Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Fmo4'

322247

Institutional Source

Beutler Lab

Gene Symbol

Fmo4

Ensembl Gene

ENSMUSG00000026692

Gene Name

flavin containing monooxygenase 4

Synonyms

MMRRC Submission

041645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

162793188-162813972 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 162805179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 201 (V201A)

Ref Sequence

ENSEMBL: ENSMUSP00000107150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028014] [ENSMUST00000111525] [ENSMUST00000140274] [ENSMUST00000144916]

AlphaFold

Q8VHG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000028014
AA Change: V201A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028014
Gene: ENSMUSG00000026692
AA Change: V201A

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	531	9.4e-272	PFAM
Pfam:Pyr_redox_2	4	430	1e-8	PFAM
Pfam:Pyr_redox_3	6	220	5.1e-16	PFAM
Pfam:K_oxygenase	68	227	1.7e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111525
AA Change: V201A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107150
Gene: ENSMUSG00000026692
AA Change: V201A

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	531	9.4e-272	PFAM
Pfam:Pyr_redox_2	3	225	1.7e-11	PFAM
Pfam:Pyr_redox_3	6	220	2.5e-9	PFAM
Pfam:K_oxygenase	67	227	6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140031

Predicted Effect

probably benign
Transcript: ENSMUST00000140274

SMART Domains

Protein: ENSMUSP00000118476
Gene: ENSMUSG00000026692

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	99	1.5e-57	PFAM
Pfam:NAD_binding_8	7	94	1.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144916

SMART Domains

Protein: ENSMUSP00000119389
Gene: ENSMUSG00000026692

Domain	Start	End	E-Value	Type
Pfam:FMO-like	1	114	2.6e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193508

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Metabolic N-oxidation of diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme 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. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,598		probably null	Het
Adgrf2	T	A	17: 42,710,122	T604S	probably damaging	Het
Akap8l	T	A	17: 32,321,931	K533*	probably null	Het
Appbp2	T	C	11: 85,234,676	Y45C	probably damaging	Het
Arap2	T	C	5: 62,670,979	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,602,335	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,435,140	N493K	probably benign	Het
Bcr	T	C	10: 75,125,111	I458T	probably damaging	Het
Brd4	G	A	17: 32,214,782	T468I	probably benign	Het
Cdh23	T	A	10: 60,311,161	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 111,768,785	Y267C	probably damaging	Het
Chd6	C	A	2: 160,961,291	A2156S	probably benign	Het
Dazap2	C	A	15: 100,618,090	P100T	probably damaging	Het
Disp1	T	A	1: 183,087,644	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 70,766,043	S686T	probably benign	Het
Dst	C	T	1: 34,192,340	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,101,807	N279D	probably benign	Het
Exoc3l	T	C	8: 105,289,961	*740W	probably null	Het
Exoc5	A	T	14: 49,015,480	C625*	probably null	Het
Fam98b	A	T	2: 117,260,231	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,682,848	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,627,522	V1247A	probably benign	Het
Fras1	G	A	5: 96,614,904	G755D	probably benign	Het
Gm13078	A	T	4: 143,726,846	K175*	probably null	Het
Grid2	T	C	6: 63,909,045	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,726,731	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,564,956	M414T	probably damaging	Het
Itm2c	A	G	1: 85,907,029	T160A	probably damaging	Het
Kcna2	T	A	3: 107,105,193	D363E	probably benign	Het
Lama2	C	T	10: 27,347,054	C412Y	probably damaging	Het
Lims2	C	G	18: 31,956,337	T151S	probably benign	Het
Mier1	T	C	4: 103,162,431	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,589,432	W249R	probably benign	Het
Mtor	A	G	4: 148,550,152	H2410R	probably benign	Het
Mvp	C	T	7: 126,989,703	A631T	probably benign	Het
Nepro	T	C	16: 44,735,829	V450A	possibly damaging	Het
Ngrn	T	C	7: 80,264,521	V140A	probably damaging	Het
Nobox	T	C	6: 43,306,008	E231G	probably benign	Het
Olfr129	A	T	17: 38,055,272	I98N	probably damaging	Het
P3h2	T	A	16: 26,105,221	I155F	probably benign	Het
Pcdha3	C	T	18: 36,948,091	R629C	probably damaging	Het
Riok3	AGAAGCGG	AG	18: 12,135,941		probably benign	Het
Rttn	T	C	18: 89,091,896	I1675T	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,304,301	T182N	possibly damaging	Het
Slc52a3	T	A	2: 152,005,740	I256N	possibly damaging	Het
Sox9	T	C	11: 112,785,154	S390P	possibly damaging	Het
Tango2	T	C	16: 18,302,790		probably benign	Het
Tas1r1	T	C	4: 152,032,157	E340G	possibly damaging	Het
Tek	G	A	4: 94,829,970	G524R	probably damaging	Het
Tmem260	A	T	14: 48,505,304	Y532F	probably benign	Het
Tsks	C	A	7: 44,957,929	L559I	probably damaging	Het
Unc79	C	A	12: 103,122,353	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,234,148	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,452,966	C710Y	probably benign	Het
Zfp119b	G	T	17: 55,938,926	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,207,494	R68*	probably null	Het
Zfp229	T	A	17: 21,746,821	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411	H126Y	probably benign	Het
Zfp52	C	A	17: 21,560,197	Y102*	probably null	Het
Zfp616	T	A	11: 74,083,700	M265K	probably benign	Het
Zfyve9	A	T	4: 108,680,976	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,697,690	Y203C	probably damaging	Het

Other mutations in Fmo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Fmo4	APN	1	162794023	missense	probably benign	0.00
IGL01090:Fmo4	APN	1	162809785	splice site	probably null
IGL01295:Fmo4	APN	1	162799124	missense	probably damaging	1.00
IGL02089:Fmo4	APN	1	162799080	missense	probably benign	0.04
IGL02483:Fmo4	APN	1	162808421	missense	possibly damaging	0.60
R0608:Fmo4	UTSW	1	162803651	missense	possibly damaging	0.95
R0660:Fmo4	UTSW	1	162809848	missense	probably benign	0.05
R0737:Fmo4	UTSW	1	162808392	nonsense	probably null
R1117:Fmo4	UTSW	1	162803663	missense	probably benign	0.03
R1464:Fmo4	UTSW	1	162794355	missense	possibly damaging	0.54
R1464:Fmo4	UTSW	1	162794355	missense	possibly damaging	0.54
R1577:Fmo4	UTSW	1	162803700	missense	possibly damaging	0.50
R1792:Fmo4	UTSW	1	162794290	missense	probably benign
R1875:Fmo4	UTSW	1	162803618	missense	possibly damaging	0.95
R1929:Fmo4	UTSW	1	162799047	missense	possibly damaging	0.95
R1956:Fmo4	UTSW	1	162803690	missense	probably benign	0.01
R1957:Fmo4	UTSW	1	162803690	missense	probably benign	0.01
R1958:Fmo4	UTSW	1	162803690	missense	probably benign	0.01
R2011:Fmo4	UTSW	1	162798889	missense	probably damaging	1.00
R2030:Fmo4	UTSW	1	162794172	missense	probably damaging	1.00
R2072:Fmo4	UTSW	1	162809887	missense	probably benign	0.20
R2272:Fmo4	UTSW	1	162799047	missense	possibly damaging	0.95
R3890:Fmo4	UTSW	1	162794055	missense	probably benign	0.39
R4255:Fmo4	UTSW	1	162794326	missense	probably benign	0.00
R4760:Fmo4	UTSW	1	162809827	missense	probably damaging	1.00
R5445:Fmo4	UTSW	1	162805273	missense	probably benign	0.24
R5726:Fmo4	UTSW	1	162808259	critical splice donor site	probably null
R5786:Fmo4	UTSW	1	162803717	missense	probably benign	0.00
R6391:Fmo4	UTSW	1	162793969	nonsense	probably null
R6826:Fmo4	UTSW	1	162803769	missense	probably damaging	1.00
R7457:Fmo4	UTSW	1	162794103	missense	probably benign	0.00
R7913:Fmo4	UTSW	1	162794172	missense	possibly damaging	0.69
R8031:Fmo4	UTSW	1	162798852	nonsense	probably null
R8055:Fmo4	UTSW	1	162808446	missense	probably benign
R8234:Fmo4	UTSW	1	162805188	missense	probably damaging	1.00
R8346:Fmo4	UTSW	1	162794223	missense	probably benign	0.01
R8706:Fmo4	UTSW	1	162794023	nonsense	probably null
R9050:Fmo4	UTSW	1	162807530	missense	probably benign	0.15
R9467:Fmo4	UTSW	1	162803669	missense	probably benign
R9488:Fmo4	UTSW	1	162803768	missense	probably damaging	1.00
R9633:Fmo4	UTSW	1	162803622	missense	probably benign	0.00
X0020:Fmo4	UTSW	1	162794378	missense	probably benign	0.02
Z1177:Fmo4	UTSW	1	162803720	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTTTTCTGAAAGAGCAGACCAAG -3'
(R):5'- CTGCAAGTGGTGATACAAGC -3'

Sequencing Primer
(F):5'- CCAAGAGTGGCTTTGGGAC -3'
(R):5'- GTGGTGATACAAGCAGCAAGTTTCTC -3'

Posted On

2015-06-20