Incidental Mutation 'IGL00418:Fmo1'
| ID |
7338 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fmo1
|
| Ensembl Gene |
ENSMUSG00000040181 |
| Gene Name |
flavin containing monooxygenase 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL00418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
162657130-162694179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 162663815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 238
(R238Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046049]
[ENSMUST00000111518]
[ENSMUST00000131058]
[ENSMUST00000134098]
[ENSMUST00000193078]
|
| AlphaFold |
P50285 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046049
AA Change: R238Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037259
Gene: ENSMUSG00000040181
AA Change: R238Q
| 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 damaging
Transcript: ENSMUST00000134098
AA Change: R238Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117398
Gene: ENSMUSG00000040181
AA Change: R238Q
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
G |
12: 55,095,748 (GRCm39) |
I238T |
probably damaging |
Het |
| Akap4 |
T |
C |
X: 6,942,729 (GRCm39) |
V344A |
possibly damaging |
Het |
| Apex2 |
T |
C |
X: 149,355,048 (GRCm39) |
K430E |
probably benign |
Het |
| Aqp9 |
C |
T |
9: 71,040,013 (GRCm39) |
A90T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,558,642 (GRCm39) |
|
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Bspry |
G |
T |
4: 62,414,342 (GRCm39) |
D312Y |
probably benign |
Het |
| Cdh16 |
G |
A |
8: 105,350,045 (GRCm39) |
R5W |
probably benign |
Het |
| Ciz1 |
C |
T |
2: 32,262,400 (GRCm39) |
R461C |
probably damaging |
Het |
| Cldn14 |
T |
A |
16: 93,716,189 (GRCm39) |
D219V |
probably benign |
Het |
| Clpb |
A |
T |
7: 101,436,952 (GRCm39) |
T706S |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,669 (GRCm39) |
M90K |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,332,853 (GRCm39) |
I498F |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,385,892 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
T |
A |
3: 118,737,891 (GRCm39) |
F477L |
probably damaging |
Het |
| Dscaml1 |
C |
A |
9: 45,581,498 (GRCm39) |
S439* |
probably null |
Het |
| Faxc |
A |
G |
4: 21,958,490 (GRCm39) |
K216E |
possibly damaging |
Het |
| Gm14399 |
G |
A |
2: 174,973,315 (GRCm39) |
R147* |
probably null |
Het |
| H2-Ab1 |
G |
A |
17: 34,486,549 (GRCm39) |
V203M |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,060,570 (GRCm39) |
E2035G |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,455,200 (GRCm39) |
I786T |
probably damaging |
Het |
| Homer1 |
T |
C |
13: 93,524,196 (GRCm39) |
|
probably benign |
Het |
| Igkv9-120 |
A |
G |
6: 68,026,971 (GRCm39) |
D2G |
possibly damaging |
Het |
| Irgm1 |
A |
T |
11: 48,756,832 (GRCm39) |
Y326* |
probably null |
Het |
| Kctd19 |
A |
T |
8: 106,115,095 (GRCm39) |
|
probably null |
Het |
| Large1 |
T |
C |
8: 73,550,469 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
G |
A |
7: 12,778,543 (GRCm39) |
A287V |
possibly damaging |
Het |
| Nes |
A |
T |
3: 87,883,561 (GRCm39) |
K607* |
probably null |
Het |
| Pars2 |
T |
A |
4: 106,511,247 (GRCm39) |
V307E |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,488,785 (GRCm39) |
I1012F |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,451,431 (GRCm39) |
|
probably benign |
Het |
| Rbm14 |
T |
C |
19: 4,852,576 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,594,866 (GRCm39) |
Q1905L |
probably benign |
Het |
| Slc26a2 |
A |
G |
18: 61,331,812 (GRCm39) |
F540L |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,956,640 (GRCm39) |
|
probably benign |
Het |
| Tas2r106 |
T |
C |
6: 131,654,922 (GRCm39) |
|
probably null |
Het |
| Tmem175 |
T |
A |
5: 108,793,732 (GRCm39) |
D287E |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,787,835 (GRCm39) |
K416R |
probably damaging |
Het |
| Trim2 |
A |
G |
3: 84,115,596 (GRCm39) |
L86P |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,783,544 (GRCm39) |
N240K |
probably damaging |
Het |
| Wdr90 |
A |
C |
17: 26,068,338 (GRCm39) |
I1330S |
probably damaging |
Het |
| Wfdc6a |
A |
G |
2: 164,426,914 (GRCm39) |
|
probably null |
Het |
| Zc3h12c |
C |
T |
9: 52,027,965 (GRCm39) |
V466M |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,768,543 (GRCm39) |
T1025A |
probably damaging |
Het |
|
| Other mutations in Fmo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R8895:Fmo1
|
UTSW |
1 |
162,657,827 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation