Mutagenetix > Incidental Mutation

Incidental Mutation 'R2011:Fmo4'

219601

Institutional Source

Beutler Lab

Gene Symbol

Fmo4

Ensembl Gene

ENSMUSG00000026692

Gene Name

flavin containing monooxygenase 4

Synonyms

MMRRC Submission

040020-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2011 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

162620757-162641541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162626458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 363 (T363A)

Ref Sequence

ENSEMBL: ENSMUSP00000107150 (fasta)

Gene Model

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

AlphaFold

Q8VHG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000028014
AA Change: T363A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028014
Gene: ENSMUSG00000026692
AA Change: T363A

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: T363A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107150
Gene: ENSMUSG00000026692
AA Change: T363A

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

noncoding transcript
Transcript: ENSMUST00000193508

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	A	T	14: 8,042,742 (GRCm38)	T100S	probably benign	Het
Adam6a	T	C	12: 113,508,998 (GRCm39)	I457T	probably benign	Het
Aff3	T	C	1: 38,246,996 (GRCm39)	N863S	probably benign	Het
Agk	C	A	6: 40,353,168 (GRCm39)	D177E	probably benign	Het
Alg9	C	T	9: 50,699,500 (GRCm39)	A209V	probably damaging	Het
Arl6	A	T	16: 59,444,676 (GRCm39)	I51K	probably damaging	Het
Bpi	A	T	2: 158,103,272 (GRCm39)	H89L	probably damaging	Het
C1qtnf1	T	A	11: 118,339,110 (GRCm39)	F260Y	probably benign	Het
Cblc	T	A	7: 19,518,747 (GRCm39)	D452V	probably benign	Het
Ccar1	T	C	10: 62,612,473 (GRCm39)	T231A	probably benign	Het
Ccdc112	A	G	18: 46,420,499 (GRCm39)	L417P	probably damaging	Het
Ccdc34	G	A	2: 109,874,649 (GRCm39)	R336Q	possibly damaging	Het
CK137956	A	G	4: 127,844,829 (GRCm39)	S305P	probably benign	Het
Clip2	T	C	5: 134,531,969 (GRCm39)	D612G	probably damaging	Het
Col28a1	T	C	6: 8,059,360 (GRCm39)	T692A	probably benign	Het
Copg2	A	T	6: 30,793,676 (GRCm39)		probably null	Het
Ctnna2	T	A	6: 76,950,774 (GRCm39)	I566F	possibly damaging	Het
Cux2	C	T	5: 121,999,389 (GRCm39)	D1184N	probably benign	Het
Dclk3	A	G	9: 111,297,422 (GRCm39)	E322G	probably benign	Het
Ddx41	A	T	13: 55,681,906 (GRCm39)		probably null	Het
Dnaaf2	G	A	12: 69,243,559 (GRCm39)	P107S	probably damaging	Het
Eif2ak4	A	G	2: 118,261,428 (GRCm39)	E578G	probably damaging	Het
Exd1	A	G	2: 119,359,144 (GRCm39)		probably benign	Het
Fat2	G	A	11: 55,173,583 (GRCm39)	P2377S	probably damaging	Het
Fbxl18	T	C	5: 142,858,214 (GRCm39)	T741A	probably benign	Het
Fgr	C	A	4: 132,724,832 (GRCm39)	A311E	probably damaging	Het
Fsbp	T	C	4: 11,584,006 (GRCm39)	V235A	probably benign	Het
Gm1110	T	A	9: 26,805,554 (GRCm39)	H366L	probably benign	Het
Gm43302	T	C	5: 105,438,846 (GRCm39)	N14S	probably damaging	Het
Gm5422	A	G	10: 31,124,764 (GRCm39)		noncoding transcript	Het
Gm57858	A	T	3: 36,064,827 (GRCm39)	C515*	probably null	Het
Gpr21	A	G	2: 37,407,547 (GRCm39)	E31G	probably damaging	Het
Gucy1b2	G	T	14: 62,646,207 (GRCm39)	N560K	probably damaging	Het
Hmcn1	T	C	1: 150,553,085 (GRCm39)	Q2535R	probably benign	Het
Hnrnpm	A	T	17: 33,883,598 (GRCm39)	N264K	probably damaging	Het
Hyal6	A	T	6: 24,734,723 (GRCm39)	I219L	possibly damaging	Het
Ifi211	A	G	1: 173,735,169 (GRCm39)	S87P	probably damaging	Het
Il17rb	A	T	14: 29,718,797 (GRCm39)	C428*	probably null	Het
Iqca1	T	C	1: 89,973,348 (GRCm39)	N808S	probably benign	Het
Kcnu1	A	G	8: 26,408,470 (GRCm39)	I94V	probably benign	Het
Lrba	A	T	3: 86,217,324 (GRCm39)	E517V	probably damaging	Het
Mcidas	A	G	13: 113,130,515 (GRCm39)	E37G	possibly damaging	Het
Med23	T	A	10: 24,755,653 (GRCm39)	F83L	possibly damaging	Het
Micu2	T	C	14: 58,191,590 (GRCm39)		probably null	Het
Mrgprx2	A	T	7: 48,132,282 (GRCm39)	C179S	probably damaging	Het
Myo6	A	G	9: 80,215,004 (GRCm39)	T1236A	probably damaging	Het
Myo7a	A	T	7: 97,703,915 (GRCm39)	V1946E	possibly damaging	Het
Nek10	A	T	14: 14,885,122 (GRCm38)	Y695F	probably damaging	Het
Nr3c2	A	T	8: 77,636,422 (GRCm39)	I508F	possibly damaging	Het
Or11g27	T	C	14: 50,771,141 (GRCm39)	S91P	probably damaging	Het
Or14a260	A	T	7: 85,984,955 (GRCm39)	Y216*	probably null	Het
Or2ag13	T	C	7: 106,472,634 (GRCm39)	I273V	probably benign	Het
Or5w1b	A	T	2: 87,476,233 (GRCm39)	I78N	probably damaging	Het
Or8k23	A	T	2: 86,186,530 (GRCm39)	H65Q	possibly damaging	Het
Or9s13	T	C	1: 92,548,471 (GRCm39)	V281A	probably benign	Het
Oxct1	T	C	15: 4,183,243 (GRCm39)	S485P	probably benign	Het
Oxt	A	G	2: 130,418,572 (GRCm39)	D61G	probably damaging	Het
P2ry10	A	C	X: 106,146,241 (GRCm39)	I59L	probably damaging	Het
Parp11	A	G	6: 127,454,854 (GRCm39)	N124S	probably benign	Het
Pcdh7	T	A	5: 57,876,971 (GRCm39)	N175K	probably damaging	Het
Pdgfrb	T	A	18: 61,194,566 (GRCm39)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,234,956 (GRCm39)	N54S	possibly damaging	Het
Phc2	T	A	4: 128,617,378 (GRCm39)	V468E	probably benign	Het
Piezo2	T	C	18: 63,192,815 (GRCm39)	T1605A	probably damaging	Het
Pik3cb	A	T	9: 98,987,632 (GRCm39)	Y35*	probably null	Het
Piwil2	A	T	14: 70,664,083 (GRCm39)	M22K	probably damaging	Het
Plag1	A	G	4: 3,904,889 (GRCm39)	F101L	probably damaging	Het
Pomt2	A	G	12: 87,158,173 (GRCm39)	L680P	possibly damaging	Het
Ppp1r36	A	G	12: 76,465,700 (GRCm39)		probably null	Het
Prkag2	C	T	5: 25,076,052 (GRCm39)		probably null	Het
Prkg1	T	C	19: 31,641,542 (GRCm39)	D47G	possibly damaging	Het
Prl6a1	G	A	13: 27,499,352 (GRCm39)	G45D	probably benign	Het
Rbm20	G	A	19: 53,847,859 (GRCm39)	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,787,923 (GRCm39)	N465K	probably benign	Het
Rlig1	T	G	10: 100,419,820 (GRCm39)	D58A	probably damaging	Het
Rtcb	A	T	10: 85,777,797 (GRCm39)	I459N	probably damaging	Het
Rtp3	A	T	9: 110,815,102 (GRCm39)		probably benign	Het
Rundc3b	T	A	5: 8,562,409 (GRCm39)		probably null	Het
Scube3	A	G	17: 28,387,132 (GRCm39)	T877A	probably damaging	Het
Sh2d4a	A	T	8: 68,799,394 (GRCm39)	Q421L	probably benign	Het
Siglec1	A	T	2: 130,925,277 (GRCm39)	Y395N	probably damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slco1c1	T	A	6: 141,500,833 (GRCm39)	F437L	probably benign	Het
Slco3a1	G	A	7: 73,996,419 (GRCm39)	A329V	probably benign	Het
Spag9	T	A	11: 93,983,201 (GRCm39)	L504*	probably null	Het
Spen	A	T	4: 141,200,640 (GRCm39)	N2662K	probably damaging	Het
Sptb	G	C	12: 76,679,246 (GRCm39)	R70G	possibly damaging	Het
Stk3	A	G	15: 35,072,644 (GRCm39)	S136P	probably damaging	Het
Synj1	A	T	16: 90,735,584 (GRCm39)	F1456L	probably damaging	Het
Tbx5	T	C	5: 119,979,971 (GRCm39)		probably null	Het
Tchh	G	A	3: 93,354,268 (GRCm39)	R1236Q	unknown	Het
Timd4	C	A	11: 46,710,857 (GRCm39)	T253K	possibly damaging	Het
Tmc6	A	G	11: 117,660,232 (GRCm39)	Y669H	probably damaging	Het
Tmem151a	C	T	19: 5,132,966 (GRCm39)	R80H	probably benign	Het
Tpgs1	T	C	10: 79,511,722 (GRCm39)	L288P	probably damaging	Het
Trhde	T	C	10: 114,334,698 (GRCm39)	I659V	probably benign	Het
Trpm7	A	T	2: 126,665,917 (GRCm39)	Y896*	probably null	Het
Ttc5	C	A	14: 51,019,007 (GRCm39)	E37*	probably null	Het
Uvrag	A	G	7: 98,589,096 (GRCm39)		probably null	Het
Vmn1r59	T	A	7: 5,457,283 (GRCm39)	D159V	probably damaging	Het
Vmn2r78	G	A	7: 86,604,287 (GRCm39)	V822M	possibly damaging	Het
Vnn1	C	A	10: 23,770,869 (GRCm39)	Y32*	probably null	Het
Wrn	A	G	8: 33,726,432 (GRCm39)	V1380A	probably benign	Het
Zc3h14	A	C	12: 98,746,527 (GRCm39)	S579R	possibly damaging	Het
Zfp277	G	A	12: 40,367,217 (GRCm39)	Q480*	probably null	Het
Zfp456	G	A	13: 67,514,993 (GRCm39)	Q238*	probably null	Het
Zranb3	T	A	1: 128,019,638 (GRCm39)	T35S	probably benign	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
R1958:Fmo4	UTSW	1	162,631,259 (GRCm39)	missense	probably benign	0.01
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'- AGCTCATGTCTGTTTGACTTTACG -3'
(R):5'- ACCAACCTGTATACTTTGTGGG -3'

Sequencing Primer
(F):5'- TGACTTTACGAAAATGGCAGC -3'
(R):5'- CCAGCGTGAAGGATTTTACAGAATC -3'

Posted On

2014-08-25