Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Fmo4'

54370

Institutional Source

Beutler Lab

Gene Symbol

Fmo4

Ensembl Gene

ENSMUSG00000026692

Gene Name

flavin containing monooxygenase 4

Synonyms

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R0608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

162793188-162813972 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 162803651 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 249 (R249H)

Ref Sequence

ENSEMBL: ENSMUSP00000107150 (fasta)

Gene Model

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

AlphaFold

Q8VHG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028014
AA Change: R249H

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028014
Gene: ENSMUSG00000026692
AA Change: R249H

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

possibly damaging
Transcript: ENSMUST00000111525
AA Change: R249H

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107150
Gene: ENSMUSG00000026692
AA Change: R249H

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: 99.0%
10x: 97.7%
20x: 95.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ampd3	C	A	7: 110,795,790	D315E	probably damaging	Het
Ampd3	T	A	7: 110,795,791	F316I	probably damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,501,416		probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Bckdhb	T	G	9: 83,953,736	F98V	probably damaging	Het
Calhm1	C	T	19: 47,143,841	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,224,951	R90C	probably damaging	Het
Cdc40	A	T	10: 40,848,052	Y247N	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cep128	T	G	12: 90,999,535		probably benign	Het
Cep72	A	T	13: 74,038,304	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,218,715		probably benign	Het
Cysltr1	A	G	X: 106,578,655	V75A	possibly damaging	Het
Dnah17	G	T	11: 118,090,749	Y1716*	probably null	Het
Dnm1	T	C	2: 32,335,824	E383G	possibly damaging	Het
Dst	C	A	1: 34,290,356		probably null	Het
Edil3	T	C	13: 89,184,849	S375P	probably damaging	Het
Eme1	A	G	11: 94,650,082	C277R	probably damaging	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,536,753	V341M	probably benign	Het
Fgf14	A	G	14: 124,676,603	S39P	probably damaging	Het
Gle1	T	A	2: 29,940,228	D265E	probably benign	Het
Gml2	T	C	15: 74,821,386		probably null	Het
Golgb1	G	T	16: 36,916,330	E1980*	probably null	Het
Hap1	A	G	11: 100,349,305	L555P	probably damaging	Het
Heca	T	C	10: 17,915,291	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479	T101A	possibly damaging	Het
Ift88	T	C	14: 57,496,221	V707A	probably benign	Het
Kdm3a	C	T	6: 71,620,046	G252D	probably benign	Het
Klhl11	A	G	11: 100,472,242	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,786,074	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,486,243	N2131K	probably benign	Het
Lrrc6	T	A	15: 66,380,474	M448L	probably benign	Het
Magi3	C	G	3: 104,017,557	G1092A	probably damaging	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrps26	G	T	2: 130,563,858	R27L	possibly damaging	Het
Myof	T	C	19: 37,916,504	D1624G	probably damaging	Het
Naif1	T	C	2: 32,454,896	M204T	probably benign	Het
Ndufb8	T	C	19: 44,550,345	E179G	possibly damaging	Het
Neb	A	T	2: 52,326,757	D135E	probably benign	Het
Nlrp6	C	T	7: 140,923,486	Q502*	probably null	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr463	G	A	11: 87,893,196	H243Y	probably damaging	Het
Parp4	T	A	14: 56,602,404	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196	Y328*	probably null	Het
Pnpla8	C	T	12: 44,283,463	P48L	probably benign	Het
Rab44	T	A	17: 29,147,343		probably null	Het
Ranbp2	T	C	10: 58,493,898	I3031T	probably damaging	Het
Rnf219	T	C	14: 104,479,527	Y470C	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Serpinh1	A	G	7: 99,349,394	C10R	unknown	Het
Sh2d4a	A	G	8: 68,346,694	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spire1	T	C	18: 67,528,875	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,632,559	D49E	probably damaging	Het
Susd2	C	T	10: 75,638,235	A509T	probably benign	Het
Sycp2	A	G	2: 178,382,404	F396L	probably damaging	Het
Syne2	T	C	12: 75,963,813	L2499P	probably damaging	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Sytl4	A	T	X: 133,962,187	D16E	probably benign	Het
Tab2	C	T	10: 7,920,119	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,211,499	T363A	probably damaging	Het
Terb2	A	G	2: 122,186,335	D16G	probably benign	Het
Tm2d2	A	G	8: 25,020,536	E137G	probably benign	Het
Trim30d	T	A	7: 104,472,485	H201L	probably damaging	Het
Tspan3	A	G	9: 56,147,385		probably null	Het
Ttn	A	T	2: 76,787,323	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,796,185		probably null	Het
Ubap2	T	A	4: 41,218,319	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,996,126	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,746,634	E615G	probably damaging	Het
Zfp655	T	A	5: 145,244,057	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,648,281	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,787,158		probably null	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
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
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'- TGCTACATGCACATATAGAACTCCACTGATAA -3'
(R):5'- AAACTACCAGACCAGAGCctgaaga -3'

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

Posted On

2013-07-11