Incidental Mutation 'R5445:Fmo4'
ID |
427375 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmo4
|
Ensembl Gene |
ENSMUSG00000026692 |
Gene Name |
flavin containing monooxygenase 4 |
Synonyms |
|
MMRRC Submission |
043010-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R5445 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
162620757-162641541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 162632842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 170
(I170F)
|
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: I170F
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000028014 Gene: ENSMUSG00000026692 AA Change: I170F
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: I170F
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000107150 Gene: ENSMUSG00000026692 AA Change: I170F
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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,978,557 (GRCm39) |
D300E |
probably damaging |
Het |
Apbb1ip |
T |
C |
2: 22,725,960 (GRCm39) |
V244A |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,159,678 (GRCm39) |
S232P |
probably benign |
Het |
Atf7ip |
G |
A |
6: 136,564,255 (GRCm39) |
V833M |
probably damaging |
Het |
Casp7 |
A |
G |
19: 56,421,770 (GRCm39) |
|
probably null |
Het |
Ccdc9b |
T |
C |
2: 118,590,067 (GRCm39) |
D259G |
probably damaging |
Het |
Celsr2 |
T |
A |
3: 108,299,974 (GRCm39) |
E2911D |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,770,469 (GRCm39) |
D1807G |
probably benign |
Het |
Cfap251 |
C |
T |
5: 123,425,240 (GRCm39) |
T294M |
probably damaging |
Het |
Chrd |
A |
G |
16: 20,557,660 (GRCm39) |
T753A |
possibly damaging |
Het |
Clasp2 |
A |
G |
9: 113,733,014 (GRCm39) |
D971G |
probably damaging |
Het |
Cnnm2 |
A |
G |
19: 46,865,727 (GRCm39) |
T772A |
possibly damaging |
Het |
Cntn1 |
A |
T |
15: 92,192,958 (GRCm39) |
N687Y |
probably damaging |
Het |
Col6a3 |
G |
A |
1: 90,709,761 (GRCm39) |
R1812* |
probably null |
Het |
Dsc2 |
T |
C |
18: 20,168,360 (GRCm39) |
I700V |
possibly damaging |
Het |
Flt3 |
G |
A |
5: 147,291,905 (GRCm39) |
Q540* |
probably null |
Het |
Fra10ac1 |
T |
A |
19: 38,207,910 (GRCm39) |
D72V |
possibly damaging |
Het |
Garin2 |
G |
A |
12: 78,761,890 (GRCm39) |
E185K |
probably damaging |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Gm2381 |
T |
G |
7: 42,469,425 (GRCm39) |
H233P |
probably damaging |
Het |
Gm5148 |
T |
A |
3: 37,768,995 (GRCm39) |
Q75L |
probably damaging |
Het |
Gm8369 |
T |
C |
19: 11,482,170 (GRCm39) |
V27A |
possibly damaging |
Het |
Gpr157 |
T |
C |
4: 150,186,825 (GRCm39) |
S318P |
probably benign |
Het |
Hectd4 |
G |
A |
5: 121,404,337 (GRCm39) |
V405M |
probably benign |
Het |
Hemgn |
T |
C |
4: 46,400,738 (GRCm39) |
R41G |
probably benign |
Het |
Hhipl1 |
T |
A |
12: 108,294,467 (GRCm39) |
L791Q |
probably damaging |
Het |
Hjurp |
T |
G |
1: 88,194,038 (GRCm39) |
K290T |
probably benign |
Het |
Ifi207 |
T |
C |
1: 173,555,363 (GRCm39) |
E773G |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,914,685 (GRCm39) |
Y697H |
probably damaging |
Het |
Lonrf2 |
T |
C |
1: 38,846,234 (GRCm39) |
T313A |
probably benign |
Het |
Lrba |
G |
T |
3: 86,275,902 (GRCm39) |
V1757L |
probably benign |
Het |
Lrrc24 |
T |
C |
15: 76,600,306 (GRCm39) |
T278A |
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,856,428 (GRCm39) |
I679V |
probably null |
Het |
Mapk4 |
G |
T |
18: 74,064,073 (GRCm39) |
T383K |
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mia3 |
A |
G |
1: 183,117,471 (GRCm39) |
V208A |
probably benign |
Het |
Myo15a |
C |
A |
11: 60,411,603 (GRCm39) |
C3234* |
probably null |
Het |
Nlrp1b |
G |
T |
11: 71,108,701 (GRCm39) |
Q267K |
probably benign |
Het |
Nphp3 |
A |
G |
9: 103,881,922 (GRCm39) |
K37E |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,962,681 (GRCm39) |
M755T |
probably damaging |
Het |
Or10u4 |
T |
A |
10: 129,802,158 (GRCm39) |
H137L |
probably benign |
Het |
Or52ac1 |
A |
G |
7: 104,246,028 (GRCm39) |
F120S |
probably damaging |
Het |
Or5p58 |
A |
G |
7: 107,693,949 (GRCm39) |
V276A |
possibly damaging |
Het |
Pdlim5 |
C |
T |
3: 142,058,495 (GRCm39) |
R83K |
probably null |
Het |
Plekha5 |
A |
T |
6: 140,498,459 (GRCm39) |
R173* |
probably null |
Het |
Pramel25 |
T |
A |
4: 143,521,707 (GRCm39) |
V441E |
possibly damaging |
Het |
Rbms3 |
T |
A |
9: 117,080,853 (GRCm39) |
D6V |
possibly damaging |
Het |
Rhoq |
A |
T |
17: 87,271,755 (GRCm39) |
Y57F |
probably benign |
Het |
Rrm1 |
A |
T |
7: 102,100,230 (GRCm39) |
T204S |
possibly damaging |
Het |
Slf1 |
A |
T |
13: 77,239,323 (GRCm39) |
I447N |
probably benign |
Het |
Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
Spdye4c |
C |
T |
2: 128,438,484 (GRCm39) |
Q281* |
probably null |
Het |
Tert |
T |
A |
13: 73,792,403 (GRCm39) |
M890K |
probably benign |
Het |
Tln1 |
C |
A |
4: 43,543,905 (GRCm39) |
R1198L |
probably benign |
Het |
Tmco4 |
A |
G |
4: 138,748,178 (GRCm39) |
M253V |
probably damaging |
Het |
Usp19 |
G |
T |
9: 108,375,119 (GRCm39) |
V782F |
possibly damaging |
Het |
Usp33 |
T |
A |
3: 152,080,260 (GRCm39) |
S464T |
probably damaging |
Het |
Usp47 |
A |
T |
7: 111,673,928 (GRCm39) |
Y397F |
probably damaging |
Het |
Vmn1r12 |
A |
G |
6: 57,136,466 (GRCm39) |
T144A |
probably benign |
Het |
Vmn2r90 |
A |
T |
17: 17,954,386 (GRCm39) |
H850L |
probably benign |
Het |
Zfhx3 |
A |
T |
8: 109,682,842 (GRCm39) |
Q3427L |
unknown |
Het |
Zfp236 |
G |
T |
18: 82,700,281 (GRCm39) |
Q63K |
probably benign |
Het |
Zfp7 |
T |
A |
15: 76,775,054 (GRCm39) |
C365* |
probably null |
Het |
Zfp786 |
T |
C |
6: 47,796,619 (GRCm39) |
E773G |
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 |
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'- GTTTGCCAATTGGGAAGGCATC -3'
(R):5'- AAGATCTGTGCTTGGGCTC -3'
Sequencing Primer
(F):5'- CCAATTGGGAAGGCATCTATTGTC -3'
(R):5'- TTGGGCTCACTCAATTCCAGGAAG -3'
|
Posted On |
2016-09-01 |