Mutagenetix > Incidental Mutations

Incidental Mutation 'R1764:Fmo3'

193248

Institutional Source

Beutler Lab

Gene Symbol

Fmo3

Ensembl Gene

ENSMUSG00000026691

Gene Name

flavin containing monooxygenase 3

Synonyms

MMRRC Submission

039796-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

162953800-162984528 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 162958573 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 283 (V283M)

Ref Sequence

ENSEMBL: ENSMUSP00000028010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028010]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028010
AA Change: V283M

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028010
Gene: ENSMUSG00000026691
AA Change: V283M

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	534	7.7e-286	PFAM
Pfam:Pyr_redox_2	3	245	4.4e-15	PFAM
Pfam:Pyr_redox_3	6	220	1.1e-11	PFAM
Pfam:NAD_binding_8	7	71	3.1e-7	PFAM
Pfam:K_oxygenase	79	224	6.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142759

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

94% (94/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	T	5: 5,478,943	I24N	possibly damaging	Het
4930522L14Rik	A	G	5: 109,736,789	V401A	probably benign	Het
5830411N06Rik	A	G	7: 140,297,265	E831G	probably benign	Het
9930021J03Rik	T	A	19: 29,719,160	T978S	possibly damaging	Het
Abca7	G	T	10: 80,008,950	W1502L	probably damaging	Het
Adcy7	A	G	8: 88,308,840	E124G	probably benign	Het
Aif1l	G	A	2: 31,965,106	E66K	probably benign	Het
Aldh8a1	A	T	10: 21,395,493	M373L	probably benign	Het
Alg6	T	C	4: 99,741,578	Y131H	probably benign	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Arrdc4	A	T	7: 68,741,874	I215K	probably damaging	Het
Asb4	A	G	6: 5,390,798		probably null	Het
Astn1	T	C	1: 158,504,251	I305T	probably benign	Het
Atp5b	T	A	10: 128,084,080		probably benign	Het
Atp8a1	C	A	5: 67,631,567	M1044I	probably benign	Het
Atp9b	C	T	18: 80,909,591		probably null	Het
Btaf1	A	G	19: 36,951,118	H113R	probably benign	Het
C87436	G	T	6: 86,453,612	C338F	possibly damaging	Het
Casz1	T	C	4: 148,942,900		probably benign	Het
Cbr3	T	A	16: 93,690,482	H184Q	probably damaging	Het
Cct8l1	T	C	5: 25,517,099	S271P	possibly damaging	Het
Cdc34	A	G	10: 79,685,340	K77R	probably benign	Het
Cdc34	G	T	10: 79,685,338		probably null	Het
Cdh20	A	G	1: 104,934,345		probably benign	Het
Celsr3	A	G	9: 108,828,958	E880G	probably damaging	Het
Cers1	T	G	8: 70,321,491		probably null	Het
Cntn5	T	C	9: 9,673,983	I705V	probably benign	Het
Dennd4c	T	A	4: 86,803,010	D636E	probably damaging	Het
Dnah11	T	C	12: 118,190,825	E240G	probably benign	Het
Dnah2	T	C	11: 69,423,543	Y4100C	probably damaging	Het
Dpysl3	T	C	18: 43,363,518	E151G	probably damaging	Het
Efcab9	T	G	11: 32,524,457	T9P	possibly damaging	Het
Eif4g2	A	T	7: 111,074,487	F725Y	probably damaging	Het
Epha6	T	A	16: 59,775,728	I867F	probably null	Het
Erbin	T	C	13: 103,843,451		probably benign	Het
Evi5l	A	G	8: 4,203,560	E468G	probably damaging	Het
Filip1l	C	T	16: 57,570,038	R330W	probably damaging	Het
Gabarapl1	A	T	6: 129,533,518	K24N	possibly damaging	Het
Gigyf1	C	T	5: 137,522,508		probably benign	Het
Gm13089	C	A	4: 143,698,270	C201F	probably benign	Het
Gm5581	T	A	6: 131,181,399		noncoding transcript	Het
Gon4l	G	T	3: 88,892,599	K850N	probably damaging	Het
Igf2bp3	C	T	6: 49,109,046	R233H	probably damaging	Het
Iqcf4	G	A	9: 106,568,694	R85C	probably benign	Het
Kalrn	C	T	16: 34,212,873	R473Q	probably damaging	Het
Lmod2	T	A	6: 24,603,377	V117E	probably damaging	Het
Mapk11	A	G	15: 89,144,391		probably null	Het
Mcm3	G	A	1: 20,805,879	R664C	probably damaging	Het
Mex3d	A	G	10: 80,386,936	M162T	probably benign	Het
Mrgprb3	A	G	7: 48,643,023	I260T	probably benign	Het
Ncor2	G	T	5: 125,028,615	A1637D	possibly damaging	Het
Nedd4	T	A	9: 72,730,907	D441E	probably damaging	Het
Nek5	A	T	8: 22,109,912	C194S	probably damaging	Het
Nos1ap	T	C	1: 170,318,878	D369G	possibly damaging	Het
Ntrk1	G	T	3: 87,780,084	T681K	probably damaging	Het
Olfr1306	A	G	2: 111,912,181	F250L	possibly damaging	Het
Olfr538	T	C	7: 140,574,470	W106R	probably damaging	Het
Otogl	C	T	10: 107,899,461	W154*	probably null	Het
Pcdh20	T	C	14: 88,469,184	T227A	possibly damaging	Het
Pcdhb17	T	C	18: 37,487,271	S705P	probably damaging	Het
Piezo2	T	C	18: 63,124,642	H335R	possibly damaging	Het
Pkn2	T	C	3: 142,793,854	Q954R	probably damaging	Het
Prkcq	G	A	2: 11,232,631	V74M	probably damaging	Het
Prkrip1	A	T	5: 136,189,635		probably null	Het
Rb1cc1	A	G	1: 6,214,680		probably benign	Het
Rbm5	A	T	9: 107,767,564	Y11*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Ryr3	C	A	2: 112,860,460	V1082L	probably damaging	Het
Sel1l3	C	A	5: 53,170,447	E497*	probably null	Het
Serpina6	A	T	12: 103,653,923	I189N	probably damaging	Het
Serpinb11	A	T	1: 107,376,802	T166S	probably benign	Het
Skint7	T	C	4: 111,982,073	L188S	probably benign	Het
Slc25a45	C	T	19: 5,884,930	A269V	probably damaging	Het
Sltm	A	G	9: 70,561,800	T114A	probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Spen	C	A	4: 141,472,950	V2766L	probably damaging	Het
Srgap2	T	A	1: 131,319,537	I445F	possibly damaging	Het
Stox2	A	T	8: 47,194,016	Y200*	probably null	Het
Strada	C	A	11: 106,164,184	R384L	probably damaging	Het
Tctn2	G	A	5: 124,619,031		noncoding transcript	Het
Tgfbr3l	G	T	8: 4,249,282	R461L	probably benign	Het
Tmem65	A	G	15: 58,790,149		probably benign	Het
Tpst1	G	T	5: 130,114,502	V294F	possibly damaging	Het
Trim23	A	G	13: 104,198,618	Y384C	probably damaging	Het
Ube3b	C	G	5: 114,404,617	L512V	possibly damaging	Het
Ubxn4	T	A	1: 128,256,179	V92E	probably damaging	Het
Vmn2r57	A	T	7: 41,400,643	C561S	probably damaging	Het
Vwa8	A	G	14: 78,908,195	D104G	probably damaging	Het
Wdr25	T	A	12: 109,026,438	L73*	probably null	Het
Wnt9a	G	A	11: 59,330,902	A209T	probably benign	Het
Zcchc17	A	C	4: 130,329,595	C133G	probably damaging	Het
Zdhhc18	T	A	4: 133,608,676	M375L	probably benign	Het
Zfhx3	T	C	8: 108,951,644	F3109L	probably benign	Het
Zfp202	T	A	9: 40,210,466	D286E	probably benign	Het
Zzef1	T	C	11: 72,893,332	L2021P	probably benign	Het

Other mutations in Fmo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Fmo3	APN	1	162964030	missense	probably benign	0.15
IGL01124:Fmo3	APN	1	162958261	missense	probably damaging	1.00
IGL01645:Fmo3	APN	1	162964006	missense	possibly damaging	0.53
IGL01710:Fmo3	APN	1	162983043	missense	probably damaging	1.00
IGL01943:Fmo3	APN	1	162967006	missense	probably benign	0.01
IGL02489:Fmo3	APN	1	162954287	missense	possibly damaging	0.75
IGL02503:Fmo3	APN	1	162968864	missense	probably benign	0.03
IGL02743:Fmo3	APN	1	162958483	missense	probably damaging	1.00
IGL02974:Fmo3	APN	1	162983050	missense	probably damaging	1.00
IGL03023:Fmo3	APN	1	162958465	missense	probably benign	0.00
R0554:Fmo3	UTSW	1	162954332	missense	probably benign	0.03
R0629:Fmo3	UTSW	1	162958227	splice site	probably benign
R1209:Fmo3	UTSW	1	162964028	missense	probably benign	0.00
R1213:Fmo3	UTSW	1	162967823	missense	probably damaging	1.00
R1612:Fmo3	UTSW	1	162967885	missense	probably damaging	1.00
R1636:Fmo3	UTSW	1	162954425	missense	probably benign
R1710:Fmo3	UTSW	1	162967787	missense	possibly damaging	0.59
R1775:Fmo3	UTSW	1	162968725	missense	possibly damaging	0.54
R1906:Fmo3	UTSW	1	162966906	missense	probably damaging	1.00
R2363:Fmo3	UTSW	1	162954315	missense	probably damaging	0.98
R2418:Fmo3	UTSW	1	162966958	missense	probably benign
R2519:Fmo3	UTSW	1	162958305	missense	probably damaging	1.00
R3940:Fmo3	UTSW	1	162963986	missense	probably benign	0.01
R3977:Fmo3	UTSW	1	162958578	missense	probably damaging	0.99
R4779:Fmo3	UTSW	1	162968838	missense	probably damaging	1.00
R4846:Fmo3	UTSW	1	162954311	missense	possibly damaging	0.94
R4892:Fmo3	UTSW	1	162968731	missense	probably benign	0.00
R5102:Fmo3	UTSW	1	162963977	missense	probably benign	0.01
R5516:Fmo3	UTSW	1	162954426	nonsense	probably null
R6035:Fmo3	UTSW	1	162964036	missense	probably damaging	0.97
R6035:Fmo3	UTSW	1	162964036	missense	probably damaging	0.97
R7050:Fmo3	UTSW	1	162963904	missense	probably damaging	0.98
R7088:Fmo3	UTSW	1	162968865	missense	probably benign	0.04
R7205:Fmo3	UTSW	1	162954288	missense	possibly damaging	0.90
R7371:Fmo3	UTSW	1	162954227	missense	possibly damaging	0.57
R7685:Fmo3	UTSW	1	162958332	missense	possibly damaging	0.73
R8458:Fmo3	UTSW	1	162966940	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TCATCCAGGAAGGGGTAGGCATAAC -3'
(R):5'- TTCCTTAACAAACGCTTTGCTAGTTGC -3'

Sequencing Primer
(F):5'- TAACCATAGCCTGTGGCAAAG -3'
(R):5'- GCCAAAAACAATTTCTCTTACTTCC -3'

Posted On

2014-05-23