Incidental Mutation 'R5786:Fmo4'
ID |
447990 |
Institutional Source |
Beutler Lab
|
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 # |
R5786 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
162620757-162641541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 162631286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 227
(G227D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028014]
[ENSMUST00000111525]
[ENSMUST00000140274]
[ENSMUST00000144916]
|
AlphaFold |
Q8VHG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028014
AA Change: G227D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000028014 Gene: ENSMUSG00000026692 AA Change: G227D
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: G227D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000107150 Gene: ENSMUSG00000026692 AA Change: G227D
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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
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 |
1810009J06Rik |
T |
A |
6: 40,945,122 (GRCm39) |
D200E |
probably damaging |
Het |
4930578I06Rik |
C |
A |
14: 64,210,691 (GRCm39) |
R179L |
probably damaging |
Het |
Abhd5 |
A |
G |
9: 122,192,868 (GRCm39) |
|
probably null |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
Apob |
C |
T |
12: 8,065,304 (GRCm39) |
T4091I |
possibly damaging |
Het |
Avil |
G |
A |
10: 126,852,368 (GRCm39) |
|
probably null |
Het |
Cacna1a |
T |
C |
8: 85,142,350 (GRCm39) |
|
probably benign |
Het |
Capn7 |
T |
C |
14: 31,082,102 (GRCm39) |
L436P |
probably damaging |
Het |
Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
Ccr6 |
T |
C |
17: 8,475,244 (GRCm39) |
S150P |
probably damaging |
Het |
Cd1d1 |
T |
C |
3: 86,906,095 (GRCm39) |
N60S |
probably benign |
Het |
Ckap5 |
A |
G |
2: 91,446,641 (GRCm39) |
|
probably null |
Het |
Col15a1 |
A |
G |
4: 47,280,865 (GRCm39) |
E753G |
possibly damaging |
Het |
Col1a2 |
C |
T |
6: 4,530,223 (GRCm39) |
R699W |
unknown |
Het |
Cracd |
T |
C |
5: 77,014,043 (GRCm39) |
|
probably null |
Het |
Csf2rb |
T |
C |
15: 78,233,155 (GRCm39) |
Y821H |
probably damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,799,284 (GRCm39) |
I301T |
possibly damaging |
Het |
Dpp3 |
C |
T |
19: 4,968,350 (GRCm39) |
G241R |
possibly damaging |
Het |
Dpyd |
G |
T |
3: 119,220,886 (GRCm39) |
M952I |
probably damaging |
Het |
Dsg3 |
A |
T |
18: 20,654,628 (GRCm39) |
I111L |
possibly damaging |
Het |
Ect2 |
A |
G |
3: 27,201,102 (GRCm39) |
F123L |
probably damaging |
Het |
Ehmt2 |
G |
C |
17: 35,129,719 (GRCm39) |
D961H |
probably damaging |
Het |
Esp1 |
A |
G |
17: 41,041,809 (GRCm39) |
I34V |
probably benign |
Het |
Fam171b |
G |
A |
2: 83,708,580 (GRCm39) |
V361I |
probably benign |
Het |
Flnc |
T |
A |
6: 29,459,536 (GRCm39) |
Y2545* |
probably null |
Het |
Grn |
C |
T |
11: 102,324,869 (GRCm39) |
Q153* |
probably null |
Het |
H2-DMb1 |
T |
G |
17: 34,372,408 (GRCm39) |
S12R |
possibly damaging |
Het |
Ica1 |
G |
T |
6: 8,672,391 (GRCm39) |
N203K |
possibly damaging |
Het |
Kdm4c |
C |
A |
4: 74,277,722 (GRCm39) |
T792K |
probably damaging |
Het |
Kif19a |
T |
A |
11: 114,670,049 (GRCm39) |
Y81* |
probably null |
Het |
Kifc2 |
G |
T |
15: 76,548,578 (GRCm39) |
C440F |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,537,268 (GRCm39) |
T234A |
probably benign |
Het |
Lysmd2 |
C |
A |
9: 75,542,885 (GRCm39) |
P164Q |
probably benign |
Het |
Maea |
T |
A |
5: 33,526,027 (GRCm39) |
D234E |
probably benign |
Het |
Map4k1 |
T |
A |
7: 28,699,445 (GRCm39) |
V572E |
probably damaging |
Het |
Med6 |
C |
T |
12: 81,620,733 (GRCm39) |
G166R |
probably null |
Het |
Mtmr10 |
T |
C |
7: 63,987,458 (GRCm39) |
I666T |
probably damaging |
Het |
Myh14 |
T |
A |
7: 44,262,887 (GRCm39) |
K1777M |
probably benign |
Het |
Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
Obscn |
A |
G |
11: 58,923,517 (GRCm39) |
S6461P |
probably damaging |
Het |
Or1j4 |
T |
C |
2: 36,740,061 (GRCm39) |
M1T |
probably null |
Het |
Osbpl7 |
T |
A |
11: 96,956,658 (GRCm39) |
V567E |
probably damaging |
Het |
Rad51ap2 |
A |
T |
12: 11,506,921 (GRCm39) |
D281V |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpl24 |
C |
A |
16: 55,787,516 (GRCm39) |
H59N |
possibly damaging |
Het |
Rtl1 |
G |
A |
12: 109,559,053 (GRCm39) |
L929F |
possibly damaging |
Het |
Runx3 |
C |
T |
4: 134,890,575 (GRCm39) |
T159I |
probably damaging |
Het |
Serpine2 |
T |
C |
1: 79,794,637 (GRCm39) |
I99V |
probably benign |
Het |
Slc12a6 |
C |
A |
2: 112,115,067 (GRCm39) |
P12Q |
probably benign |
Het |
Slc25a18 |
T |
C |
6: 120,769,035 (GRCm39) |
L184P |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,812,120 (GRCm39) |
D57G |
probably benign |
Het |
Spdye4c |
T |
A |
2: 128,438,761 (GRCm39) |
*340K |
probably null |
Het |
Srsf5 |
G |
A |
12: 80,996,311 (GRCm39) |
E162K |
possibly damaging |
Het |
Ssc5d |
T |
C |
7: 4,939,817 (GRCm39) |
V751A |
probably benign |
Het |
Tcf3 |
T |
C |
10: 80,255,333 (GRCm39) |
N157S |
probably benign |
Het |
Tdrd7 |
T |
C |
4: 45,989,082 (GRCm39) |
V71A |
probably benign |
Het |
Tex14 |
T |
C |
11: 87,405,121 (GRCm39) |
C678R |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,868,704 (GRCm39) |
K214* |
probably null |
Het |
Vps53 |
A |
G |
11: 75,953,833 (GRCm39) |
I659T |
probably benign |
Het |
Zfp597 |
A |
T |
16: 3,684,023 (GRCm39) |
C244* |
probably null |
Het |
Zfp933 |
T |
A |
4: 147,912,864 (GRCm39) |
|
probably null |
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 |
|
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'- TACATGCACATATAGAACTCCACTG -3'
(R):5'- TGCCAGACCAACATATTATAGCTAC -3'
Sequencing Primer
(F):5'- TGAACTGAAGTTTTTCCATGGAATG -3'
(R):5'- GGTCACACACAAGTCTATG -3'
|
Posted On |
2016-12-15 |