Incidental Mutation 'R3087:Fmo5'
| ID |
262852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmo5
|
| Ensembl Gene |
ENSMUSG00000028088 |
| Gene Name |
flavin containing monooxygenase 5 |
| Synonyms |
5033418D19Rik |
| MMRRC Submission |
040576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R3087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
97536120-97562598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97549011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 220
(W220R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029729]
[ENSMUST00000107049]
[ENSMUST00000107050]
|
| AlphaFold |
P97872 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029729
AA Change: W220R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029729
Gene: ENSMUSG00000028088
AA Change: W220R
| 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 |
probably damaging
Transcript: ENSMUST00000107049
AA Change: W220R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102664
Gene: ENSMUSG00000028088
AA Change: W220R
| 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 |
probably damaging
Transcript: ENSMUST00000107050
AA Change: W220R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102665
Gene: ENSMUSG00000028088
AA Change: W220R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140283
|
| Meta Mutation Damage Score |
0.9125 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
97% (29/30) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aknad1 |
C |
T |
3: 108,664,179 (GRCm39) |
Q381* |
probably null |
Het |
| Arhgef39 |
C |
T |
4: 43,497,581 (GRCm39) |
|
probably null |
Het |
| Cblif |
A |
T |
19: 11,737,737 (GRCm39) |
K383* |
probably null |
Het |
| Ccdc85a |
G |
T |
11: 28,342,857 (GRCm39) |
C113* |
probably null |
Het |
| Cdc16 |
T |
C |
8: 13,809,004 (GRCm39) |
Y19H |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,657,347 (GRCm39) |
M289K |
probably benign |
Het |
| Cyp2u1 |
G |
A |
3: 131,096,676 (GRCm39) |
A34V |
probably benign |
Het |
| Dkk2 |
A |
C |
3: 131,791,900 (GRCm39) |
N36T |
probably damaging |
Het |
| Fam222a |
A |
G |
5: 114,750,015 (GRCm39) |
S404G |
probably damaging |
Het |
| Fbll1 |
A |
T |
11: 35,689,017 (GRCm39) |
V82E |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,284,856 (GRCm39) |
S754P |
probably benign |
Het |
| Gm7275 |
A |
G |
16: 47,894,098 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
G |
T |
2: 180,897,433 (GRCm39) |
|
probably benign |
Het |
| Ifi44l |
T |
C |
3: 151,468,494 (GRCm39) |
H12R |
unknown |
Het |
| Itsn2 |
T |
C |
12: 4,716,303 (GRCm39) |
Y1021H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,257 (GRCm39) |
S374P |
possibly damaging |
Het |
| Map4k4 |
A |
T |
1: 40,060,242 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
T |
13: 102,990,434 (GRCm39) |
|
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,668 (GRCm39) |
L265H |
probably damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,907,319 (GRCm39) |
I195V |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,520,416 (GRCm39) |
D56G |
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,322,823 (GRCm39) |
Y224C |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,786,483 (GRCm39) |
Y420C |
probably damaging |
Het |
| Tlr6 |
A |
T |
5: 65,111,668 (GRCm39) |
M413K |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r11 |
A |
C |
6: 57,114,691 (GRCm39) |
K81N |
possibly damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,580,607 (GRCm39) |
E515K |
probably benign |
Het |
| Vstm4 |
T |
C |
14: 32,614,592 (GRCm39) |
V178A |
possibly damaging |
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 |
|
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 |
|
|
R9611:Fmo5
|
UTSW |
3 |
97,549,089 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAAGATGTATCCATGGCC -3'
(R):5'- CTGTGTTTAGGTTTCAGGCCAAAC -3'
Sequencing Primer
(F):5'- CAAGATGTATCCATGGCCAGTGC -3'
(R):5'- GGTTTCAGGCCAAACATTTCATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation