Mutagenetix > Incidental Mutation

Incidental Mutation 'R5152:Fmo5'

395425

Institutional Source

Beutler Lab

Gene Symbol

Fmo5

Ensembl Gene

ENSMUSG00000028088

Gene Name

flavin containing monooxygenase 5

Synonyms

5033418D19Rik

MMRRC Submission

042734-MU

Accession Numbers

Essential gene?

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

Stock #

R5152 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97536120-97562598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97549078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 242 (Y242C)

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: Y242C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029729
Gene: ENSMUSG00000028088
AA Change: Y242C

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: Y242C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102664
Gene: ENSMUSG00000028088
AA Change: Y242C

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: Y242C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102665
Gene: ENSMUSG00000028088
AA Change: Y242C

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

99% (83/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,846 (GRCm39)	S1503P	probably benign	Het
Actn3	C	A	19: 4,913,572 (GRCm39)	V620F	probably damaging	Het
Adamtsl3	A	G	7: 82,223,752 (GRCm39)	K252E	probably benign	Het
Adgrg1	A	G	8: 95,736,373 (GRCm39)	Y509C	probably damaging	Het
Arhgef2	G	A	3: 88,536,875 (GRCm39)		probably null	Het
Bod1l	T	C	5: 41,973,886 (GRCm39)	E2476G	probably benign	Het
Capn3	T	C	2: 120,331,811 (GRCm39)		probably benign	Het
Catsperz	T	C	19: 6,900,705 (GRCm39)	T147A	probably benign	Het
Cc2d1b	C	A	4: 108,483,283 (GRCm39)	A289E	probably benign	Het
Ccdc170	A	C	10: 4,511,107 (GRCm39)	H722P	probably damaging	Het
Cdk13	C	A	13: 17,893,110 (GRCm39)	A1358S	probably benign	Het
Cntn6	T	A	6: 104,546,074 (GRCm39)		probably benign	Het
Coch	A	G	12: 51,642,225 (GRCm39)	N66D	probably benign	Het
Col12a1	A	G	9: 79,564,030 (GRCm39)	S1732P	probably damaging	Het
Copa	T	A	1: 171,945,628 (GRCm39)	V917E	probably benign	Het
Csmd2	C	A	4: 128,445,828 (GRCm39)	N3299K	probably benign	Het
Cyp2c67	A	T	19: 39,627,132 (GRCm39)	F233I	probably benign	Het
D630039A03Rik	T	A	4: 57,910,434 (GRCm39)	H126L	probably damaging	Het
Ddx46	T	C	13: 55,806,843 (GRCm39)	L492P	probably damaging	Het
Dpysl3	C	T	18: 43,571,145 (GRCm39)	G43D	probably benign	Het
Enpp5	C	T	17: 44,392,024 (GRCm39)	P151L	probably damaging	Het
Exoc3l4	T	C	12: 111,397,327 (GRCm39)		probably benign	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Flg2	C	A	3: 93,122,284 (GRCm39)	P1485T	unknown	Het
Fsip2	C	A	2: 82,808,916 (GRCm39)	T1745N	probably benign	Het
Gata4	T	A	14: 63,478,570 (GRCm39)	N10Y	probably damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm4787	A	C	12: 81,425,451 (GRCm39)	S236A	probably benign	Het
Golga7	A	C	8: 23,735,965 (GRCm39)	S94A	probably benign	Het
Gpbp1	A	G	13: 111,589,815 (GRCm39)		probably benign	Het
Grm1	A	G	10: 10,955,619 (GRCm39)	Y222H	probably benign	Het
Gstcd	A	G	3: 132,790,717 (GRCm39)	Y17H	possibly damaging	Het
Hephl1	C	A	9: 14,991,481 (GRCm39)	D586Y	probably damaging	Het
Hpn	C	A	7: 30,799,261 (GRCm39)	V35L	probably damaging	Het
Il23r	T	A	6: 67,400,725 (GRCm39)	N535I	probably damaging	Het
Inpp4a	T	C	1: 37,397,616 (GRCm39)	I45T	possibly damaging	Het
Itgae	G	C	11: 73,021,821 (GRCm39)	G901R	probably damaging	Het
Kif28	T	C	1: 179,530,103 (GRCm39)	D686G	probably damaging	Het
Kit	A	G	5: 75,781,507 (GRCm39)	E312G	probably benign	Het
Lamb2	C	A	9: 108,364,937 (GRCm39)	S1230R	probably benign	Het
Lars1	A	T	18: 42,361,842 (GRCm39)	D588E	possibly damaging	Het
Lgr4	T	A	2: 109,830,948 (GRCm39)	F292I	probably damaging	Het
Lmf1	C	T	17: 25,874,493 (GRCm39)	S458L	probably damaging	Het
Lpin2	T	A	17: 71,552,154 (GRCm39)	C787S	probably damaging	Het
Ms4a4a	A	C	19: 11,365,676 (GRCm39)	I138L	probably benign	Het
Mterf1a	A	T	5: 3,940,984 (GRCm39)	F295I	probably damaging	Het
Muc4	A	T	16: 32,577,432 (GRCm39)	K241*	probably null	Het
Muc5b	T	C	7: 141,419,268 (GRCm39)	F4017S	possibly damaging	Het
Nfkbil1	T	C	17: 35,440,384 (GRCm39)		probably benign	Het
Or10d5j	T	C	9: 39,868,202 (GRCm39)	T22A	probably benign	Het
Or4x6	A	G	2: 89,949,465 (GRCm39)	L159P	probably damaging	Het
Or8g21	A	T	9: 38,906,473 (GRCm39)	V86E	possibly damaging	Het
Osgep	T	C	14: 51,155,315 (GRCm39)	D81G	probably damaging	Het
Otos	A	G	1: 92,572,116 (GRCm39)	F70S	probably damaging	Het
Pcdhb2	T	A	18: 37,429,179 (GRCm39)	V384D	probably damaging	Het
Ppp1r10	C	T	17: 36,240,144 (GRCm39)	P514S	probably damaging	Het
Pramel14	G	A	4: 143,720,830 (GRCm39)	P37L	probably damaging	Het
Prdm16	A	G	4: 154,430,559 (GRCm39)	Y309H	probably damaging	Het
Rap1gds1	A	T	3: 138,661,962 (GRCm39)	D382E	probably damaging	Het
Reln	A	G	5: 22,153,627 (GRCm39)	F2226L	probably damaging	Het
Rmi2	C	T	16: 10,657,765 (GRCm39)	T125M	probably damaging	Het
Setd1a	C	T	7: 127,383,197 (GRCm39)	T231I	probably benign	Het
Sftpa1	G	A	14: 40,856,309 (GRCm39)	G218D	probably damaging	Het
Shcbp1	A	T	8: 4,786,138 (GRCm39)	F655I	probably damaging	Het
Slc5a7	T	C	17: 54,585,861 (GRCm39)	I319V	possibly damaging	Het
Sp140l2	G	A	1: 85,239,581 (GRCm39)	P19S	probably benign	Het
Spata31d1c	C	T	13: 65,183,409 (GRCm39)	T317I	probably damaging	Het
Speg	C	T	1: 75,404,742 (GRCm39)	P2845S	possibly damaging	Het
Synpo2	A	G	3: 123,029,550 (GRCm39)		probably null	Het
Tdpoz9	T	C	3: 93,957,451 (GRCm39)		probably benign	Het
Tdrd7	T	A	4: 46,013,191 (GRCm39)	S644T	probably damaging	Het
Tmem182	T	A	1: 40,877,460 (GRCm39)	Y112N	probably damaging	Het
Usp45	T	A	4: 21,824,815 (GRCm39)	N522K	probably benign	Het
Vnn3	A	T	10: 23,740,237 (GRCm39)	Y180F	probably benign	Het
Wnk1	C	T	6: 119,979,241 (GRCm39)	R282Q	possibly damaging	Het
Xrn1	A	T	9: 95,846,118 (GRCm39)	D57V	probably benign	Het
Zfp831	T	C	2: 174,486,357 (GRCm39)	V344A	probably benign	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
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'- AACCTTCAGGAGAATGGGACTG -3'
(R):5'- TGGCTGTTCTGAAAGCCTGG -3'

Sequencing Primer
(F):5'- AATGGGACTGCTTTTGAAGGAC -3'
(R):5'- TCCTGGAAACGTACCTGT -3'

Posted On

2016-06-21