Mutagenetix > Incidental Mutation

Incidental Mutation 'R5726:Fmo4'

458136

Institutional Source

Beutler Lab

Gene Symbol

Fmo4

Ensembl Gene

ENSMUSG00000026692

Gene Name

flavin containing monooxygenase 4

Synonyms

MMRRC Submission

043344-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

162793188-162813972 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 162808259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119389 (fasta)

Gene Model

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

AlphaFold

Q8VHG0

Predicted Effect

probably null
Transcript: ENSMUST00000028014

SMART Domains

Protein: ENSMUSP00000028014
Gene: ENSMUSG00000026692

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 null
Transcript: ENSMUST00000111525

SMART Domains

Protein: ENSMUSP00000107150
Gene: ENSMUSG00000026692

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 null
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

Meta Mutation Damage Score

0.9486

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (72/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 128,236,660	K254E	probably damaging	Het
Aak1	C	T	6: 86,925,124	Q92*	probably null	Het
Acss3	T	C	10: 107,123,322	T88A	possibly damaging	Het
Adcy4	A	T	14: 55,783,661	S6R	probably damaging	Het
Aldh1l2	T	C	10: 83,512,306	E311G	possibly damaging	Het
Arhgap25	C	T	6: 87,463,459	S402N	probably benign	Het
Btn1a1	T	A	13: 23,459,352	D309V	probably damaging	Het
Cdh23	C	T	10: 60,407,480	V1037M	probably damaging	Het
Clcn2	T	C	16: 20,710,535		probably benign	Het
Cln3	T	C	7: 126,575,501	T276A	probably null	Het
CN725425	A	G	15: 91,260,503	E523G	possibly damaging	Het
Cspg4	A	T	9: 56,885,904	T308S	probably damaging	Het
Dgkh	G	T	14: 78,624,902	F208L	probably benign	Het
Eif2ak4	A	G	2: 118,443,132	D846G	probably damaging	Het
Foxp4	A	G	17: 47,869,108	Y623H	unknown	Het
Fxr2	T	C	11: 69,633,346	V10A	probably benign	Het
Gm10271	T	C	10: 116,956,887		probably null	Het
Gsk3b	T	C	16: 38,208,136		probably benign	Het
Ift43	T	A	12: 86,162,183	D169E	probably damaging	Het
Ift57	T	A	16: 49,699,498	L54H	probably damaging	Het
Ighv1-37	T	C	12: 114,896,674		probably benign	Het
Ispd	T	C	12: 36,547,830	V320A	probably damaging	Het
Kl	A	G	5: 150,991,538	N910S	possibly damaging	Het
Lrp2	T	C	2: 69,509,147	D1140G	probably damaging	Het
Map1a	G	A	2: 121,305,065	A1883T	probably damaging	Het
Map4k2	G	T	19: 6,351,332	G611C	probably damaging	Het
Mical1	A	G	10: 41,483,696		probably benign	Het
Myh14	A	G	7: 44,643,462		probably null	Het
Myh8	T	A	11: 67,294,566	V881D	possibly damaging	Het
Myo1g	G	T	11: 6,509,420	Q817K	probably benign	Het
Nin	A	C	12: 70,078,179	V123G	probably damaging	Het
Nup160	A	G	2: 90,717,851	D976G	probably damaging	Het
Nup210l	A	T	3: 90,129,207		probably null	Het
Olfr262	A	G	19: 12,241,280	I127T	probably damaging	Het
Phf14	T	C	6: 11,933,538		probably benign	Het
Podxl2	T	C	6: 88,848,739	D400G	probably damaging	Het
Pygl	C	T	12: 70,191,142	W707*	probably null	Het
Rnf19b	T	C	4: 129,071,892	V261A	possibly damaging	Het
Rnf213	A	G	11: 119,416,458	Y648C	probably damaging	Het
Scn5a	C	T	9: 119,533,847	R569H	probably damaging	Het
Sdk2	A	G	11: 113,851,800	L761P	probably damaging	Het
Shroom3	C	T	5: 92,943,005	P1124S	probably benign	Het
Sirt4	A	G	5: 115,479,646	V317A	probably benign	Het
Slc12a2	G	T	18: 57,896,354	A271S	probably benign	Het
Slc6a9	A	G	4: 117,864,013	Y208C	probably damaging	Het
Snap23	T	A	2: 120,584,271		probably benign	Het
Sra1	C	T	18: 36,670,173		probably benign	Het
Srbd1	C	T	17: 86,120,729	D359N	possibly damaging	Het
Srp19	A	G	18: 34,331,773	Y22C	probably damaging	Het
Sstr4	T	C	2: 148,396,083	S205P	probably damaging	Het
Sv2b	T	C	7: 75,124,214	D503G	possibly damaging	Het
Tbc1d30	C	T	10: 121,267,574	V518M	probably damaging	Het
Tlr4	A	G	4: 66,840,415	K482E	probably benign	Het
Tpm1	G	A	9: 67,023,412	L310F	probably damaging	Het
Trpm6	A	G	19: 18,853,617	Y1282C	probably damaging	Het
Tsc22d1	T	A	14: 76,505,317	L65*	probably null	Het
Ttc37	T	C	13: 76,118,347	Y238H	probably damaging	Het
Ttc39c	C	A	18: 12,697,935	A284D	probably damaging	Het
Txndc16	G	A	14: 45,165,764	H297Y	probably benign	Het
Utrn	A	T	10: 12,669,806	D1698E	probably benign	Het
Vmn1r232	C	T	17: 20,913,339	R333H	probably benign	Het
Vmn2r14	A	T	5: 109,217,620	D529E	possibly damaging	Het
Vmn2r70	C	T	7: 85,559,107	V721I	probably damaging	Het
Zbtb18	A	G	1: 177,448,553	H484R	probably damaging	Het
Zc3h13	T	A	14: 75,330,829	S1187R	possibly damaging	Het
Zfhx4	T	A	3: 5,403,321	D2846E	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
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
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
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'- GAGAGTTGTAGTCATTTCTTCTCAG -3'
(R):5'- ACTTCCGAGGATGGGATGAC -3'

Sequencing Primer
(F):5'- ACTTTGACATTAAGAGGAGGACTC -3'
(R):5'- TGACCAGGGTTTACAGGTCAC -3'

Posted On

2017-02-16