Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03062:Fmo5'

409506

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmo5

Ensembl Gene

ENSMUSG00000028088

Gene Name

flavin containing monooxygenase 5

Synonyms

5033418D19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL03062

Quality Score

Status

Chromosome

Chromosomal Location

97536120-97562598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97542909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 73 (Y73C)

Ref Sequence

ENSEMBL: ENSMUSP00000102665 (fasta)

Gene Model

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

AlphaFold

P97872

Predicted Effect

probably damaging
Transcript: ENSMUST00000029729
AA Change: Y73C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029729
Gene: ENSMUSG00000028088
AA Change: Y73C

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 damaging
Transcript: ENSMUST00000107049
AA Change: Y73C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102664
Gene: ENSMUSG00000028088
AA Change: Y73C

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 damaging
Transcript: ENSMUST00000107050
AA Change: Y73C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102665
Gene: ENSMUSG00000028088
AA Change: Y73C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140283

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,681,054 (GRCm39)	R714Q	possibly damaging	Het
Abcb5	T	A	12: 118,899,822 (GRCm39)	I282L	probably benign	Het
Aox1	A	T	1: 58,117,624 (GRCm39)	E835D	probably benign	Het
Arhgap17	C	T	7: 122,921,097 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,092,666 (GRCm39)		probably benign	Het
Calcr	C	T	6: 3,693,718 (GRCm39)	V359I	probably benign	Het
Chd9	T	A	8: 91,741,895 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,017,029 (GRCm39)		probably benign	Het
Dnajc11	A	G	4: 152,055,318 (GRCm39)	E171G	possibly damaging	Het
Efhd1	T	C	1: 87,192,406 (GRCm39)	F79L	possibly damaging	Het
Fam83a	A	T	15: 57,856,473 (GRCm39)		probably null	Het
Fam98a	A	G	17: 75,847,100 (GRCm39)		probably benign	Het
Ficd	A	G	5: 113,876,314 (GRCm39)	Y163C	probably damaging	Het
Filip1l	T	C	16: 57,327,167 (GRCm39)	S66P	probably damaging	Het
Galnt12	C	A	4: 47,122,566 (GRCm39)	R574S	possibly damaging	Het
Klc3	C	A	7: 19,128,987 (GRCm39)	G461W	probably damaging	Het
Lmo7	A	T	14: 102,149,515 (GRCm39)	T973S	possibly damaging	Het
Loxl1	C	A	9: 58,219,193 (GRCm39)	G326V	possibly damaging	Het
Lrrc24	A	G	15: 76,602,504 (GRCm39)	V127A	probably benign	Het
Lyrm1	T	C	7: 119,515,354 (GRCm39)		probably benign	Het
Med28	G	A	5: 45,679,811 (GRCm39)	V65I	probably damaging	Het
Mgat4c	T	C	10: 102,224,322 (GRCm39)	Y179H	probably damaging	Het
Micall1	A	C	15: 78,998,881 (GRCm39)	N58T	probably damaging	Het
Mtcl3	T	A	10: 29,074,945 (GRCm39)	F911Y	probably damaging	Het
Ncoa4	T	A	14: 31,895,377 (GRCm39)	M72K	possibly damaging	Het
Nutm1	T	C	2: 112,079,278 (GRCm39)	Q879R	probably benign	Het
Or4d6	C	T	19: 12,086,512 (GRCm39)	V133I	probably benign	Het
Or8b12i	T	A	9: 20,082,463 (GRCm39)	I135F	probably damaging	Het
Or8g52	T	A	9: 39,631,331 (GRCm39)	D269E	probably benign	Het
Phf11b	T	C	14: 59,562,373 (GRCm39)	I177M	probably damaging	Het
Pin1rt1	T	G	2: 104,545,052 (GRCm39)	I27L	probably benign	Het
Plxna2	T	C	1: 194,444,858 (GRCm39)	V750A	possibly damaging	Het
Pou5f1	A	T	17: 35,820,936 (GRCm39)	N126I	possibly damaging	Het
Ptprn	A	T	1: 75,224,517 (GRCm39)	H946Q	possibly damaging	Het
Rnf43	G	T	11: 87,623,130 (GRCm39)	G744*	probably null	Het
Rsbn1	C	A	3: 103,860,945 (GRCm39)		probably benign	Het
Sars2	T	A	7: 28,446,206 (GRCm39)	I145N	possibly damaging	Het
Sh3tc2	A	T	18: 62,144,951 (GRCm39)	E1135V	probably damaging	Het
Shroom1	A	G	11: 53,354,206 (GRCm39)	D42G	probably benign	Het
Sidt2	A	G	9: 45,853,981 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,592,558 (GRCm39)		probably benign	Het
Slc9c1	T	C	16: 45,420,121 (GRCm39)	S1059P	probably benign	Het
Socs6	A	T	18: 88,887,970 (GRCm39)	M315K	probably benign	Het
Speer2	T	C	16: 69,654,865 (GRCm39)	E200G	probably damaging	Het
Sult2a5	T	A	7: 13,358,107 (GRCm39)		probably null	Het
Tmbim1	A	T	1: 74,330,858 (GRCm39)	I168N	possibly damaging	Het
Trim38	T	C	13: 23,966,946 (GRCm39)	V131A	probably damaging	Het
Ube2o	A	G	11: 116,432,468 (GRCm39)	S833P	probably damaging	Het
Uggt2	T	C	14: 119,312,758 (GRCm39)	I350M	probably damaging	Het
Unc80	A	G	1: 66,548,648 (GRCm39)	D640G	probably damaging	Het
Vmn2r13	A	G	5: 109,304,148 (GRCm39)	F761S	probably damaging	Het
Vmn2r54	C	T	7: 12,366,355 (GRCm39)	C193Y	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
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
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

Posted On

2016-08-02