Incidental Mutation 'R2272:Fmo4'
| ID |
242530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmo4
|
| Ensembl Gene |
ENSMUSG00000026692 |
| Gene Name |
flavin containing monooxygenase 4 |
| Synonyms |
|
| MMRRC Submission |
040272-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R2272 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
162620757-162641541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 162626616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 310
(I310N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028014]
[ENSMUST00000111525]
|
| AlphaFold |
Q8VHG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028014
AA Change: I310N
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028014
Gene: ENSMUSG00000026692
AA Change: I310N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
2 |
531 |
9.4e-272 |
PFAM |
|
Pfam:Pyr_redox_2
|
4 |
430 |
1e-8 |
PFAM |
|
Pfam:Pyr_redox_3
|
6 |
220 |
5.1e-16 |
PFAM |
|
Pfam:K_oxygenase
|
68 |
227 |
1.7e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111525
AA Change: I310N
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107150
Gene: ENSMUSG00000026692
AA Change: I310N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
2 |
531 |
9.4e-272 |
PFAM |
|
Pfam:Pyr_redox_2
|
3 |
225 |
1.7e-11 |
PFAM |
|
Pfam:Pyr_redox_3
|
6 |
220 |
2.5e-9 |
PFAM |
|
Pfam:K_oxygenase
|
67 |
227 |
6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193508
|
| Meta Mutation Damage Score |
0.1795 |
| 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 diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme 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. [provided by RefSeq, Jan 2015]
|
| 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 |
| Fmo1 |
A |
T |
1: 162,661,424 (GRCm39) |
D286E |
probably 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 Fmo4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00933:Fmo4
|
APN |
1 |
162,621,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01090:Fmo4
|
APN |
1 |
162,637,354 (GRCm39) |
splice site |
probably null |
|
|
IGL01295:Fmo4
|
APN |
1 |
162,626,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02089:Fmo4
|
APN |
1 |
162,626,649 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02483:Fmo4
|
APN |
1 |
162,635,990 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0608:Fmo4
|
UTSW |
1 |
162,631,220 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0660:Fmo4
|
UTSW |
1 |
162,637,417 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0737:Fmo4
|
UTSW |
1 |
162,635,961 (GRCm39) |
nonsense |
probably null |
|
|
R1117:Fmo4
|
UTSW |
1 |
162,631,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1464:Fmo4
|
UTSW |
1 |
162,621,924 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1464:Fmo4
|
UTSW |
1 |
162,621,924 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1577:Fmo4
|
UTSW |
1 |
162,631,269 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1792:Fmo4
|
UTSW |
1 |
162,621,859 (GRCm39) |
missense |
probably benign |
|
|
R1875:Fmo4
|
UTSW |
1 |
162,631,187 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1929:Fmo4
|
UTSW |
1 |
162,626,616 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1956:Fmo4
|
UTSW |
1 |
162,631,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1957:Fmo4
|
UTSW |
1 |
162,631,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1958:Fmo4
|
UTSW |
1 |
162,631,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2011:Fmo4
|
UTSW |
1 |
162,626,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2030:Fmo4
|
UTSW |
1 |
162,621,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Fmo4
|
UTSW |
1 |
162,637,456 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3890:Fmo4
|
UTSW |
1 |
162,621,624 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4255:Fmo4
|
UTSW |
1 |
162,621,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4273:Fmo4
|
UTSW |
1 |
162,632,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4760:Fmo4
|
UTSW |
1 |
162,637,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5445:Fmo4
|
UTSW |
1 |
162,632,842 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5726:Fmo4
|
UTSW |
1 |
162,635,828 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5786:Fmo4
|
UTSW |
1 |
162,631,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6391:Fmo4
|
UTSW |
1 |
162,621,538 (GRCm39) |
nonsense |
probably null |
|
|
R6826:Fmo4
|
UTSW |
1 |
162,631,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7457:Fmo4
|
UTSW |
1 |
162,621,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7913:Fmo4
|
UTSW |
1 |
162,621,741 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8031:Fmo4
|
UTSW |
1 |
162,626,421 (GRCm39) |
nonsense |
probably null |
|
|
R8055:Fmo4
|
UTSW |
1 |
162,636,015 (GRCm39) |
missense |
probably benign |
|
|
R8234:Fmo4
|
UTSW |
1 |
162,632,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8346:Fmo4
|
UTSW |
1 |
162,621,792 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8706:Fmo4
|
UTSW |
1 |
162,621,592 (GRCm39) |
nonsense |
probably null |
|
|
R9050:Fmo4
|
UTSW |
1 |
162,635,099 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9467:Fmo4
|
UTSW |
1 |
162,631,238 (GRCm39) |
missense |
probably benign |
|
|
R9488:Fmo4
|
UTSW |
1 |
162,631,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9633:Fmo4
|
UTSW |
1 |
162,631,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0020:Fmo4
|
UTSW |
1 |
162,621,947 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Fmo4
|
UTSW |
1 |
162,631,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGACCCATTAAGGCTGATCAGG -3'
(R):5'- ACTGGTCAGCTCACTTTCTTGG -3'
Sequencing Primer
(F):5'- CTCTCCAAATTTGGGGGA -3'
(R):5'- CACTTTCTTGGTTTGGCAGATAATC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation