Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Fmo3'

57732

Institutional Source

Beutler Lab

Gene Symbol

Fmo3

Ensembl Gene

ENSMUSG00000026691

Gene Name

flavin containing monooxygenase 3

Synonyms

MMRRC Submission

038818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0629 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

162781369-162812097 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 162785796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028010 (fasta)

Gene Model

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

AlphaFold

P97501

Predicted Effect

probably benign
Transcript: ENSMUST00000028010

SMART Domains

Protein: ENSMUSP00000028010
Gene: ENSMUSG00000026691

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,818,473 (GRCm39)	D86V	probably damaging	Het
Adamts14	G	A	10: 61,047,403 (GRCm39)	Q733*	probably null	Het
Adcy10	A	G	1: 165,370,674 (GRCm39)	D651G	probably damaging	Het
Apcdd1	T	A	18: 63,067,041 (GRCm39)	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,209,172 (GRCm39)	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,352,108 (GRCm39)	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,486,673 (GRCm39)	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,300,369 (GRCm39)	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,052,064 (GRCm39)	M325R	possibly damaging	Het
Clca3a2	T	A	3: 144,778,000 (GRCm39)	M762L	probably benign	Het
Cntn3	C	T	6: 102,180,937 (GRCm39)	V753M	probably damaging	Het
Col6a6	A	T	9: 105,604,364 (GRCm39)		probably benign	Het
Dscaml1	A	G	9: 45,632,716 (GRCm39)	D1194G	probably damaging	Het
Egfr	G	A	11: 16,819,333 (GRCm39)	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,778,409 (GRCm39)	N19K	probably damaging	Het
Frmd6	T	C	12: 70,930,536 (GRCm39)	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,652,955 (GRCm39)	V193A	possibly damaging	Het
Gm7461	C	T	8: 4,727,769 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 115,789,651 (GRCm39)	N508K	possibly damaging	Het
Iqch	A	T	9: 63,332,664 (GRCm39)	D1019E	probably benign	Het
Isyna1	A	G	8: 71,047,358 (GRCm39)	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,166,216 (GRCm39)	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,077,572 (GRCm39)	P57L	probably benign	Het
Kcns3	A	C	12: 11,142,559 (GRCm39)	C47G	probably damaging	Het
Kif21b	A	T	1: 136,099,895 (GRCm39)		probably null	Het
Lama3	A	T	18: 12,552,302 (GRCm39)	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,581,951 (GRCm39)	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,526,489 (GRCm39)	D356V	probably damaging	Het
Morc2b	A	G	17: 33,354,781 (GRCm39)	M997T	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,645,137 (GRCm39)	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,613,791 (GRCm39)	T529A	possibly damaging	Het
Myo7a	A	C	7: 97,734,673 (GRCm39)	L607R	probably damaging	Het
Myom2	T	A	8: 15,119,783 (GRCm39)	F180I	probably damaging	Het
Myt1l	G	A	12: 29,861,484 (GRCm39)	E89K	unknown	Het
Nek2	A	G	1: 191,563,429 (GRCm39)	N431S	probably benign	Het
Oprm1	A	T	10: 6,782,604 (GRCm39)		probably null	Het
Or2aj4	A	T	16: 19,384,730 (GRCm39)	V301E	possibly damaging	Het
Or5t7	T	A	2: 86,506,873 (GRCm39)	H268L	possibly damaging	Het
Oxsr1	A	G	9: 119,070,850 (GRCm39)		probably benign	Het
Pasd1	G	C	X: 70,982,379 (GRCm39)	R296P	possibly damaging	Het
Pdgfrb	G	A	18: 61,211,720 (GRCm39)		probably null	Het
Proser1	C	A	3: 53,386,485 (GRCm39)	P789Q	probably benign	Het
Ptgs2	A	G	1: 149,976,788 (GRCm39)	Q7R	probably benign	Het
Rab3d	A	G	9: 21,825,982 (GRCm39)	V144A	probably benign	Het
Ralgapb	T	A	2: 158,281,467 (GRCm39)	L167H	probably damaging	Het
Ranbp3	A	G	17: 57,015,200 (GRCm39)	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,866,322 (GRCm39)	V587M	probably damaging	Het
Sec16b	A	G	1: 157,392,433 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,480,164 (GRCm39)		probably benign	Het
Slc10a2	T	C	8: 5,148,562 (GRCm39)	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,264,565 (GRCm39)	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896 (GRCm39)		probably null	Het
Trak1	A	T	9: 121,196,233 (GRCm39)	T22S	probably benign	Het
Trim30d	A	G	7: 104,136,862 (GRCm39)	I114T	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Ttn	T	C	2: 76,658,474 (GRCm39)		probably benign	Het
Vipr1	T	A	9: 121,489,237 (GRCm39)	Y99*	probably null	Het
Vmn1r210	T	C	13: 23,012,044 (GRCm39)	K81E	probably damaging	Het
Wwc1	T	C	11: 35,744,299 (GRCm39)	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,149,024 (GRCm39)		probably benign	Het
Zdhhc22	A	T	12: 87,035,071 (GRCm39)	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,814,785 (GRCm39)	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,962,659 (GRCm39)	L18I	probably damaging	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
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
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

PCR Primer
(F):5'- AAGCGACCATCTTCCCAGAAAGTG -3'
(R):5'- GGACCATGTTTGAGGCCATTGACTG -3'

Sequencing Primer
(F):5'- GGACTCAGGTAATAGTCAGTTTCCAG -3'
(R):5'- AGGCCATTGACTGTGTCATC -3'

Posted On

2013-07-11