Mutagenetix > Incidental Mutation

Incidental Mutation 'R9611:Fmo5'

724205

Institutional Source

Beutler Lab

Gene Symbol

Fmo5

Ensembl Gene

ENSMUSG00000028088

Gene Name

flavin containing monooxygenase 5

Synonyms

5033418D19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R9611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97536120-97562598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97549089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 246 (R246C)

Ref Sequence

ENSEMBL: ENSMUSP00000029729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029729] [ENSMUST00000107049] [ENSMUST00000107050]

AlphaFold

P97872

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029729
AA Change: R246C

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029729
Gene: ENSMUSG00000028088
AA Change: R246C

Domain	Start	End	E-Value	Type
Pfam:FMO-like	3	533	9.7e-280	PFAM
Pfam:Pyr_redox_2	5	224	3.4e-8	PFAM
Pfam:Pyr_redox_3	7	221	2.2e-21	PFAM
Pfam:NAD_binding_8	8	69	1.7e-6	PFAM
Pfam:K_oxygenase	81	223	9.6e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107049
AA Change: R246C

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102664
Gene: ENSMUSG00000028088
AA Change: R246C

Domain	Start	End	E-Value	Type
Pfam:FMO-like	3	533	9.7e-280	PFAM
Pfam:Pyr_redox_2	5	224	3.4e-8	PFAM
Pfam:Pyr_redox_3	7	221	2.2e-21	PFAM
Pfam:NAD_binding_8	8	69	1.7e-6	PFAM
Pfam:K_oxygenase	81	223	9.6e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107050
AA Change: R246C

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102665
Gene: ENSMUSG00000028088
AA Change: R246C

Domain	Start	End	E-Value	Type
Pfam:FMO-like	3	533	9.7e-280	PFAM
Pfam:Pyr_redox_2	4	228	8.5e-11	PFAM
Pfam:Pyr_redox_3	7	221	4.7e-11	PFAM
Pfam:NAD_binding_8	8	70	3.5e-7	PFAM
Pfam:K_oxygenase	80	222	2.9e-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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-out allele show an age-related lean phenotype despite increased food intake, lower plasma levels of glucose and cholesterol, decreased fat storage in WAT, altered fatty acid oxidation, increased energy expenditure and respiratory quotient but normal physical activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	T	18: 59,023,399 (GRCm39)	T265S	probably benign	Het
Ahnak	T	A	19: 8,989,162 (GRCm39)	L3482Q	probably damaging	Het
Arhgef5	A	G	6: 43,257,890 (GRCm39)	I1311M	probably damaging	Het
Bcr	T	A	10: 74,990,743 (GRCm39)	Y750N	probably damaging	Het
Bcr	T	A	10: 74,990,745 (GRCm39)	Y750*	probably null	Het
Btbd16	T	A	7: 130,407,595 (GRCm39)	M295K	probably benign	Het
Ccdc88a	T	C	11: 29,427,316 (GRCm39)	L1007P	possibly damaging	Het
Cnep1r1	A	G	8: 88,860,457 (GRCm39)	*126W	probably null	Het
Cntnap5b	C	A	1: 99,894,935 (GRCm39)	P69Q	probably damaging	Het
Coa8	T	G	12: 111,700,108 (GRCm39)	Y163D	probably damaging	Het
Col4a3	A	G	1: 82,678,018 (GRCm39)	M1207V	unknown	Het
Colgalt2	T	A	1: 152,360,745 (GRCm39)	W261R	probably damaging	Het
Cstf1	T	A	2: 172,214,984 (GRCm39)	I35N	probably benign	Het
Cstpp1	T	C	2: 91,135,127 (GRCm39)	D111G	probably damaging	Het
Cul9	A	G	17: 46,830,823 (GRCm39)	L1690P	possibly damaging	Het
Dscaml1	C	A	9: 45,579,522 (GRCm39)	N356K	possibly damaging	Het
Ecm2	A	G	13: 49,668,518 (GRCm39)	N74D	probably benign	Het
Ecm2	A	G	13: 49,681,216 (GRCm39)	I450M	probably damaging	Het
Emc1	T	A	4: 139,091,035 (GRCm39)	D460E	probably benign	Het
Fhip2b	T	C	14: 70,824,258 (GRCm39)	Y493C	probably benign	Het
Fyco1	T	C	9: 123,657,585 (GRCm39)	T864A	possibly damaging	Het
Galk2	T	C	2: 125,817,218 (GRCm39)	Y336H	probably damaging	Het
Gcsh	T	A	8: 117,720,125 (GRCm39)	Y14F	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gucy2g	T	C	19: 55,194,605 (GRCm39)	I937M	probably damaging	Het
Hsp90ab1	T	C	17: 45,880,600 (GRCm39)	I370M	possibly damaging	Het
Hypk	T	C	2: 121,288,154 (GRCm39)	S72P	probably damaging	Het
Ighv1-26	T	C	12: 114,752,206 (GRCm39)	Y46C	probably damaging	Het
Kctd13	G	T	7: 126,544,180 (GRCm39)	G293C	probably damaging	Het
Kmt2d	CTGCTGTTGCTG	CTGCTG	15: 98,743,054 (GRCm39)		probably benign	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Krt13	T	C	11: 100,012,318 (GRCm39)	S2G	probably benign	Het
Mark4	C	A	7: 19,167,338 (GRCm39)	R467L	possibly damaging	Het
Mrps33	T	A	6: 39,779,422 (GRCm39)	K91M	probably damaging	Het
Or51f1	T	G	7: 102,506,147 (GRCm39)	H114P	probably damaging	Het
Or5ac25	A	C	16: 59,182,242 (GRCm39)	I113S	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Pigyl	A	T	9: 22,069,499 (GRCm39)	H70L	probably damaging	Het
Pip4k2c	A	C	10: 127,036,069 (GRCm39)	L266R	probably damaging	Het
Plg	T	C	17: 12,609,213 (GRCm39)	Y173H	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Pot1b	T	A	17: 56,006,995 (GRCm39)	T41S	probably benign	Het
Ppp1r16b	T	A	2: 158,537,998 (GRCm39)	Y40N	probably damaging	Het
Prl5a1	A	G	13: 28,329,492 (GRCm39)	E57G	possibly damaging	Het
Prpf3	G	A	3: 95,758,931 (GRCm39)	R74*	probably null	Het
Psmb10	A	G	8: 106,664,144 (GRCm39)	F75S	probably benign	Het
Ptprm	C	A	17: 67,000,483 (GRCm39)	R1167M	probably damaging	Het
Rmnd5b	T	C	11: 51,517,869 (GRCm39)	I162V	probably damaging	Het
Sik1	T	A	17: 32,073,246 (GRCm39)	K70M	probably damaging	Het
Slc44a4	C	T	17: 35,147,793 (GRCm39)	S611F	probably benign	Het
St18	T	C	1: 6,873,147 (GRCm39)	V294A	probably benign	Het
Stk32a	A	G	18: 43,430,620 (GRCm39)	I177V	probably benign	Het
Syne2	T	C	12: 76,080,460 (GRCm39)	F58S	probably benign	Het
Tcf7l2	A	G	19: 55,899,038 (GRCm39)	D215G	probably null	Het
Tcirg1	A	T	19: 3,953,400 (GRCm39)	F149Y	probably benign	Het
Tex14	T	A	11: 87,377,084 (GRCm39)	F143I	probably damaging	Het
Tjp3	A	G	10: 81,119,411 (GRCm39)	V26A	possibly damaging	Het
Tnfaip8	ACACACTCTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Tpx2	T	A	2: 152,715,124 (GRCm39)	V115D	probably benign	Het
Tubb2b	C	A	13: 34,311,742 (GRCm39)	K350N	probably damaging	Het
Vps13b	G	T	15: 35,642,555 (GRCm39)	G1389V	possibly damaging	Het
Vps39	T	C	2: 120,172,485 (GRCm39)	R183G	probably damaging	Het
Wdr47	A	T	3: 108,518,729 (GRCm39)	E72D	probably damaging	Het
Wnk4	G	T	11: 101,159,250 (GRCm39)	E556*	probably null	Het
Xpo7	T	A	14: 70,925,617 (GRCm39)	E474V	probably benign	Het
Zfat	A	G	15: 68,051,655 (GRCm39)	V713A	possibly damaging	Het
Zfp189	G	T	4: 49,530,058 (GRCm39)	C387F	probably damaging	Het
Zmiz1	T	C	14: 25,651,022 (GRCm39)	V502A	probably benign	Het

Other mutations in Fmo5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Fmo5	APN	3	97,558,884 (GRCm39)	missense	probably benign	0.19
IGL01926:Fmo5	APN	3	97,544,797 (GRCm39)	missense	probably damaging	1.00
IGL03062:Fmo5	APN	3	97,542,909 (GRCm39)	missense	probably damaging	1.00
IGL03215:Fmo5	APN	3	97,549,122 (GRCm39)	missense	probably benign
IGL03323:Fmo5	APN	3	97,546,323 (GRCm39)	splice site	probably null
PIT4445001:Fmo5	UTSW	3	97,558,844 (GRCm39)	missense	probably benign	0.30
R0133:Fmo5	UTSW	3	97,552,952 (GRCm39)	missense	probably damaging	0.99
R0207:Fmo5	UTSW	3	97,552,997 (GRCm39)	missense	probably damaging	1.00
R0570:Fmo5	UTSW	3	97,536,456 (GRCm39)	missense	probably damaging	1.00
R2014:Fmo5	UTSW	3	97,542,998 (GRCm39)	missense	possibly damaging	0.56
R2093:Fmo5	UTSW	3	97,553,194 (GRCm39)	missense	probably benign	0.41
R3087:Fmo5	UTSW	3	97,549,011 (GRCm39)	missense	probably damaging	1.00
R3694:Fmo5	UTSW	3	97,553,230 (GRCm39)	missense	probably damaging	1.00
R3764:Fmo5	UTSW	3	97,553,033 (GRCm39)	missense	probably damaging	1.00
R4864:Fmo5	UTSW	3	97,553,195 (GRCm39)	missense	probably damaging	1.00
R4987:Fmo5	UTSW	3	97,542,894 (GRCm39)	missense	probably benign	0.23
R5152:Fmo5	UTSW	3	97,549,078 (GRCm39)	missense	probably benign	0.00
R5304:Fmo5	UTSW	3	97,558,938 (GRCm39)	missense	probably damaging	1.00
R5306:Fmo5	UTSW	3	97,549,076 (GRCm39)	missense	probably benign	0.00
R5563:Fmo5	UTSW	3	97,546,207 (GRCm39)	missense	probably damaging	1.00
R5888:Fmo5	UTSW	3	97,549,041 (GRCm39)	missense	probably benign	0.10
R6352:Fmo5	UTSW	3	97,552,991 (GRCm39)	missense	probably benign	0.16
R8346:Fmo5	UTSW	3	97,552,962 (GRCm39)	missense	probably damaging	1.00
R8547:Fmo5	UTSW	3	97,558,811 (GRCm39)	missense	probably benign	0.03
R9258:Fmo5	UTSW	3	97,558,802 (GRCm39)	missense	probably benign	0.07
R9322:Fmo5	UTSW	3	97,546,190 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACCTTCAGGAGAATGGGACTG -3'
(R):5'- TGGCTGTTCTGAAAGCCTGG -3'

Sequencing Primer
(F):5'- AATGGGACTGCTTTTGAAGGAC -3'
(R):5'- ATCCTGGAAACGTACCTG -3'

Posted On

2022-09-12