)	L214P	probably damaging	Het
Gm3404	A	T	5: 146,465,108 (GRCm39)	R283W	possibly damaging	Het
Gtdc1	A	G	2: 44,678,993 (GRCm39)		probably benign	Het
Hepacam	T	C	9: 37,279,049 (GRCm39)	I26T	probably benign	Het
Hltf	T	C	3: 20,152,291 (GRCm39)	F596L	probably damaging	Het
Ipo7	T	G	7: 109,652,000 (GRCm39)	D926E	probably benign	Het
Krt16	G	A	11: 100,137,083 (GRCm39)	Q463*	probably null	Het
Lats1	T	C	10: 7,588,613 (GRCm39)	F1077L	probably damaging	Het
Lrrc69	T	C	4: 14,704,014 (GRCm39)	I269V	probably benign	Het
Mcm6	C	T	1: 128,273,685 (GRCm39)	E382K	possibly damaging	Het
Npbwr1	A	T	1: 5,987,446 (GRCm39)	C23S	possibly damaging	Het
Nsd3	T	C	8: 26,184,811 (GRCm39)	C962R	probably damaging	Het
Nufip2	T	C	11: 77,583,391 (GRCm39)	L435P	probably damaging	Het
Or10d4c	C	T	9: 39,558,798 (GRCm39)	Q259*	probably null	Het
Or1e23	T	C	11: 73,407,440 (GRCm39)	N195S	probably damaging	Het
Potegl	A	T	2: 23,120,135 (GRCm39)	Y177F	probably damaging	Het
Psen1	T	C	12: 83,761,630 (GRCm39)	V144A	possibly damaging	Het
Psmg2	T	A	18: 67,779,077 (GRCm39)	S82T	possibly damaging	Het
Ptcd2	A	C	13: 99,469,462 (GRCm39)	F154V	probably damaging	Het
Ptchd4	A	C	17: 42,813,512 (GRCm39)	D471A	probably benign	Het
Robo4	C	T	9: 37,315,674 (GRCm39)	T309I	possibly damaging	Het
Runx3	T	C	4: 134,898,455 (GRCm39)	F209L	probably damaging	Het
Setd1a	T	C	7: 127,395,676 (GRCm39)		probably benign	Het
Slc35g3	T	C	11: 69,652,446 (GRCm39)	E22G	probably benign	Het
Spag9	T	A	11: 94,013,647 (GRCm39)	M1303K	possibly damaging	Het
Ssh2	T	A	11: 77,340,533 (GRCm39)	S562T	probably benign	Het
Tiparp	T	C	3: 65,453,798 (GRCm39)		probably null	Het
Topbp1	C	T	9: 103,213,264 (GRCm39)	P1028L	probably benign	Het
Unc45a	A	T	7: 79,975,840 (GRCm39)	L833Q	possibly damaging	Het
Vmn2r85	T	C	10: 130,261,311 (GRCm39)	Y342C	probably damaging	Het
Vmn2r95	G	A	17: 18,664,161 (GRCm39)	C460Y	probably damaging	Het
Vps13c	T	A	9: 67,852,848 (GRCm39)	I2376N	probably damaging	Het
Zbtb21	C	A	16: 97,753,315 (GRCm39)	A351S	possibly damaging	Het
Zzef1	T	G	11: 72,735,267 (GRCm39)	Y623D	probably damaging	Het

Other mutations in Fmo5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGCTGCATCTTAAGGTCCGTAAG -3'
(R):5'- AGGCTTCCGAACACGATCTTC -3'

Sequencing Primer
(F):5'- AGGAAGGTGATAAATGTCCTAACTC -3'
(R):5'- AGAATAGTTTTCCGGGCTCCAGC -3'

Posted On

2021-01-18