Mutagenetix > Incidental Mutation

Incidental Mutation 'R7692:Fmo1'

593430

Institutional Source

Beutler Lab

Gene Symbol

Fmo1

Ensembl Gene

ENSMUSG00000040181

Gene Name

flavin containing monooxygenase 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7692 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

162829561-162866610 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 162833833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 294 (T294S)

Ref Sequence

ENSEMBL: ENSMUSP00000037259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046049] [ENSMUST00000131058] [ENSMUST00000134098] [ENSMUST00000193078]

AlphaFold

P50285

Predicted Effect

probably benign
Transcript: ENSMUST00000046049
AA Change: T294S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037259
Gene: ENSMUSG00000040181
AA Change: T294S

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	532	1.5e-279	PFAM
Pfam:Pyr_redox_2	3	228	3.8e-13	PFAM
Pfam:NAD_binding_8	7	63	8e-7	PFAM
Pfam:K_oxygenase	73	226	3.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131058

SMART Domains

Protein: ENSMUSP00000118534
Gene: ENSMUSG00000040181

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	209	9.3e-122	PFAM
Pfam:Pyr_redox_2	4	208	8.2e-9	PFAM
Pfam:Pyr_redox_3	6	209	7.5e-16	PFAM
Pfam:NAD_binding_8	7	65	5.2e-8	PFAM
Pfam:K_oxygenase	72	209	1.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134098
AA Change: T294S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117398
Gene: ENSMUSG00000040181
AA Change: T294S

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	303	1.4e-168	PFAM
Pfam:Pyr_redox_2	4	280	8e-9	PFAM
Pfam:Pyr_redox_3	6	220	5.5e-16	PFAM
Pfam:NAD_binding_8	7	65	9.5e-8	PFAM
Pfam:K_oxygenase	72	224	2.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193078

SMART Domains

Protein: ENSMUSP00000141210
Gene: ENSMUSG00000040181

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	230	9.4e-132	PFAM
Pfam:Pyr_redox_2	4	223	4.9e-7	PFAM
Pfam:Pyr_redox_3	6	220	3.1e-14	PFAM
Pfam:NAD_binding_8	7	65	6.9e-6	PFAM
Pfam:K_oxygenase	72	222	3.8e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	G	A	8: 43,520,795	T390I	probably benign	Het
Adgb	A	G	10: 10,411,712		probably null	Het
Ado	G	T	10: 67,548,435	Y113*	probably null	Het
Angptl1	A	G	1: 156,845,315	E237G	probably damaging	Het
Arid2	T	A	15: 96,356,697	Y141*	probably null	Het
Clvs1	T	C	4: 9,350,739	I183T	probably benign	Het
Dnah1	T	C	14: 31,292,338	K1817E	probably benign	Het
Eif3e	C	A	15: 43,263,246	R271L	probably damaging	Het
Eml6	A	G	11: 29,753,085	V1611A	probably damaging	Het
Enpp3	G	T	10: 24,784,841	Y634*	probably null	Het
Evi5l	C	T	8: 4,200,886	R394W	probably damaging	Het
Fcgr3	A	C	1: 171,054,092	F156V	probably damaging	Het
Gabrb3	A	G	7: 57,816,455	Q339R	probably damaging	Het
Gen1	T	A	12: 11,242,166	T606S	probably benign	Het
Gfod1	T	C	13: 43,201,052	Q149R	probably benign	Het
Golm1	A	G	13: 59,640,257	V276A	probably benign	Het
Hc	C	A	2: 35,024,149	V849F	probably damaging	Het
Hectd4	T	C	5: 121,321,564	I832T	possibly damaging	Het
Hspa14	T	C	2: 3,496,606	D283G	probably damaging	Het
Lztfl1	C	T	9: 123,712,471	W94*	probably null	Het
Lzts3	T	C	2: 130,635,386	S381G	probably benign	Het
Mgat2	A	G	12: 69,184,670	Y6C	probably damaging	Het
Mrpl30	T	C	1: 37,895,358	I27T	probably benign	Het
Muc5b	A	T	7: 141,853,229	T1045S	unknown	Het
Nlrp4a	G	A	7: 26,449,265	R99Q	probably benign	Het
Olfr1450	A	G	19: 12,953,642	T18A	possibly damaging	Het
Olfr1510	T	C	14: 52,410,488	Y128C	probably damaging	Het
Phlpp1	T	C	1: 106,281,402	L495P	probably damaging	Het
Pla2g4d	T	C	2: 120,279,295	D178G	possibly damaging	Het
Prl5a1	C	G	13: 28,150,014	L167V	probably damaging	Het
Sardh	A	G	2: 27,197,639	V740A	probably benign	Het
Sbno1	T	G	5: 124,405,646	T277P	probably benign	Het
Slc2a1	T	C	4: 119,136,265	V433A	probably damaging	Het
Slc4a10	T	C	2: 62,303,964	V1008A	possibly damaging	Het
Smarcal1	T	G	1: 72,586,020	S109A	probably benign	Het
Speg	A	G	1: 75,401,190	D864G	probably benign	Het
Steap4	T	C	5: 7,976,976	I313T	probably benign	Het
Tab2	A	T	10: 7,911,105	D614E	probably damaging	Het
Tenm4	A	G	7: 96,895,403	K2246E	probably damaging	Het
Timm23	A	G	14: 32,180,563	S208P	probably damaging	Het
Tmem229a	C	A	6: 24,955,212	C181F	probably benign	Het
Ugdh	T	C	5: 65,417,615	Y356C	probably damaging	Het
Ugt2a1	A	G	5: 87,486,727	L7P	probably damaging	Het
Uhrf1	A	G	17: 56,312,905	D272G	possibly damaging	Het
Vmn1r206	T	A	13: 22,620,657	I127F	probably damaging	Het
Vmn2r106	T	C	17: 20,285,228	Y68C	possibly damaging	Het
Zfand6	G	A	7: 84,633,933	P72L	not run	Het

Other mutations in Fmo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Fmo1	APN	1	162836246	missense	probably damaging	1.00
IGL00479:Fmo1	APN	1	162830063	missense	probably benign	0.00
IGL01612:Fmo1	APN	1	162833599	missense	probably benign	0.42
IGL01650:Fmo1	APN	1	162833584	missense	probably benign	0.04
IGL02052:Fmo1	APN	1	162850060	critical splice donor site	probably null
IGL02340:Fmo1	APN	1	162832990	missense	probably benign	0.02
IGL03348:Fmo1	APN	1	162850151	missense	possibly damaging	0.76
IGL03388:Fmo1	APN	1	162836147	missense	probably benign	0.17
PIT1430001:Fmo1	UTSW	1	162830053	missense	probably benign	0.00
R0279:Fmo1	UTSW	1	162830272	missense	possibly damaging	0.92
R0314:Fmo1	UTSW	1	162859462	missense	probably damaging	1.00
R0348:Fmo1	UTSW	1	162836135	missense	probably benign	0.00
R0385:Fmo1	UTSW	1	162836204	missense	possibly damaging	0.94
R0699:Fmo1	UTSW	1	162833772	missense	probably benign	0.00
R1413:Fmo1	UTSW	1	162833862	missense	probably damaging	0.98
R1424:Fmo1	UTSW	1	162830066	missense	probably damaging	1.00
R1430:Fmo1	UTSW	1	162839724	missense	probably damaging	1.00
R1851:Fmo1	UTSW	1	162829985	nonsense	probably null
R1929:Fmo1	UTSW	1	162833855	missense	probably damaging	1.00
R1982:Fmo1	UTSW	1	162839756	missense	possibly damaging	0.83
R2272:Fmo1	UTSW	1	162833855	missense	probably damaging	1.00
R2568:Fmo1	UTSW	1	162836259	missense	probably benign	0.00
R3787:Fmo1	UTSW	1	162830014	missense	possibly damaging	0.54
R3825:Fmo1	UTSW	1	162851347	splice site	probably benign
R3904:Fmo1	UTSW	1	162833768	missense	possibly damaging	0.54
R4320:Fmo1	UTSW	1	162833631	missense	probably damaging	1.00
R4367:Fmo1	UTSW	1	162833648	nonsense	probably null
R4431:Fmo1	UTSW	1	162833712	missense	possibly damaging	0.76
R4473:Fmo1	UTSW	1	162850163	missense	possibly damaging	0.90
R5340:Fmo1	UTSW	1	162829982	missense	probably benign	0.39
R5354:Fmo1	UTSW	1	162830145	missense	probably benign	0.01
R5479:Fmo1	UTSW	1	162850224	missense	probably damaging	0.99
R5930:Fmo1	UTSW	1	162839616	critical splice donor site	probably null
R6148:Fmo1	UTSW	1	162851519	missense	probably damaging	0.99
R6160:Fmo1	UTSW	1	162836298	missense	probably benign	0.00
R6164:Fmo1	UTSW	1	162851410	missense	probably benign	0.24
R6263:Fmo1	UTSW	1	162850060	critical splice donor site	probably null
R7046:Fmo1	UTSW	1	162839694	missense	possibly damaging	0.92
R7590:Fmo1	UTSW	1	162859682	intron	probably benign
R7663:Fmo1	UTSW	1	162836297	missense	possibly damaging	0.74
R7712:Fmo1	UTSW	1	162836135	missense	probably benign	0.00
R8207:Fmo1	UTSW	1	162850107	missense	probably benign	0.28
R8895:Fmo1	UTSW	1	162830258	missense	probably benign	0.01
R8917:Fmo1	UTSW	1	162836204	missense	probably benign	0.03
R9583:Fmo1	UTSW	1	162859427	missense
R9620:Fmo1	UTSW	1	162833821	missense	probably benign
X0022:Fmo1	UTSW	1	162830000	missense	possibly damaging	0.57
X0066:Fmo1	UTSW	1	162839704	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGTACAGTGATGCCTGGCC -3'
(R):5'- GCTTAGTAACTGTGCAGGAGCTC -3'

Sequencing Primer
(F):5'- AGTGATGCCTGGCCATCCTC -3'
(R):5'- TGCAGGAGCTCTTTGATAAGCAC -3'

Posted On

2019-11-12