Mutagenetix > Incidental Mutation

Incidental Mutation 'R8895:Fmo1'

677929

Institutional Source

Beutler Lab

Gene Symbol

Fmo1

Ensembl Gene

ENSMUSG00000040181

Gene Name

flavin containing monooxygenase 1

Synonyms

MMRRC Submission

068754-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R8895 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

162657130-162694179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162657827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 438 (D438G)

Ref Sequence

ENSEMBL: ENSMUSP00000037259 (fasta)

Gene Model

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

AlphaFold

P50285

Predicted Effect

probably benign
Transcript: ENSMUST00000046049
AA Change: D438G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000037259
Gene: ENSMUSG00000040181
AA Change: D438G

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: ENSMUST00000134098

SMART Domains

Protein: ENSMUSP00000117398
Gene: ENSMUSG00000040181

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (74/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	A	X: 69,437,994 (GRCm39)	R100W	possibly damaging	Het
Adamts10	G	A	17: 33,768,270 (GRCm39)	R814H	probably damaging	Het
Akr1a1	A	G	4: 116,498,260 (GRCm39)	L95P	probably damaging	Het
Amigo2	G	T	15: 97,143,389 (GRCm39)	N344K	probably damaging	Het
Ankrd11	T	C	8: 123,621,014 (GRCm39)	D946G	possibly damaging	Het
Arb2a	T	A	13: 78,147,773 (GRCm39)	N280K	probably damaging	Het
Btnl6	T	G	17: 34,734,391 (GRCm39)	I124L	probably benign	Het
Bzw2	A	T	12: 36,173,982 (GRCm39)	C97*	probably null	Het
Celsr2	G	A	3: 108,320,880 (GRCm39)	T644I	possibly damaging	Het
Cep85l	A	T	10: 53,224,911 (GRCm39)	L226Q	possibly damaging	Het
Ces1g	T	C	8: 94,046,512 (GRCm39)	K338E	possibly damaging	Het
Cldn10	G	A	14: 119,092,507 (GRCm39)	D36N	probably damaging	Het
Cntnap4	T	A	8: 113,479,598 (GRCm39)	I261N	probably benign	Het
Csnk1g1	T	C	9: 65,915,109 (GRCm39)		probably null	Het
Cyp2c69	T	C	19: 39,869,910 (GRCm39)	D104G	possibly damaging	Het
Cyp3a11	T	C	5: 145,797,330 (GRCm39)	T350A	probably benign	Het
Daw1	T	A	1: 83,187,011 (GRCm39)	C274S	probably damaging	Het
Dmtn	T	C	14: 70,850,144 (GRCm39)	T267A	probably benign	Het
Dock5	A	G	14: 68,055,112 (GRCm39)	Y585H	possibly damaging	Het
Dsg2	T	G	18: 20,723,126 (GRCm39)	V384G	probably damaging	Het
Elmo1	C	T	13: 20,748,630 (GRCm39)	L492F	probably damaging	Het
Folr2	C	T	7: 101,489,408 (GRCm39)	V244M	unknown	Het
Galnt18	T	C	7: 111,378,709 (GRCm39)	I16V	possibly damaging	Het
Gm10036	C	A	18: 15,966,207 (GRCm39)	Y119*	probably null	Het
Gria4	A	G	9: 4,664,951 (GRCm39)	S102P	probably damaging	Het
Hc	A	T	2: 34,890,861 (GRCm39)	N1318K	probably benign	Het
Ifitm1	T	C	7: 140,549,499 (GRCm39)	L94P	probably damaging	Het
Iqca1l	T	C	5: 24,755,628 (GRCm39)	D298G	probably benign	Het
Itga9	G	A	9: 118,510,835 (GRCm39)	V455M	probably damaging	Het
Kank4	C	T	4: 98,653,747 (GRCm39)	V894I	possibly damaging	Het
Kcnip2	T	A	19: 45,785,100 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,352,953 (GRCm39)	T885A	possibly damaging	Het
Lamp5	A	G	2: 135,902,874 (GRCm39)	T198A	probably benign	Het
Ldc1	T	C	4: 130,105,223 (GRCm39)	K316E	probably benign	Het
Lipi	A	T	16: 75,352,710 (GRCm39)	L376I	probably benign	Het
Lrrc37	T	A	11: 103,509,656 (GRCm39)	T771S	unknown	Het
Luc7l	T	C	17: 26,472,978 (GRCm39)	I31T	possibly damaging	Het
Malrd1	A	T	2: 15,850,038 (GRCm39)	N1219I	unknown	Het
Mcf2l	C	T	8: 13,034,330 (GRCm39)		probably benign	Het
Mrc1	A	C	2: 14,312,760 (GRCm39)	N894T	probably damaging	Het
Mrpl35	C	T	6: 71,793,271 (GRCm39)	A127T	possibly damaging	Het
Myom2	T	A	8: 15,152,589 (GRCm39)	Y645*	probably null	Het
Naip2	T	C	13: 100,325,644 (GRCm39)	H88R	probably benign	Het
Noc3l	T	A	19: 38,798,751 (GRCm39)	K282N	probably damaging	Het
Nwd2	T	C	5: 63,963,241 (GRCm39)	Y942H	probably damaging	Het
Or10ag2	T	C	2: 87,248,659 (GRCm39)	V87A	probably benign	Het
Or52d1	T	A	7: 103,756,302 (GRCm39)	I272N	probably damaging	Het
Osbpl9	C	A	4: 108,930,333 (GRCm39)	A221S	probably benign	Het
Paip1	T	C	13: 119,566,801 (GRCm39)	L45S	probably benign	Het
Peak1	T	C	9: 56,113,938 (GRCm39)	T1668A	probably benign	Het
Pgap3	A	G	11: 98,281,602 (GRCm39)	F199L	possibly damaging	Het
Ppip5k2	T	C	1: 97,639,544 (GRCm39)	M1061V	probably benign	Het
Ppp6r3	A	T	19: 3,544,017 (GRCm39)	W333R	probably damaging	Het
Ptk2b	T	A	14: 66,412,242 (GRCm39)	N383I	probably benign	Het
Rab21	G	C	10: 115,151,080 (GRCm39)	R58G	probably benign	Het
Rabif	C	T	1: 134,433,935 (GRCm39)	T83I	probably damaging	Het
Rdh7	A	T	10: 127,724,430 (GRCm39)	F18Y	probably benign	Het
Scart2	C	T	7: 139,841,532 (GRCm39)	P279S	possibly damaging	Het
Septin5	A	G	16: 18,441,861 (GRCm39)	M315T	possibly damaging	Het
Slc27a6	A	G	18: 58,715,306 (GRCm39)	Y303C	probably damaging	Het
Slc7a7	T	A	14: 54,607,293 (GRCm39)	M495L	probably benign	Het
Sntg1	T	A	1: 8,748,074 (GRCm39)		probably null	Het
Spred2	T	A	11: 19,951,019 (GRCm39)	I72N	probably benign	Het
St3gal1	A	T	15: 66,980,086 (GRCm39)	I271N	possibly damaging	Het
Stox1	A	T	10: 62,495,386 (GRCm39)	H962Q	probably benign	Het
Supt6	A	T	11: 78,103,664 (GRCm39)	M1347K	probably damaging	Het
Susd2	G	T	10: 75,475,452 (GRCm39)	A484D	possibly damaging	Het
Tmem260	A	G	14: 48,737,845 (GRCm39)		probably benign	Het
Tpbg	C	A	9: 85,726,520 (GRCm39)	A163E	possibly damaging	Het
Tpx2	T	C	2: 152,724,255 (GRCm39)	Y344H	probably damaging	Het
Ttf2	A	T	3: 100,870,028 (GRCm39)	F348L	probably benign	Het
Ttn	A	T	2: 76,663,650 (GRCm39)	V11675E	unknown	Het
Txnl4b	T	A	8: 110,299,467 (GRCm39)	Y142*	probably null	Het
Vmn2r18	G	A	5: 151,485,140 (GRCm39)	R785C	possibly damaging	Het
Zbtb18	T	A	1: 177,276,044 (GRCm39)	V459E	probably damaging	Het

Other mutations in Fmo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Fmo1	APN	1	162,663,815 (GRCm39)	missense	probably damaging	1.00
IGL00479:Fmo1	APN	1	162,657,632 (GRCm39)	missense	probably benign	0.00
IGL01612:Fmo1	APN	1	162,661,168 (GRCm39)	missense	probably benign	0.42
IGL01650:Fmo1	APN	1	162,661,153 (GRCm39)	missense	probably benign	0.04
IGL02052:Fmo1	APN	1	162,677,629 (GRCm39)	critical splice donor site	probably null
IGL02340:Fmo1	APN	1	162,660,559 (GRCm39)	missense	probably benign	0.02
IGL03348:Fmo1	APN	1	162,677,720 (GRCm39)	missense	possibly damaging	0.76
IGL03388:Fmo1	APN	1	162,663,716 (GRCm39)	missense	probably benign	0.17
PIT1430001:Fmo1	UTSW	1	162,657,622 (GRCm39)	missense	probably benign	0.00
R0279:Fmo1	UTSW	1	162,657,841 (GRCm39)	missense	possibly damaging	0.92
R0314:Fmo1	UTSW	1	162,687,031 (GRCm39)	missense	probably damaging	1.00
R0348:Fmo1	UTSW	1	162,663,704 (GRCm39)	missense	probably benign	0.00
R0385:Fmo1	UTSW	1	162,663,773 (GRCm39)	missense	possibly damaging	0.94
R0699:Fmo1	UTSW	1	162,661,341 (GRCm39)	missense	probably benign	0.00
R1413:Fmo1	UTSW	1	162,661,431 (GRCm39)	missense	probably damaging	0.98
R1424:Fmo1	UTSW	1	162,657,635 (GRCm39)	missense	probably damaging	1.00
R1430:Fmo1	UTSW	1	162,667,293 (GRCm39)	missense	probably damaging	1.00
R1851:Fmo1	UTSW	1	162,657,554 (GRCm39)	nonsense	probably null
R1929:Fmo1	UTSW	1	162,661,424 (GRCm39)	missense	probably damaging	1.00
R1982:Fmo1	UTSW	1	162,667,325 (GRCm39)	missense	possibly damaging	0.83
R2272:Fmo1	UTSW	1	162,661,424 (GRCm39)	missense	probably damaging	1.00
R2568:Fmo1	UTSW	1	162,663,828 (GRCm39)	missense	probably benign	0.00
R3787:Fmo1	UTSW	1	162,657,583 (GRCm39)	missense	possibly damaging	0.54
R3825:Fmo1	UTSW	1	162,678,916 (GRCm39)	splice site	probably benign
R3904:Fmo1	UTSW	1	162,661,337 (GRCm39)	missense	possibly damaging	0.54
R4320:Fmo1	UTSW	1	162,661,200 (GRCm39)	missense	probably damaging	1.00
R4367:Fmo1	UTSW	1	162,661,217 (GRCm39)	nonsense	probably null
R4431:Fmo1	UTSW	1	162,661,281 (GRCm39)	missense	possibly damaging	0.76
R4473:Fmo1	UTSW	1	162,677,732 (GRCm39)	missense	possibly damaging	0.90
R5340:Fmo1	UTSW	1	162,657,551 (GRCm39)	missense	probably benign	0.39
R5354:Fmo1	UTSW	1	162,657,714 (GRCm39)	missense	probably benign	0.01
R5479:Fmo1	UTSW	1	162,677,793 (GRCm39)	missense	probably damaging	0.99
R5930:Fmo1	UTSW	1	162,667,185 (GRCm39)	critical splice donor site	probably null
R6148:Fmo1	UTSW	1	162,679,088 (GRCm39)	missense	probably damaging	0.99
R6160:Fmo1	UTSW	1	162,663,867 (GRCm39)	missense	probably benign	0.00
R6164:Fmo1	UTSW	1	162,678,979 (GRCm39)	missense	probably benign	0.24
R6263:Fmo1	UTSW	1	162,677,629 (GRCm39)	critical splice donor site	probably null
R7046:Fmo1	UTSW	1	162,667,263 (GRCm39)	missense	possibly damaging	0.92
R7590:Fmo1	UTSW	1	162,687,251 (GRCm39)	intron	probably benign
R7663:Fmo1	UTSW	1	162,663,866 (GRCm39)	missense	possibly damaging	0.74
R7692:Fmo1	UTSW	1	162,661,402 (GRCm39)	missense	probably benign	0.16
R7712:Fmo1	UTSW	1	162,663,704 (GRCm39)	missense	probably benign	0.00
R8207:Fmo1	UTSW	1	162,677,676 (GRCm39)	missense	probably benign	0.28
R8917:Fmo1	UTSW	1	162,663,773 (GRCm39)	missense	probably benign	0.03
R9583:Fmo1	UTSW	1	162,686,996 (GRCm39)	missense
R9620:Fmo1	UTSW	1	162,661,390 (GRCm39)	missense	probably benign
X0022:Fmo1	UTSW	1	162,657,569 (GRCm39)	missense	possibly damaging	0.57
X0066:Fmo1	UTSW	1	162,667,273 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTCAAAGGAAGATGGGGATTCTTG -3'
(R):5'- GACATTCCCAATCTGGTGTCAG -3'

Sequencing Primer
(F):5'- GTGACTTTCACTGTTCGGTCC -3'
(R):5'- ATTCCCAATCTGGTGTCAGTCAGG -3'

Posted On

2021-08-02