Mutagenetix > Incidental Mutation

Incidental Mutation 'R2568:Fmo1'

254602

Institutional Source

Beutler Lab

Gene Symbol

Fmo1

Ensembl Gene

ENSMUSG00000040181

Gene Name

flavin containing monooxygenase 1

Synonyms

MMRRC Submission

040427-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R2568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

162829561-162866610 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 162836259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 234 (I234L)

Ref Sequence

ENSEMBL: ENSMUSP00000117398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046049] [ENSMUST00000111518] [ENSMUST00000131058] [ENSMUST00000134098] [ENSMUST00000193078]

AlphaFold

P50285

Predicted Effect

probably benign
Transcript: ENSMUST00000046049
AA Change: I234L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000037259
Gene: ENSMUSG00000040181
AA Change: I234L

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: ENSMUST00000111518

SMART Domains

Protein: ENSMUSP00000107143
Gene: ENSMUSG00000040181

Domain	Start	End	E-Value	Type
Pfam:FMO-like	2	170	4.6e-93	PFAM
Pfam:Pyr_redox_3	6	173	2.7e-8	PFAM
Pfam:NAD_binding_8	7	65	5.5e-8	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: I234L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117398
Gene: ENSMUSG00000040181
AA Change: I234L

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

noncoding transcript
Transcript: ENSMUST00000143902

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193766

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,201,269	V1010A	possibly damaging	Het
4930563D23Rik	A	G	16: 92,321,319	L27P	probably damaging	Het
A730071L15Rik	A	T	11: 6,200,161		probably benign	Het
Abca13	A	T	11: 9,333,310	N3244I	probably benign	Het
Adgrf5	A	G	17: 43,437,671	T219A	probably damaging	Het
Adgrg5	A	T	8: 94,934,021	N92I	probably damaging	Het
Agt	A	C	8: 124,556,955	V475G	probably damaging	Het
Akap6	A	G	12: 52,887,278	K518E	possibly damaging	Het
Apoh	T	G	11: 108,404,871	D133E	probably benign	Het
Axdnd1	T	A	1: 156,392,749	M234L	possibly damaging	Het
Cacna1d	A	G	14: 30,082,511	I1335T	probably damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Cfap206	T	A	4: 34,711,566	K444*	probably null	Het
Clasp2	A	G	9: 113,878,764	I614M	probably benign	Het
Col6a4	A	T	9: 106,063,076	D1218E	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
D130043K22Rik	C	T	13: 24,883,891	T870M	probably damaging	Het
Dagla	C	A	19: 10,248,152	A883S	probably benign	Het
Dhx30	A	G	9: 110,097,195	V87A	probably damaging	Het
Dtx1	C	A	5: 120,710,184	V44L	possibly damaging	Het
Ecm2	T	A	13: 49,530,129	S528T	possibly damaging	Het
Egfem1	A	T	3: 29,582,931	N172I	probably damaging	Het
Fam102b	T	A	3: 108,978,848	N356I	probably benign	Het
Fam13a	T	G	6: 58,935,609	R686S	probably damaging	Het
Foxj2	C	T	6: 122,828,372	R68W	probably damaging	Het
Foxo6	A	T	4: 120,268,764	M278K	probably benign	Het
Fsip2	A	G	2: 82,990,431	S5503G	probably benign	Het
Gdf5	C	G	2: 155,942,090	R100G	probably benign	Het
Il1b	A	T	2: 129,367,322	D129E	probably damaging	Het
Klhl29	A	G	12: 5,091,350	S545P	probably damaging	Het
Krt83	G	T	15: 101,487,827	R296S	possibly damaging	Het
Llgl1	T	G	11: 60,708,812	S509R	probably damaging	Het
Lmod1	A	T	1: 135,363,964	K186*	probably null	Het
Lrpprc	C	T	17: 84,726,649	A973T	probably damaging	Het
Marco	T	C	1: 120,494,785	H49R	possibly damaging	Het
Mylk4	T	C	13: 32,722,018	N394S	probably null	Het
Myo5a	A	G	9: 75,123,040	Y147C	probably damaging	Het
Myo5a	T	C	9: 75,151,897	V469A	probably damaging	Het
Myot	A	G	18: 44,337,216	T87A	probably benign	Het
Nav2	A	G	7: 49,597,564	H2154R	probably damaging	Het
Nek10	A	G	14: 14,999,112	E1037G	possibly damaging	Het
Olfr181	A	G	16: 58,925,923	V216A	probably benign	Het
Olfr341	T	C	2: 36,479,974	D52G	probably damaging	Het
Olfr677	A	G	7: 105,056,671	T142A	probably benign	Het
Pitrm1	G	T	13: 6,575,092	V869F	probably benign	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781		probably benign	Het
Prdx1	T	G	4: 116,693,800	I156S	probably benign	Het
Rbks	T	A	5: 31,665,752	T107S	probably damaging	Het
Ryr3	G	A	2: 112,675,874	R3468W	probably damaging	Het
Scn1a	C	T	2: 66,273,469	D1805N	probably damaging	Het
Sirpa	T	C	2: 129,615,648	V214A	probably benign	Het
Slc35c1	T	C	2: 92,458,880	N94D	probably benign	Het
Sorbs2	A	T	8: 45,795,370	K553*	probably null	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Thg1l	A	G	11: 45,951,565	V142A	probably benign	Het
Tiparp	T	A	3: 65,553,130	Y513*	probably null	Het
Tmc6	A	G	11: 117,772,820	V522A	probably benign	Het
Trim39	T	A	17: 36,269,164		probably benign	Het
Trrap	G	A	5: 144,843,369		probably null	Het
Tulp3	C	T	6: 128,327,638	V218I	probably benign	Het
Vmn1r38	T	A	6: 66,776,971	I54F	probably benign	Het
Vmn2r23	T	A	6: 123,742,188	Y833*	probably null	Het
Zfp810	A	T	9: 22,279,238	S125T	probably benign	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
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
R7692:Fmo1	UTSW	1	162833833	missense	probably benign	0.16
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'- TTTGCAGGTGCTATCGGAAAGG -3'
(R):5'- GCCCACGGTGTTTTAATACTC -3'

Sequencing Primer
(F):5'- GCTATCGGAAAGGTTAAGACTCCTTC -3'
(R):5'- CCACGGTGTTTTAATACTCTGTATAC -3'

Posted On

2014-12-04