Incidental Mutation 'R9633:Fmo4'
| ID |
725642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmo4
|
| Ensembl Gene |
ENSMUSG00000026692 |
| Gene Name |
flavin containing monooxygenase 4 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R9633 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
162620757-162641541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 162631191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 259
(M259L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028014]
[ENSMUST00000111525]
[ENSMUST00000140274]
[ENSMUST00000144916]
|
| AlphaFold |
Q8VHG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028014
AA Change: M259L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000028014
Gene: ENSMUSG00000026692
AA Change: M259L
| 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 benign
Transcript: ENSMUST00000111525
AA Change: M259L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107150
Gene: ENSMUSG00000026692
AA Change: M259L
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
G |
4: 106,613,178 (GRCm39) |
V319A |
probably damaging |
Het |
| Afap1l1 |
A |
C |
18: 61,890,795 (GRCm39) |
S53A |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,600,125 (GRCm39) |
N1650K |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,872,507 (GRCm39) |
V553E |
possibly damaging |
Het |
| Avl9 |
T |
A |
6: 56,707,634 (GRCm39) |
I193N |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,895,688 (GRCm39) |
N553D |
|
Het |
| Dnah3 |
C |
A |
7: 119,550,216 (GRCm39) |
V389L |
probably benign |
Het |
| Erich6 |
T |
C |
3: 58,537,277 (GRCm39) |
M246V |
probably benign |
Het |
| F830016B08Rik |
A |
T |
18: 60,432,965 (GRCm39) |
D16V |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,060,776 (GRCm39) |
Y483N |
probably damaging |
Het |
| Gnat2 |
T |
A |
3: 108,002,770 (GRCm39) |
D59E |
probably benign |
Het |
| Izumo3 |
T |
A |
4: 92,034,795 (GRCm39) |
Y94F |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,781,444 (GRCm39) |
H772L |
probably benign |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
C |
T |
15: 101,586,996 (GRCm39) |
V259M |
probably benign |
Het |
| Lingo2 |
A |
G |
4: 35,709,885 (GRCm39) |
C32R |
|
Het |
| Lrrtm4 |
C |
T |
6: 80,000,064 (GRCm39) |
T492M |
probably damaging |
Het |
| Maea |
T |
A |
5: 33,526,050 (GRCm39) |
M242K |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,736,206 (GRCm39) |
T341A |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mmadhc |
A |
T |
2: 50,178,988 (GRCm39) |
S143R |
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,056,956 (GRCm39) |
V42A |
probably benign |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,103 (GRCm39) |
H292Q |
probably benign |
Het |
| Nkx2-2 |
A |
G |
2: 147,027,686 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,818 (GRCm39) |
K41R |
possibly damaging |
Het |
| Psmb9 |
T |
A |
17: 34,402,119 (GRCm39) |
D159V |
probably damaging |
Het |
| Rgs4 |
T |
A |
1: 169,572,843 (GRCm39) |
D31V |
possibly damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc22a14 |
A |
G |
9: 119,008,528 (GRCm39) |
S247P |
probably benign |
Het |
| Slc26a7 |
G |
A |
4: 14,524,540 (GRCm39) |
T448I |
possibly damaging |
Het |
| Slc7a14 |
T |
A |
3: 31,278,166 (GRCm39) |
T480S |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,850,463 (GRCm39) |
S830P |
unknown |
Het |
| Sycp2 |
A |
G |
2: 177,998,254 (GRCm39) |
S1089P |
probably damaging |
Het |
| Tcf4 |
A |
T |
18: 69,726,382 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,965,813 (GRCm39) |
V457A |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,847,069 (GRCm39) |
I1343N |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,638,009 (GRCm39) |
A1164T |
probably damaging |
Het |
| Tomm5 |
G |
A |
4: 45,107,982 (GRCm39) |
R18W |
probably damaging |
Het |
| Ubxn7 |
T |
C |
16: 32,200,248 (GRCm39) |
S335P |
probably benign |
Het |
| Unc5c |
A |
C |
3: 141,495,654 (GRCm39) |
T508P |
probably damaging |
Het |
| Upp1 |
G |
A |
11: 9,084,909 (GRCm39) |
M209I |
|
Het |
| Vmn1r213 |
A |
G |
13: 23,195,519 (GRCm39) |
D34G |
unknown |
Het |
| Vmn1r235 |
G |
T |
17: 21,482,330 (GRCm39) |
W218C |
possibly damaging |
Het |
| Vmn1r235 |
G |
T |
17: 21,482,329 (GRCm39) |
W218L |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,076,006 (GRCm39) |
E502G |
probably benign |
Het |
| Wwc2 |
GCC |
GCCC |
8: 48,304,959 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
T |
A |
10: 115,247,852 (GRCm39) |
H1018Q |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,710,421 (GRCm39) |
S715T |
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 |
|
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 |
|
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'- TAGGTTTGGAGAAGGATGACTATC -3'
(R):5'- GAAAGTGATGGACATGTGTTTATCC -3'
Sequencing Primer
(F):5'- AAAGGGAGGTTGGCTTTGAAC -3'
(R):5'- TGATGGACATGTGTTTATCCTTTTC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation