Mutagenetix > Incidental Mutation

Incidental Mutation 'R1958:Fmo4'

217990

Institutional Source

Beutler Lab

Gene Symbol

Fmo4

Ensembl Gene

ENSMUSG00000026692

Gene Name

flavin containing monooxygenase 4

Synonyms

MMRRC Submission

039972-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R1958 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

162620757-162641541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 162631259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 236 (T236I)

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: T236I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000028014
Gene: ENSMUSG00000026692
AA Change: T236I

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: T236I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000107150
Gene: ENSMUSG00000026692
AA Change: T236I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

97% (99/102)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	T	4: 62,457,146 (GRCm39)	N155I	probably benign	Het
Abca14	A	G	7: 119,924,382 (GRCm39)	Y1678C	probably damaging	Het
Adamts19	A	T	18: 59,103,078 (GRCm39)	R706S	probably benign	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Adss2	A	G	1: 177,597,544 (GRCm39)	I372T	probably damaging	Het
Arhgap15	T	A	2: 44,133,136 (GRCm39)	D347E	possibly damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Asb8	T	C	15: 98,034,097 (GRCm39)	T153A	possibly damaging	Het
Aspscr1	G	T	11: 120,580,034 (GRCm39)	G191V	probably null	Het
Atm	T	C	9: 53,382,718 (GRCm39)	H1957R	probably damaging	Het
Atp13a5	A	G	16: 29,133,419 (GRCm39)	Y411H	probably damaging	Het
Cadm1	T	G	9: 47,761,633 (GRCm39)	I411S	probably damaging	Het
Cdh23	T	A	10: 60,246,652 (GRCm39)	M927L	probably benign	Het
Cdk15	A	T	1: 59,383,475 (GRCm39)	R423W	probably damaging	Het
Cep250	T	A	2: 155,818,301 (GRCm39)		probably null	Het
Cfap43	T	A	19: 47,885,649 (GRCm39)	Y322F	probably benign	Het
Cfap54	T	C	10: 92,833,204 (GRCm39)	S1141G	probably benign	Het
Clnk	T	C	5: 38,863,969 (GRCm39)	Y428C	possibly damaging	Het
Cnksr1	A	G	4: 133,955,727 (GRCm39)	S668P	probably benign	Het
Cpxm2	A	T	7: 131,663,876 (GRCm39)	I349N	probably damaging	Het
Csmd3	A	G	15: 47,868,035 (GRCm39)		probably null	Het
Cstdc3	T	C	16: 36,132,927 (GRCm39)	L68P	possibly damaging	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dph2	A	T	4: 117,749,041 (GRCm39)	F5I	probably damaging	Het
Dst	T	A	1: 34,202,802 (GRCm39)	F325L	probably damaging	Het
Edem3	T	C	1: 151,680,076 (GRCm39)	L474S	probably damaging	Het
Emilin1	T	A	5: 31,075,160 (GRCm39)	L467Q	probably benign	Het
Fam170a	G	A	18: 50,415,181 (GRCm39)	E276K	probably benign	Het
Farp1	A	T	14: 121,456,787 (GRCm39)		probably null	Het
Fbrs	A	T	7: 127,085,163 (GRCm39)	T584S	possibly damaging	Het
Fbxo22	T	A	9: 55,116,626 (GRCm39)		probably null	Het
Fhod3	T	G	18: 25,223,522 (GRCm39)	L956R	probably damaging	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm11444	A	T	11: 85,738,999 (GRCm39)		probably benign	Het
Gm14443	T	C	2: 175,011,497 (GRCm39)	I316M	probably benign	Het
Has3	A	T	8: 107,605,435 (GRCm39)	Y547F	probably benign	Het
Hdhd2	A	G	18: 77,052,841 (GRCm39)	T164A	probably benign	Het
Hoxb9	T	A	11: 96,162,880 (GRCm39)	D171E	possibly damaging	Het
Hpx	A	G	7: 105,245,603 (GRCm39)	Y118H	probably damaging	Het
Iqsec1	T	C	6: 90,647,441 (GRCm39)	K858E	probably damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Lama2	C	A	10: 26,857,594 (GRCm39)	R3085L	probably damaging	Het
Lyst	C	A	13: 13,791,203 (GRCm39)	A22E	probably damaging	Het
Man2a1	T	C	17: 65,057,830 (GRCm39)	F1079L	probably benign	Het
Marco	C	T	1: 120,412,593 (GRCm39)	G303R	probably damaging	Het
Marveld2	A	C	13: 100,733,858 (GRCm39)	I536R	probably damaging	Het
Mcm5	A	G	8: 75,848,257 (GRCm39)	D502G	probably benign	Het
Mdga1	A	T	17: 30,059,862 (GRCm39)	L653Q	probably damaging	Het
Mical2	A	G	7: 111,980,311 (GRCm39)	D161G	probably benign	Het
Mroh2a	C	T	1: 88,165,213 (GRCm39)	R445*	probably null	Het
Mrpl46	A	T	7: 78,431,146 (GRCm39)		probably null	Het
Nckipsd	C	A	9: 108,691,863 (GRCm39)		probably null	Het
Nek11	T	C	9: 105,170,916 (GRCm39)	D373G	probably benign	Het
Nle1	G	A	11: 82,795,068 (GRCm39)	S321F	probably benign	Het
Noxa1	A	G	2: 24,980,620 (GRCm39)	S130P	probably damaging	Het
Or10a5	A	G	7: 106,635,478 (GRCm39)	T39A	possibly damaging	Het
Or51v14	T	A	7: 103,260,618 (GRCm39)	*314L	probably null	Het
Or5l13	A	T	2: 87,779,809 (GRCm39)	L256H	probably damaging	Het
Or8b39	T	A	9: 37,996,419 (GRCm39)	C96S	probably damaging	Het
Parp3	T	G	9: 106,352,021 (GRCm39)		probably null	Het
Pask	A	T	1: 93,249,180 (GRCm39)	I740N	probably benign	Het
Pelp1	A	G	11: 70,289,347 (GRCm39)	F221S	probably damaging	Het
Pkd1l1	T	G	11: 8,824,161 (GRCm39)	K1135Q	probably benign	Het
Plcl2	A	T	17: 50,915,109 (GRCm39)	Q706L	probably damaging	Het
Psg26	T	C	7: 18,212,264 (GRCm39)	T364A	probably benign	Het
Ptprb	C	T	10: 116,177,441 (GRCm39)	T1047M	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab37	C	T	11: 115,051,177 (GRCm39)	A155V	probably damaging	Het
Rbbp6	A	C	7: 122,601,168 (GRCm39)		probably benign	Het
Rbmxl2	A	G	7: 106,809,405 (GRCm39)	D230G	probably benign	Het
Rsf1	CGGCGGCGGCGGCGGCGGCGGCGGCGGC	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,115 (GRCm39)		probably benign	Het
Sass6	G	T	3: 116,403,945 (GRCm39)	K194N	possibly damaging	Het
Sgpp1	T	G	12: 75,782,222 (GRCm39)	D39A	probably benign	Het
Shank3	T	C	15: 89,387,351 (GRCm39)	V198A	probably damaging	Het
Sin3a	T	A	9: 57,012,893 (GRCm39)	S591T	probably damaging	Het
Slc12a6	C	T	2: 112,185,503 (GRCm39)	T924I	possibly damaging	Het
Sln	T	A	9: 53,760,785 (GRCm39)	I10N	probably benign	Het
St3gal3	A	T	4: 117,797,268 (GRCm39)	M309K	probably damaging	Het
Syne2	T	A	12: 76,016,319 (GRCm39)	D3301E	probably benign	Het
Tgtp2	A	G	11: 48,949,919 (GRCm39)	S218P	probably damaging	Het
Tha1	C	T	11: 117,760,179 (GRCm39)		probably benign	Het
Tmem102	A	G	11: 69,695,225 (GRCm39)	V249A	probably benign	Het
Top3b	G	A	16: 16,702,166 (GRCm39)	E268K	possibly damaging	Het
Trip4	T	C	9: 65,746,307 (GRCm39)	S530G	possibly damaging	Het
Tut1	T	A	19: 8,936,677 (GRCm39)	V167E	probably damaging	Het
Tut4	A	T	4: 108,412,903 (GRCm39)	S1535C	probably damaging	Het
Ube2u	A	T	4: 100,338,833 (GRCm39)	M33L	probably benign	Het
Unc79	T	C	12: 102,957,621 (GRCm39)	I12T	probably damaging	Het
Unc79	A	T	12: 103,041,178 (GRCm39)	D737V	probably benign	Het
Vmn1r26	A	G	6: 57,985,286 (GRCm39)	V301A	probably benign	Het
Vmn1r86	A	G	7: 12,836,621 (GRCm39)	V35A	possibly damaging	Het
Vmn2r98	A	C	17: 19,286,680 (GRCm39)	N393H	possibly damaging	Het
Vps13b	T	G	15: 35,878,835 (GRCm39)	S2945A	probably damaging	Het
Whrn	C	T	4: 63,353,666 (GRCm39)	R367H	possibly damaging	Het
Zfp235	A	T	7: 23,839,771 (GRCm39)	L133F	probably damaging	Het
Zfp74	T	C	7: 29,635,136 (GRCm39)	T191A	probably benign	Het
Zfp943	A	T	17: 22,211,979 (GRCm39)	K355I	probably damaging	Het
Zranb1	T	G	7: 132,584,458 (GRCm39)	S601R	probably damaging	Het
Zscan29	A	T	2: 121,000,289 (GRCm39)		probably null	Het

Other mutations in Fmo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Fmo4	APN	1	162,621,592 (GRCm39)	missense	probably benign	0.00
IGL01090:Fmo4	APN	1	162,637,354 (GRCm39)	splice site	probably null
IGL01295:Fmo4	APN	1	162,626,693 (GRCm39)	missense	probably damaging	1.00
IGL02089:Fmo4	APN	1	162,626,649 (GRCm39)	missense	probably benign	0.04
IGL02483:Fmo4	APN	1	162,635,990 (GRCm39)	missense	possibly damaging	0.60
R0608:Fmo4	UTSW	1	162,631,220 (GRCm39)	missense	possibly damaging	0.95
R0660:Fmo4	UTSW	1	162,637,417 (GRCm39)	missense	probably benign	0.05
R0737:Fmo4	UTSW	1	162,635,961 (GRCm39)	nonsense	probably null
R1117:Fmo4	UTSW	1	162,631,232 (GRCm39)	missense	probably benign	0.03
R1464:Fmo4	UTSW	1	162,621,924 (GRCm39)	missense	possibly damaging	0.54
R1464:Fmo4	UTSW	1	162,621,924 (GRCm39)	missense	possibly damaging	0.54
R1577:Fmo4	UTSW	1	162,631,269 (GRCm39)	missense	possibly damaging	0.50
R1792:Fmo4	UTSW	1	162,621,859 (GRCm39)	missense	probably benign
R1875:Fmo4	UTSW	1	162,631,187 (GRCm39)	missense	possibly damaging	0.95
R1929:Fmo4	UTSW	1	162,626,616 (GRCm39)	missense	possibly damaging	0.95
R1956:Fmo4	UTSW	1	162,631,259 (GRCm39)	missense	probably benign	0.01
R1957:Fmo4	UTSW	1	162,631,259 (GRCm39)	missense	probably benign	0.01
R2011:Fmo4	UTSW	1	162,626,458 (GRCm39)	missense	probably damaging	1.00
R2030:Fmo4	UTSW	1	162,621,741 (GRCm39)	missense	probably damaging	1.00
R2072:Fmo4	UTSW	1	162,637,456 (GRCm39)	missense	probably benign	0.20
R2272:Fmo4	UTSW	1	162,626,616 (GRCm39)	missense	possibly damaging	0.95
R3890:Fmo4	UTSW	1	162,621,624 (GRCm39)	missense	probably benign	0.39
R4255:Fmo4	UTSW	1	162,621,895 (GRCm39)	missense	probably benign	0.00
R4273:Fmo4	UTSW	1	162,632,748 (GRCm39)	missense	probably damaging	0.97
R4760:Fmo4	UTSW	1	162,637,396 (GRCm39)	missense	probably damaging	1.00
R5445:Fmo4	UTSW	1	162,632,842 (GRCm39)	missense	probably benign	0.24
R5726:Fmo4	UTSW	1	162,635,828 (GRCm39)	critical splice donor site	probably null
R5786:Fmo4	UTSW	1	162,631,286 (GRCm39)	missense	probably benign	0.00
R6391:Fmo4	UTSW	1	162,621,538 (GRCm39)	nonsense	probably null
R6826:Fmo4	UTSW	1	162,631,338 (GRCm39)	missense	probably damaging	1.00
R7457:Fmo4	UTSW	1	162,621,672 (GRCm39)	missense	probably benign	0.00
R7913:Fmo4	UTSW	1	162,621,741 (GRCm39)	missense	possibly damaging	0.69
R8031:Fmo4	UTSW	1	162,626,421 (GRCm39)	nonsense	probably null
R8055:Fmo4	UTSW	1	162,636,015 (GRCm39)	missense	probably benign
R8234:Fmo4	UTSW	1	162,632,757 (GRCm39)	missense	probably damaging	1.00
R8346:Fmo4	UTSW	1	162,621,792 (GRCm39)	missense	probably benign	0.01
R8706:Fmo4	UTSW	1	162,621,592 (GRCm39)	nonsense	probably null
R9050:Fmo4	UTSW	1	162,635,099 (GRCm39)	missense	probably benign	0.15
R9467:Fmo4	UTSW	1	162,631,238 (GRCm39)	missense	probably benign
R9488:Fmo4	UTSW	1	162,631,337 (GRCm39)	missense	probably damaging	1.00
R9633:Fmo4	UTSW	1	162,631,191 (GRCm39)	missense	probably benign	0.00
X0020:Fmo4	UTSW	1	162,621,947 (GRCm39)	missense	probably benign	0.02
Z1177:Fmo4	UTSW	1	162,631,289 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACATGCACATATAGAACTCCACTG -3'
(R):5'- TGCCAGACCAACATATTATAGCTAC -3'

Sequencing Primer
(F):5'- GTACCCTTTTGCAATGCTTA -3'
(R):5'- CATATGGTCACACACAAGTCTATG -3'

Posted On

2014-08-01