Incidental Mutation 'IGL03323:Fmo5'
| ID |
416566 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fmo5
|
| Ensembl Gene |
ENSMUSG00000028088 |
| Gene Name |
flavin containing monooxygenase 5 |
| Synonyms |
5033418D19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL03323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
97536120-97562598 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 97546323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029729]
[ENSMUST00000107049]
[ENSMUST00000107050]
|
| AlphaFold |
P97872 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029729
|
| SMART Domains |
Protein: ENSMUSP00000029729
Gene: ENSMUSG00000028088
| 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 null
Transcript: ENSMUST00000107049
|
| SMART Domains |
Protein: ENSMUSP00000102664
Gene: ENSMUSG00000028088
| 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 null
Transcript: ENSMUST00000107050
|
| SMART Domains |
Protein: ENSMUSP00000102665
Gene: ENSMUSG00000028088
| 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
|
| Coding Region Coverage |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
A |
T |
14: 103,292,730 (GRCm39) |
D418V |
probably damaging |
Het |
| Ahdc1 |
G |
A |
4: 132,792,739 (GRCm39) |
G1327S |
probably benign |
Het |
| Bcl2l15 |
A |
T |
3: 103,740,719 (GRCm39) |
I62L |
probably benign |
Het |
| Ccdc7a |
A |
T |
8: 129,785,244 (GRCm39) |
D105E |
probably benign |
Het |
| Cldn12 |
C |
A |
5: 5,558,421 (GRCm39) |
G2V |
probably damaging |
Het |
| Eapp |
G |
T |
12: 54,720,400 (GRCm39) |
H272N |
probably damaging |
Het |
| Fcrla |
A |
G |
1: 170,755,114 (GRCm39) |
|
probably benign |
Het |
| Fmnl3 |
C |
T |
15: 99,219,162 (GRCm39) |
G787S |
probably damaging |
Het |
| Golgb1 |
G |
T |
16: 36,733,815 (GRCm39) |
E1021* |
probably null |
Het |
| Hspa4 |
A |
T |
11: 53,155,960 (GRCm39) |
N648K |
probably benign |
Het |
| Iigp1 |
T |
C |
18: 60,522,896 (GRCm39) |
F5L |
probably benign |
Het |
| Lad1 |
T |
A |
1: 135,758,712 (GRCm39) |
|
probably null |
Het |
| Man2b2 |
T |
C |
5: 36,975,858 (GRCm39) |
D399G |
probably benign |
Het |
| Mc5r |
C |
T |
18: 68,472,286 (GRCm39) |
T215I |
probably benign |
Het |
| Mx2 |
A |
G |
16: 97,347,575 (GRCm39) |
S156G |
probably damaging |
Het |
| Necap2 |
A |
T |
4: 140,795,533 (GRCm39) |
I242N |
possibly damaging |
Het |
| Nme8 |
C |
T |
13: 19,873,120 (GRCm39) |
E175K |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,801,445 (GRCm39) |
C1098S |
probably damaging |
Het |
| Or1j16 |
T |
A |
2: 36,530,153 (GRCm39) |
M34K |
possibly damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,434 (GRCm39) |
Y132H |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,919,656 (GRCm39) |
|
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,607,162 (GRCm39) |
S968P |
probably damaging |
Het |
| Qsox2 |
A |
G |
2: 26,110,991 (GRCm39) |
S125P |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,460 (GRCm39) |
T598A |
probably benign |
Het |
| Slc2a2 |
G |
A |
3: 28,780,439 (GRCm39) |
M375I |
probably damaging |
Het |
| Tmed9 |
C |
T |
13: 55,744,691 (GRCm39) |
T173I |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,181,184 (GRCm39) |
D402G |
probably damaging |
Het |
| Ttc21a |
G |
T |
9: 119,769,602 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,511,295 (GRCm39) |
M503V |
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 |
|
|
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 |
|
|
R9611:Fmo5
|
UTSW |
3 |
97,549,089 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2016-08-02 |
Incidental Mutation