Incidental Mutation 'R4273:Fmo4'
| ID |
322247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmo4
|
| Ensembl Gene |
ENSMUSG00000026692 |
| Gene Name |
flavin containing monooxygenase 4 |
| Synonyms |
|
| MMRRC Submission |
041645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R4273 (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 G
at 162632748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 201
(V201A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028014]
[ENSMUST00000111525]
[ENSMUST00000140274]
[ENSMUST00000144916]
|
| AlphaFold |
Q8VHG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028014
AA Change: V201A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028014
Gene: ENSMUSG00000026692
AA Change: V201A
| 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 |
probably damaging
Transcript: ENSMUST00000111525
AA Change: V201A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107150
Gene: ENSMUSG00000026692
AA Change: V201A
| 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 |
probably benign
Transcript: ENSMUST00000140274
|
| SMART Domains |
Protein: ENSMUSP00000118476
Gene: ENSMUSG00000026692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
2 |
99 |
1.5e-57 |
PFAM |
|
Pfam:NAD_binding_8
|
7 |
94 |
1.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144916
|
| SMART Domains |
Protein: ENSMUSP00000119389
Gene: ENSMUSG00000026692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
1 |
114 |
2.6e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193508
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
T |
A |
4: 86,792,835 (GRCm39) |
|
probably null |
Het |
| Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
| Akap8l |
T |
A |
17: 32,540,905 (GRCm39) |
K533* |
probably null |
Het |
| Appbp2 |
T |
C |
11: 85,125,502 (GRCm39) |
Y45C |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,422,697 (GRCm39) |
E1123G |
possibly damaging |
Het |
| Atp2c1 |
G |
T |
9: 105,312,339 (GRCm39) |
N493K |
probably benign |
Het |
| Bcr |
T |
C |
10: 74,960,943 (GRCm39) |
I458T |
probably damaging |
Het |
| Brd4 |
G |
A |
17: 32,433,756 (GRCm39) |
T468I |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,146,940 (GRCm39) |
D2774V |
possibly damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,495,417 (GRCm39) |
Y267C |
probably damaging |
Het |
| Chd6 |
C |
A |
2: 160,803,211 (GRCm39) |
A2156S |
probably benign |
Het |
| Dazap2 |
C |
A |
15: 100,515,971 (GRCm39) |
P100T |
probably damaging |
Het |
| Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
| Dst |
C |
T |
1: 34,231,421 (GRCm39) |
R3183C |
possibly damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
| Exoc3l |
T |
C |
8: 106,016,593 (GRCm39) |
*740W |
probably null |
Het |
| Exoc5 |
A |
T |
14: 49,252,937 (GRCm39) |
C625* |
probably null |
Het |
| Fam98b |
A |
T |
2: 117,090,712 (GRCm39) |
N137Y |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,776 (GRCm39) |
D1556E |
probably damaging |
Het |
| Fcer2a |
C |
A |
8: 3,732,848 (GRCm39) |
V319L |
possibly damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,499,371 (GRCm39) |
V1247A |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,762,763 (GRCm39) |
G755D |
probably benign |
Het |
| Grid2 |
T |
C |
6: 63,886,029 (GRCm39) |
Y142H |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,608,784 (GRCm39) |
Q376R |
probably damaging |
Het |
| Impdh2 |
T |
C |
9: 108,442,155 (GRCm39) |
M414T |
probably damaging |
Het |
| Itm2c |
A |
G |
1: 85,834,750 (GRCm39) |
T160A |
probably damaging |
Het |
| Kcna2 |
T |
A |
3: 107,012,509 (GRCm39) |
D363E |
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,223,050 (GRCm39) |
C412Y |
probably damaging |
Het |
| Lims2 |
C |
G |
18: 32,089,390 (GRCm39) |
T151S |
probably benign |
Het |
| Mier1 |
T |
C |
4: 103,019,628 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,180 (GRCm39) |
W249R |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,634,609 (GRCm39) |
H2410R |
probably benign |
Het |
| Mvp |
C |
T |
7: 126,588,875 (GRCm39) |
A631T |
probably benign |
Het |
| Nepro |
T |
C |
16: 44,556,192 (GRCm39) |
V450A |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,269 (GRCm39) |
V140A |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,282,942 (GRCm39) |
E231G |
probably benign |
Het |
| Or10al7 |
A |
T |
17: 38,366,163 (GRCm39) |
I98N |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,923,971 (GRCm39) |
I155F |
probably benign |
Het |
| Pcdha3 |
C |
T |
18: 37,081,144 (GRCm39) |
R629C |
probably damaging |
Het |
| Pramel24 |
A |
T |
4: 143,453,416 (GRCm39) |
K175* |
probably null |
Het |
| Riok3 |
AGAAGCGG |
AG |
18: 12,268,998 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,110,020 (GRCm39) |
I1675T |
probably benign |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Slc35f4 |
G |
T |
14: 49,541,758 (GRCm39) |
T182N |
possibly damaging |
Het |
| Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
| Sox9 |
T |
C |
11: 112,675,980 (GRCm39) |
S390P |
possibly damaging |
Het |
| Tango2 |
T |
C |
16: 18,120,654 (GRCm39) |
|
probably benign |
Het |
| Tas1r1 |
T |
C |
4: 152,116,614 (GRCm39) |
E340G |
possibly damaging |
Het |
| Tek |
G |
A |
4: 94,718,207 (GRCm39) |
G524R |
probably damaging |
Het |
| Tmem260 |
A |
T |
14: 48,742,761 (GRCm39) |
Y532F |
probably benign |
Het |
| Tsks |
C |
A |
7: 44,607,353 (GRCm39) |
L559I |
probably damaging |
Het |
| Unc79 |
C |
A |
12: 103,088,612 (GRCm39) |
L1702I |
probably damaging |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,133 (GRCm39) |
I237N |
probably damaging |
Het |
| Vmn2r17 |
G |
A |
5: 109,600,832 (GRCm39) |
C710Y |
probably benign |
Het |
| Zfp119b |
G |
T |
17: 56,245,926 (GRCm39) |
T420K |
possibly damaging |
Het |
| Zfp202 |
C |
T |
9: 40,118,790 (GRCm39) |
R68* |
probably null |
Het |
| Zfp229 |
T |
A |
17: 21,965,802 (GRCm39) |
S677R |
probably benign |
Het |
| Zfp462 |
C |
T |
4: 55,008,411 (GRCm39) |
H126Y |
probably benign |
Het |
| Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
Het |
| Zfp616 |
T |
A |
11: 73,974,526 (GRCm39) |
M265K |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,538,173 (GRCm39) |
I1031N |
probably damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,747,726 (GRCm39) |
Y203C |
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 |
|
R2272:Fmo4
|
UTSW |
1 |
162,626,616 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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'- TGTTTTCTGAAAGAGCAGACCAAG -3'
(R):5'- CTGCAAGTGGTGATACAAGC -3'
Sequencing Primer
(F):5'- CCAAGAGTGGCTTTGGGAC -3'
(R):5'- GTGGTGATACAAGCAGCAAGTTTCTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation