Mutagenetix > Incidental Mutation

Incidental Mutation 'R6035:Fmo3'

479122

Institutional Source

Beutler Lab

Gene Symbol

Fmo3

Ensembl Gene

ENSMUSG00000026691

Gene Name

flavin containing monooxygenase 3

Synonyms

MMRRC Submission

044207-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6035 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

162781369-162812097 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 162791605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 224 (V224G)

Ref Sequence

ENSEMBL: ENSMUSP00000028010 (fasta)

Gene Model

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

AlphaFold

P97501

Predicted Effect

probably damaging
Transcript: ENSMUST00000028010
AA Change: V224G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028010
Gene: ENSMUSG00000026691
AA Change: V224G

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

Coding Region Coverage

1x: 99.8%
3x: 98.9%
10x: 91.8%
20x: 70.9%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,615,353 (GRCm39)	G76W	probably damaging	Het
Abca17	A	T	17: 24,500,219 (GRCm39)	F1324Y	possibly damaging	Het
Abca8b	A	T	11: 109,862,686 (GRCm39)		probably null	Het
Abcc12	A	G	8: 87,244,033 (GRCm39)	M1040T	probably damaging	Het
Abtb1	A	G	6: 88,818,788 (GRCm39)	F7L	probably damaging	Het
Adcy9	T	C	16: 4,122,377 (GRCm39)	T558A	probably benign	Het
Adgrb1	A	T	15: 74,412,292 (GRCm39)	T424S	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd31	C	A	13: 96,968,721 (GRCm39)	P786Q	probably benign	Het
Arhgap39	G	T	15: 76,621,424 (GRCm39)	Y392*	probably null	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Carmil2	G	T	8: 106,419,195 (GRCm39)	W749L	probably benign	Het
Ccar1	A	G	10: 62,587,564 (GRCm39)	Y867H	unknown	Het
Cdh13	A	G	8: 119,232,437 (GRCm39)	D47G	probably benign	Het
Chst9	T	A	18: 15,585,910 (GRCm39)	T218S	probably benign	Het
Clec2i	G	A	6: 128,870,587 (GRCm39)	V67I	probably benign	Het
Cox7a2	T	A	9: 79,667,028 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,519,030 (GRCm39)		probably null	Het
Cpz	A	G	5: 35,674,929 (GRCm39)	C107R	probably damaging	Het
Dapk1	T	A	13: 60,909,013 (GRCm39)	C1209S	possibly damaging	Het
Ddx41	T	C	13: 55,681,781 (GRCm39)	M307V	probably benign	Het
Defa24	A	G	8: 22,224,565 (GRCm39)	I5V	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Ebf2	A	G	14: 67,476,423 (GRCm39)	D131G	probably damaging	Het
Fam149b	C	T	14: 20,427,985 (GRCm39)	R424C	probably damaging	Het
Fbln2	G	A	6: 91,240,335 (GRCm39)	V714M	probably damaging	Het
Fgf5	T	C	5: 98,423,385 (GRCm39)	Y257H	probably damaging	Het
Gigyf2	T	C	1: 87,338,450 (GRCm39)	I394T	possibly damaging	Het
Glmn	T	A	5: 107,741,746 (GRCm39)		probably null	Het
Greb1l	T	C	18: 10,501,025 (GRCm39)	I385T	possibly damaging	Het
Grhl1	C	A	12: 24,658,449 (GRCm39)	Q365K	probably benign	Het
Gsdme	G	A	6: 50,206,306 (GRCm39)	T179M	probably damaging	Het
Gtf2a1l	A	G	17: 89,018,962 (GRCm39)	T349A	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Il5ra	G	A	6: 106,718,226 (GRCm39)	T76I	probably damaging	Het
Itga8	T	C	2: 12,196,525 (GRCm39)	T631A	probably benign	Het
Kcnh6	G	A	11: 105,909,978 (GRCm39)		probably null	Het
Krt26	C	T	11: 99,224,415 (GRCm39)	E368K	probably benign	Het
Lhx9	T	C	1: 138,766,281 (GRCm39)	D169G	possibly damaging	Het
Lmod3	A	G	6: 97,224,234 (GRCm39)	L529P	probably damaging	Het
Mroh2a	G	A	1: 88,158,390 (GRCm39)	V146M	probably damaging	Het
Nup155	A	G	15: 8,173,577 (GRCm39)	T891A	probably benign	Het
Or11g24	A	G	14: 50,661,984 (GRCm39)	T3A	probably benign	Het
Or1e1	T	C	11: 73,244,582 (GRCm39)	M1T	probably null	Het
Or1j13	T	A	2: 36,369,996 (GRCm39)	I49F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,285 (GRCm39)	*145R	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	C	12: 83,821,454 (GRCm39)	G262A	probably damaging	Het
Pdcd1lg2	G	A	19: 29,423,435 (GRCm39)	V160I	probably benign	Het
Pde8b	A	G	13: 95,164,105 (GRCm39)		probably benign	Het
Ppme1	G	A	7: 100,004,002 (GRCm39)	R68*	probably null	Het
Ptprn2	A	T	12: 117,219,215 (GRCm39)	N949Y	probably damaging	Het
Qser1	C	A	2: 104,617,468 (GRCm39)	D1115Y	probably damaging	Het
Rad54l	G	T	4: 115,954,666 (GRCm39)	D674E	probably damaging	Het
Ripk4	T	A	16: 97,545,387 (GRCm39)	D420V	probably damaging	Het
Ros1	G	T	10: 51,954,067 (GRCm39)	S1857R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsf1	A	G	7: 97,311,316 (GRCm39)	E682G	probably benign	Het
Samd4	G	A	14: 47,325,329 (GRCm39)	R515H	probably damaging	Het
Selp	T	A	1: 163,969,079 (GRCm39)	W560R	probably benign	Het
Shc3	A	T	13: 51,615,468 (GRCm39)	L163Q	probably damaging	Het
Shh	G	A	5: 28,666,397 (GRCm39)	A163V	probably damaging	Het
Slc17a8	T	C	10: 89,427,937 (GRCm39)	R113G	possibly damaging	Het
Slc5a6	C	A	5: 31,206,168 (GRCm39)		probably benign	Het
Smarcd2	A	G	11: 106,157,715 (GRCm39)		probably null	Het
Sytl3	A	G	17: 6,995,664 (GRCm39)	D148G	probably damaging	Het
Tnks	G	T	8: 35,385,615 (GRCm39)	H297Q	possibly damaging	Het
Trbv21	A	T	6: 41,179,568 (GRCm39)		probably benign	Het
Ube3c	T	C	5: 29,806,161 (GRCm39)	F268L	probably benign	Het
Ugt2b5	T	C	5: 87,287,541 (GRCm39)	I209V	probably benign	Het
Usp1	A	G	4: 98,818,082 (GRCm39)	N140S	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn1r129	T	A	7: 21,094,534 (GRCm39)	Q228L	probably damaging	Het
Vmn1r209	T	A	13: 22,990,202 (GRCm39)	N163Y	probably benign	Het
Vmn1r85	A	G	7: 12,818,854 (GRCm39)	S97P	probably damaging	Het
Vmn2r30	C	T	7: 7,337,350 (GRCm39)	M95I	probably benign	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Wdr70	G	A	15: 7,916,830 (GRCm39)	T529I	possibly damaging	Het
Zfp532	T	G	18: 65,757,005 (GRCm39)	S313A	possibly damaging	Het
Zhx3	A	T	2: 160,621,463 (GRCm39)	N901K	probably benign	Het

Other mutations in Fmo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Fmo3	APN	1	162,791,599 (GRCm39)	missense	probably benign	0.15
IGL01124:Fmo3	APN	1	162,785,830 (GRCm39)	missense	probably damaging	1.00
IGL01645:Fmo3	APN	1	162,791,575 (GRCm39)	missense	possibly damaging	0.53
IGL01710:Fmo3	APN	1	162,810,612 (GRCm39)	missense	probably damaging	1.00
IGL01943:Fmo3	APN	1	162,794,575 (GRCm39)	missense	probably benign	0.01
IGL02489:Fmo3	APN	1	162,781,856 (GRCm39)	missense	possibly damaging	0.75
IGL02503:Fmo3	APN	1	162,796,433 (GRCm39)	missense	probably benign	0.03
IGL02743:Fmo3	APN	1	162,786,052 (GRCm39)	missense	probably damaging	1.00
IGL02974:Fmo3	APN	1	162,810,619 (GRCm39)	missense	probably damaging	1.00
IGL03023:Fmo3	APN	1	162,786,034 (GRCm39)	missense	probably benign	0.00
R0554:Fmo3	UTSW	1	162,781,901 (GRCm39)	missense	probably benign	0.03
R0629:Fmo3	UTSW	1	162,785,796 (GRCm39)	splice site	probably benign
R1209:Fmo3	UTSW	1	162,791,597 (GRCm39)	missense	probably benign	0.00
R1213:Fmo3	UTSW	1	162,795,392 (GRCm39)	missense	probably damaging	1.00
R1612:Fmo3	UTSW	1	162,795,454 (GRCm39)	missense	probably damaging	1.00
R1636:Fmo3	UTSW	1	162,781,994 (GRCm39)	missense	probably benign
R1710:Fmo3	UTSW	1	162,795,356 (GRCm39)	missense	possibly damaging	0.59
R1764:Fmo3	UTSW	1	162,786,142 (GRCm39)	missense	possibly damaging	0.79
R1775:Fmo3	UTSW	1	162,796,294 (GRCm39)	missense	possibly damaging	0.54
R1906:Fmo3	UTSW	1	162,794,475 (GRCm39)	missense	probably damaging	1.00
R2363:Fmo3	UTSW	1	162,781,884 (GRCm39)	missense	probably damaging	0.98
R2418:Fmo3	UTSW	1	162,794,527 (GRCm39)	missense	probably benign
R2519:Fmo3	UTSW	1	162,785,874 (GRCm39)	missense	probably damaging	1.00
R3940:Fmo3	UTSW	1	162,791,555 (GRCm39)	missense	probably benign	0.01
R3977:Fmo3	UTSW	1	162,786,147 (GRCm39)	missense	probably damaging	0.99
R4779:Fmo3	UTSW	1	162,796,407 (GRCm39)	missense	probably damaging	1.00
R4846:Fmo3	UTSW	1	162,781,880 (GRCm39)	missense	possibly damaging	0.94
R4892:Fmo3	UTSW	1	162,796,300 (GRCm39)	missense	probably benign	0.00
R5102:Fmo3	UTSW	1	162,791,546 (GRCm39)	missense	probably benign	0.01
R5516:Fmo3	UTSW	1	162,781,995 (GRCm39)	nonsense	probably null
R6035:Fmo3	UTSW	1	162,791,605 (GRCm39)	missense	probably damaging	0.97
R7050:Fmo3	UTSW	1	162,791,473 (GRCm39)	missense	probably damaging	0.98
R7088:Fmo3	UTSW	1	162,796,434 (GRCm39)	missense	probably benign	0.04
R7205:Fmo3	UTSW	1	162,781,857 (GRCm39)	missense	possibly damaging	0.90
R7371:Fmo3	UTSW	1	162,781,796 (GRCm39)	missense	possibly damaging	0.57
R7685:Fmo3	UTSW	1	162,785,901 (GRCm39)	missense	possibly damaging	0.73
R8458:Fmo3	UTSW	1	162,794,509 (GRCm39)	missense	possibly damaging	0.89
R8821:Fmo3	UTSW	1	162,796,407 (GRCm39)	missense	probably damaging	1.00
R9371:Fmo3	UTSW	1	162,796,281 (GRCm39)	missense	probably benign	0.18
R9564:Fmo3	UTSW	1	162,786,021 (GRCm39)	missense	probably damaging	1.00
R9764:Fmo3	UTSW	1	162,794,524 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2017-06-26