Incidental Mutation 'IGL02483:Fmo4'
| ID |
295309 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fmo4
|
| Ensembl Gene |
ENSMUSG00000026692 |
| Gene Name |
flavin containing monooxygenase 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL02483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
162620757-162641541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 162635990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 54
(V54A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028014]
[ENSMUST00000111525]
[ENSMUST00000140274]
[ENSMUST00000144916]
|
| AlphaFold |
Q8VHG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028014
AA Change: V54A
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000028014
Gene: ENSMUSG00000026692
AA Change: V54A
| 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: V54A
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107150
Gene: ENSMUSG00000026692
AA Change: V54A
| 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
AA Change: V54A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000118476
Gene: ENSMUSG00000026692
AA Change: V54A
| 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
AA Change: V4A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000119389
Gene: ENSMUSG00000026692
AA Change: V4A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
1 |
114 |
2.6e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193508
|
| 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 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
G |
8: 84,451,882 (GRCm39) |
I512L |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,980,672 (GRCm39) |
T652N |
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,340,729 (GRCm39) |
A209T |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,900,605 (GRCm39) |
H659L |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,218,170 (GRCm39) |
|
probably null |
Het |
| Car6 |
T |
A |
4: 150,280,586 (GRCm39) |
N86I |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,302 (GRCm39) |
E863V |
probably damaging |
Het |
| Cyp2c39 |
T |
A |
19: 39,525,231 (GRCm39) |
I178N |
probably damaging |
Het |
| Cysltr1 |
C |
A |
X: 105,621,728 (GRCm39) |
V253L |
probably damaging |
Het |
| Dgcr6 |
G |
A |
16: 17,883,038 (GRCm39) |
A6T |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,226,362 (GRCm39) |
|
probably null |
Het |
| Erc2 |
T |
A |
14: 27,375,028 (GRCm39) |
L82Q |
probably damaging |
Het |
| Ercc6l |
T |
C |
X: 101,188,275 (GRCm39) |
T745A |
probably benign |
Het |
| Foxd3 |
C |
T |
4: 99,545,265 (GRCm39) |
S135F |
probably damaging |
Het |
| Fut7 |
T |
A |
2: 25,313,888 (GRCm39) |
F21Y |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,437,910 (GRCm39) |
T414A |
probably benign |
Het |
| Gm4950 |
A |
T |
18: 51,998,406 (GRCm39) |
M183K |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,921,773 (GRCm39) |
D592G |
probably damaging |
Het |
| Hpd |
A |
T |
5: 123,320,641 (GRCm39) |
|
probably null |
Het |
| Imp4 |
T |
C |
1: 34,483,356 (GRCm39) |
|
probably null |
Het |
| Itgbl1 |
A |
T |
14: 124,065,155 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,282,299 (GRCm39) |
|
probably benign |
Het |
| Kdr |
C |
T |
5: 76,096,954 (GRCm39) |
|
probably null |
Het |
| Lca5 |
A |
T |
9: 83,305,170 (GRCm39) |
I212N |
probably damaging |
Het |
| Lgr6 |
T |
C |
1: 134,929,429 (GRCm39) |
|
probably benign |
Het |
| Lrrc28 |
T |
C |
7: 67,267,731 (GRCm39) |
|
probably benign |
Het |
| Madd |
T |
G |
2: 91,008,381 (GRCm39) |
T174P |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,349,318 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
A |
G |
1: 20,873,796 (GRCm39) |
S775P |
possibly damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,994 (GRCm39) |
A1393T |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,374,295 (GRCm39) |
A541V |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,455,063 (GRCm39) |
Q2578* |
probably null |
Het |
| Nlrp4f |
T |
A |
13: 65,342,548 (GRCm39) |
T366S |
probably benign |
Het |
| Oma1 |
C |
T |
4: 103,182,309 (GRCm39) |
R271* |
probably null |
Het |
| Or10ak12 |
C |
T |
4: 118,666,696 (GRCm39) |
V122M |
probably benign |
Het |
| Or2g25 |
A |
G |
17: 37,970,363 (GRCm39) |
L287P |
probably damaging |
Het |
| Or4c111 |
G |
T |
2: 88,843,547 (GRCm39) |
T287N |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,903,688 (GRCm39) |
F1058S |
possibly damaging |
Het |
| Psen2 |
T |
A |
1: 180,062,626 (GRCm39) |
M239L |
probably damaging |
Het |
| Psme3ip1 |
A |
G |
8: 95,315,394 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,570,876 (GRCm39) |
I794T |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,187,861 (GRCm39) |
E506G |
probably damaging |
Het |
| Rnpepl1 |
C |
T |
1: 92,843,629 (GRCm39) |
P250S |
probably damaging |
Het |
| Sfr1 |
G |
A |
19: 47,721,227 (GRCm39) |
|
probably benign |
Het |
| Skic8 |
T |
C |
9: 54,635,545 (GRCm39) |
I19V |
probably damaging |
Het |
| Tmem184a |
T |
C |
5: 139,798,832 (GRCm39) |
E39G |
probably benign |
Het |
| Trim66 |
C |
T |
7: 109,076,837 (GRCm39) |
|
probably benign |
Het |
| Ugt2b35 |
A |
G |
5: 87,149,004 (GRCm39) |
Y85C |
possibly damaging |
Het |
| Uts2r |
G |
T |
11: 121,051,213 (GRCm39) |
G26C |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,611 (GRCm39) |
E308D |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation