Mutagenetix > Incidental Mutations

Incidental Mutation 'R1117:Fmo4'

97380

Institutional Source

Beutler Lab

Gene Symbol

Fmo4

Ensembl Gene

ENSMUSG00000026692

Gene Name

flavin containing monooxygenase 4

Synonyms

MMRRC Submission

039190-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R1117 (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 162803663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 245 (V245A)

Ref Sequence

ENSEMBL: ENSMUSP00000107150 (fasta)

Gene Model

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

AlphaFold

Q8VHG0

Predicted Effect

probably benign
Transcript: ENSMUST00000028014
AA Change: V245A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028014
Gene: ENSMUSG00000026692
AA Change: V245A

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 benign
Transcript: ENSMUST00000111525
AA Change: V245A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107150
Gene: ENSMUSG00000026692
AA Change: V245A

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.1%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	G	A	10: 83,508,623	T353I	probably benign	Het
Arpc1b	T	C	5: 145,125,754	V226A	possibly damaging	Het
Casz1	C	A	4: 148,934,595	T451K	probably damaging	Het
Ccr4	C	T	9: 114,492,017	V327M	probably benign	Het
Cntrl	A	G	2: 35,127,973	E465G	probably damaging	Het
Cpa1	A	G	6: 30,645,261	D412G	probably benign	Het
Crispld1	T	A	1: 17,749,622	N281K	probably benign	Het
Cul3	T	C	1: 80,280,924	Q465R	probably damaging	Het
Cyp2c68	G	A	19: 39,712,459	T305M	probably damaging	Het
Elp4	T	C	2: 105,842,311	D143G	probably benign	Het
Etnppl	A	G	3: 130,634,563	I462M	probably benign	Het
Gm4076	A	G	13: 85,127,318		noncoding transcript	Het
Gm9573	T	C	17: 35,620,028		probably benign	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Kcnj15	G	A	16: 95,295,625	M8I	probably benign	Het
Klk1b22	A	T	7: 44,116,859	M255L	probably benign	Het
Mmrn1	T	A	6: 60,976,325	I530K	possibly damaging	Het
Nid2	A	C	14: 19,763,664		probably null	Het
Olfr311	A	G	11: 58,841,815	K234E	possibly damaging	Het
Olfr63	C	T	17: 33,268,966	R81*	probably null	Het
Olfr981	T	C	9: 40,022,762	F123S	probably damaging	Het
Peak1	G	A	9: 56,258,418	T742M	probably benign	Het
Sel1l3	T	A	5: 53,172,607	T469S	probably benign	Het
Sez6	A	G	11: 77,974,514	Y659C	probably damaging	Het
Slc19a2	A	T	1: 164,263,456	I278F	possibly damaging	Het
Slc36a3	T	C	11: 55,146,180	I100V	possibly damaging	Het
Tcerg1	A	G	18: 42,574,652	D1079G	probably damaging	Het
Trim43c	T	C	9: 88,844,977	S286P	probably benign	Het
Umod	T	C	7: 119,477,306	N79S	possibly damaging	Het
Wdr43	A	G	17: 71,616,387	T43A	probably benign	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
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
R4273:Fmo4	UTSW	1	162805179	missense	probably damaging	0.97
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
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'- TGCTACATGCACATATAGAACTCCACTGATAA -3'
(R):5'- AAACTACCAGACCAGAGCctgaaga -3'

Sequencing Primer
(F):5'- CCATGGAATGAAAACTCAAGTACC -3'
(R):5'- gccccaaataaacaaggtagag -3'

Posted On

2014-01-05