Incidental Mutation 'IGL02089:Fmo4'
ID |
279380 |
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: 0.093)
|
Stock # |
IGL02089
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
162620757-162641541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 162626649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 299
(T299N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028014]
[ENSMUST00000111525]
|
AlphaFold |
Q8VHG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028014
AA Change: T299N
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000028014 Gene: ENSMUSG00000026692 AA Change: T299N
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: T299N
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000107150 Gene: ENSMUSG00000026692 AA Change: T299N
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
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330160F10Rik |
C |
T |
11: 68,951,013 (GRCm39) |
|
silent |
Het |
Adck1 |
G |
T |
12: 88,413,480 (GRCm39) |
V271F |
probably damaging |
Het |
Aggf1 |
T |
C |
13: 95,507,437 (GRCm39) |
D116G |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,505,853 (GRCm39) |
V661E |
probably damaging |
Het |
Apoa5 |
T |
C |
9: 46,180,437 (GRCm39) |
|
probably null |
Het |
Atp8a2 |
C |
T |
14: 60,264,369 (GRCm39) |
|
probably null |
Het |
Bnipl |
A |
T |
3: 95,157,577 (GRCm39) |
|
probably benign |
Het |
Cbs |
T |
G |
17: 31,834,519 (GRCm39) |
D490A |
probably benign |
Het |
Chrdl1 |
G |
T |
X: 142,086,510 (GRCm39) |
H199N |
possibly damaging |
Het |
Dcaf1 |
C |
T |
9: 106,740,310 (GRCm39) |
T1232I |
probably benign |
Het |
Ddx19b |
T |
C |
8: 111,735,477 (GRCm39) |
|
probably benign |
Het |
Ephb4 |
A |
G |
5: 137,369,024 (GRCm39) |
K805E |
probably damaging |
Het |
Ergic3 |
A |
G |
2: 155,852,395 (GRCm39) |
N135D |
probably benign |
Het |
Fbxw18 |
C |
T |
9: 109,530,390 (GRCm39) |
V74I |
probably benign |
Het |
Gmeb1 |
T |
C |
4: 131,953,147 (GRCm39) |
K540E |
probably damaging |
Het |
H60c |
T |
A |
10: 3,209,826 (GRCm39) |
S154C |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,388,151 (GRCm39) |
L3812S |
probably damaging |
Het |
Hipk3 |
T |
C |
2: 104,261,724 (GRCm39) |
D937G |
probably damaging |
Het |
Ift122 |
A |
G |
6: 115,902,398 (GRCm39) |
D1079G |
probably benign |
Het |
Il6st |
T |
C |
13: 112,631,774 (GRCm39) |
W438R |
probably benign |
Het |
Lypla2 |
C |
T |
4: 135,696,932 (GRCm39) |
V117I |
probably benign |
Het |
Mapk8ip1 |
T |
C |
2: 92,216,220 (GRCm39) |
Y516C |
probably damaging |
Het |
Mmp24 |
G |
A |
2: 155,654,213 (GRCm39) |
G397D |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,570,131 (GRCm39) |
S397N |
possibly damaging |
Het |
Muc5b |
T |
G |
7: 141,416,987 (GRCm39) |
V3311G |
probably benign |
Het |
Naca |
A |
G |
10: 127,872,358 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
G |
17: 91,395,829 (GRCm39) |
V109A |
probably benign |
Het |
Nup210 |
T |
G |
6: 91,053,680 (GRCm39) |
D279A |
probably benign |
Het |
Or10g6 |
A |
T |
9: 39,934,066 (GRCm39) |
I126F |
probably damaging |
Het |
Or8h7 |
A |
G |
2: 86,721,460 (GRCm39) |
S20P |
possibly damaging |
Het |
Pappa |
T |
A |
4: 65,074,361 (GRCm39) |
V305E |
possibly damaging |
Het |
Pcdh19 |
A |
T |
X: 132,489,245 (GRCm39) |
M977K |
probably benign |
Het |
Pdzph1 |
T |
A |
17: 59,274,334 (GRCm39) |
I837F |
possibly damaging |
Het |
Phip |
A |
T |
9: 82,753,372 (GRCm39) |
L1791M |
probably damaging |
Het |
Pkdrej |
C |
T |
15: 85,700,489 (GRCm39) |
V1816I |
possibly damaging |
Het |
Ptprz1 |
G |
A |
6: 23,033,447 (GRCm39) |
V1063M |
probably damaging |
Het |
Qprt |
A |
T |
7: 126,707,528 (GRCm39) |
M220K |
probably damaging |
Het |
R3hcc1 |
T |
C |
14: 69,937,475 (GRCm39) |
K391E |
possibly damaging |
Het |
Rbbp7 |
C |
A |
X: 161,554,052 (GRCm39) |
P162Q |
probably benign |
Het |
Rev3l |
A |
T |
10: 39,701,095 (GRCm39) |
N1864I |
probably damaging |
Het |
Rims1 |
A |
G |
1: 22,669,556 (GRCm39) |
I84T |
possibly damaging |
Het |
Rnase2b |
A |
T |
14: 51,400,240 (GRCm39) |
K107I |
probably benign |
Het |
Sbf1 |
C |
A |
15: 89,186,708 (GRCm39) |
E864* |
probably null |
Het |
Strip2 |
G |
A |
6: 29,917,179 (GRCm39) |
|
probably benign |
Het |
Stx4a |
T |
C |
7: 127,447,570 (GRCm39) |
I238T |
probably damaging |
Het |
Tbc1d2b |
C |
T |
9: 90,104,412 (GRCm39) |
V577I |
possibly damaging |
Het |
Tex38 |
T |
C |
4: 115,637,591 (GRCm39) |
T71A |
possibly damaging |
Het |
Usp38 |
T |
C |
8: 81,712,343 (GRCm39) |
E564G |
possibly damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
Wwp2 |
T |
A |
8: 108,280,689 (GRCm39) |
L644Q |
probably damaging |
Het |
Zfp267 |
T |
C |
3: 36,218,877 (GRCm39) |
F300S |
possibly damaging |
Het |
Zpld1 |
A |
G |
16: 55,071,974 (GRCm39) |
I95T |
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 |
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 |
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 |