Incidental Mutation 'R2272:Fmo1'
| ID |
242531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmo1
|
| Ensembl Gene |
ENSMUSG00000040181 |
| Gene Name |
flavin containing monooxygenase 1 |
| Synonyms |
|
| MMRRC Submission |
040272-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R2272 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
162657130-162694179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 162661424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 286
(D286E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046049]
[ENSMUST00000131058]
[ENSMUST00000134098]
[ENSMUST00000193078]
|
| AlphaFold |
P50285 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046049
AA Change: D286E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037259
Gene: ENSMUSG00000040181
AA Change: D286E
| 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: 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: D286E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117398
Gene: ENSMUSG00000040181
AA Change: D286E
| 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: ENSMUST00000136120
|
| 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
|
| Meta Mutation Damage Score |
0.3807 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
A |
T |
1: 165,337,866 (GRCm39) |
E160V |
probably damaging |
Het |
| Ago1 |
C |
A |
4: 126,347,443 (GRCm39) |
M435I |
probably benign |
Het |
| Apol7b |
G |
A |
15: 77,307,910 (GRCm39) |
A195V |
probably damaging |
Het |
| Arid3c |
T |
A |
4: 41,724,744 (GRCm39) |
I364F |
probably damaging |
Het |
| Atg2b |
C |
T |
12: 105,604,267 (GRCm39) |
V1545I |
probably benign |
Het |
| Atp4a |
C |
A |
7: 30,414,925 (GRCm39) |
S238* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,909,966 (GRCm39) |
V1453A |
probably benign |
Het |
| Bmal2 |
T |
C |
6: 146,723,612 (GRCm39) |
F314S |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,142 (GRCm39) |
R530G |
possibly damaging |
Het |
| Carnmt1 |
T |
C |
19: 18,680,734 (GRCm39) |
L336P |
probably damaging |
Het |
| Cdh22 |
A |
T |
2: 164,985,767 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
C |
4: 70,184,915 (GRCm39) |
S1178R |
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,923,322 (GRCm39) |
V45A |
probably benign |
Het |
| Cracr2a |
T |
A |
6: 127,584,261 (GRCm39) |
F107I |
probably damaging |
Het |
| Cyfip1 |
G |
T |
7: 55,549,705 (GRCm39) |
R624L |
probably null |
Het |
| Ddc |
T |
C |
11: 11,785,764 (GRCm39) |
N308D |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,808,530 (GRCm39) |
N195S |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,003,188 (GRCm39) |
D872G |
probably benign |
Het |
| Fmo4 |
A |
T |
1: 162,626,616 (GRCm39) |
I310N |
possibly damaging |
Het |
| Garin5b |
T |
A |
7: 4,761,186 (GRCm39) |
T509S |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,035,764 (GRCm39) |
I152L |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,470,716 (GRCm39) |
C2214S |
probably damaging |
Het |
| Kcnq3 |
T |
A |
15: 65,900,529 (GRCm39) |
D242V |
probably damaging |
Het |
| Klhl1 |
T |
C |
14: 96,755,344 (GRCm39) |
D137G |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,820,396 (GRCm39) |
D3282G |
possibly damaging |
Het |
| Lhx8 |
A |
G |
3: 154,022,399 (GRCm39) |
L254S |
probably damaging |
Het |
| Lipa |
T |
A |
19: 34,488,290 (GRCm39) |
R119* |
probably null |
Het |
| Matn4 |
A |
T |
2: 164,239,162 (GRCm39) |
C232S |
possibly damaging |
Het |
| Mios |
C |
T |
6: 8,226,865 (GRCm39) |
R614C |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Muc6 |
T |
A |
7: 141,217,423 (GRCm39) |
T2417S |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,381,774 (GRCm39) |
H3612R |
probably null |
Het |
| Myo5b |
G |
T |
18: 74,866,996 (GRCm39) |
L1382F |
probably damaging |
Het |
| Myo7b |
C |
T |
18: 32,110,096 (GRCm39) |
S1122N |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,722,584 (GRCm39) |
F549I |
probably damaging |
Het |
| Ncbp2 |
T |
C |
16: 31,775,769 (GRCm39) |
Y138H |
probably damaging |
Het |
| Neil1 |
A |
G |
9: 57,054,069 (GRCm39) |
S84P |
probably damaging |
Het |
| Nfix |
A |
G |
8: 85,453,804 (GRCm39) |
I256T |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,222 (GRCm39) |
D474E |
probably benign |
Het |
| Or5ac21 |
T |
G |
16: 59,123,807 (GRCm39) |
M98R |
possibly damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,705 (GRCm39) |
H54L |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,042,088 (GRCm39) |
V2240A |
probably benign |
Het |
| Per3 |
T |
A |
4: 151,103,342 (GRCm39) |
Y530F |
probably damaging |
Het |
| Pes1 |
C |
A |
11: 3,919,524 (GRCm39) |
L66I |
probably damaging |
Het |
| Pramel22 |
G |
A |
4: 143,380,712 (GRCm39) |
T437I |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,472,681 (GRCm39) |
|
probably null |
Het |
| Prpf8 |
T |
A |
11: 75,386,189 (GRCm39) |
V946E |
probably damaging |
Het |
| Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
| Prss54 |
C |
T |
8: 96,297,735 (GRCm39) |
W45* |
probably null |
Het |
| Psg29 |
A |
T |
7: 16,944,621 (GRCm39) |
N377I |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 185,015,739 (GRCm39) |
|
probably null |
Het |
| Serpinb9c |
C |
T |
13: 33,338,524 (GRCm39) |
G125E |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 111,977,065 (GRCm39) |
T152A |
probably benign |
Het |
| Slc26a2 |
A |
G |
18: 61,331,650 (GRCm39) |
C594R |
possibly damaging |
Het |
| Slc47a2 |
A |
T |
11: 61,219,352 (GRCm39) |
|
probably null |
Het |
| Ttc39d |
A |
G |
17: 80,524,675 (GRCm39) |
K445E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,594,864 (GRCm39) |
E20394V |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,214,114 (GRCm39) |
V510A |
possibly damaging |
Het |
| Usf1 |
T |
C |
1: 171,245,628 (GRCm39) |
L291P |
possibly damaging |
Het |
| Usp7 |
T |
C |
16: 8,516,333 (GRCm39) |
S649G |
probably benign |
Het |
| Vmn1r172 |
A |
C |
7: 23,359,616 (GRCm39) |
D167A |
probably damaging |
Het |
| Wnt10b |
T |
A |
15: 98,672,228 (GRCm39) |
Q163L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTACAGTGATGCCTGGC -3'
(R):5'- GCTTAGTAACTGTGCAGGAGC -3'
Sequencing Primer
(F):5'- TACAGTGATGCCTGGCCATCC -3'
(R):5'- TGCAGGAGCTCTTTGATAAGCAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation