Incidental Mutation 'R1117:Fmo4'
| ID |
97380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmo4
|
| Ensembl Gene |
ENSMUSG00000026692 |
| Gene Name |
flavin containing monooxygenase 4 |
| Synonyms |
|
| MMRRC Submission |
039190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R1117 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
162620757-162641541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 162631232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 245
(V245A)
|
| 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: V245A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000028014
Gene: ENSMUSG00000026692
AA Change: V245A
| 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: V245A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000107150
Gene: ENSMUSG00000026692
AA Change: V245A
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
G |
A |
10: 83,344,487 (GRCm39) |
T353I |
probably benign |
Het |
| Arpc1b |
T |
C |
5: 145,062,564 (GRCm39) |
V226A |
possibly damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,052 (GRCm39) |
T451K |
probably damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,085 (GRCm39) |
V327M |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,985 (GRCm39) |
E465G |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,645,260 (GRCm39) |
D412G |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,819,846 (GRCm39) |
N281K |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,258,641 (GRCm39) |
Q465R |
probably damaging |
Het |
| Cyp2c68 |
G |
A |
19: 39,700,903 (GRCm39) |
T305M |
probably damaging |
Het |
| Elp4 |
T |
C |
2: 105,672,656 (GRCm39) |
D143G |
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,428,212 (GRCm39) |
I462M |
probably benign |
Het |
| Gm4076 |
A |
G |
13: 85,275,437 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Kcnj15 |
G |
A |
16: 95,096,484 (GRCm39) |
M8I |
probably benign |
Het |
| Klk1b22 |
A |
T |
7: 43,766,283 (GRCm39) |
M255L |
probably benign |
Het |
| Mmrn1 |
T |
A |
6: 60,953,309 (GRCm39) |
I530K |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,920 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
A |
C |
14: 19,813,732 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
T |
C |
9: 39,934,058 (GRCm39) |
F123S |
probably damaging |
Het |
| Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,641 (GRCm39) |
K234E |
possibly damaging |
Het |
| Peak1 |
G |
A |
9: 56,165,702 (GRCm39) |
T742M |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,329,949 (GRCm39) |
T469S |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,865,340 (GRCm39) |
Y659C |
probably damaging |
Het |
| Slc19a2 |
A |
T |
1: 164,091,025 (GRCm39) |
I278F |
possibly damaging |
Het |
| Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,707,717 (GRCm39) |
D1079G |
probably damaging |
Het |
| Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
| Umod |
T |
C |
7: 119,076,529 (GRCm39) |
N79S |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,923,382 (GRCm39) |
T43A |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTACATGCACATATAGAACTCCACTGATAA -3'
(R):5'- AAACTACCAGACCAGAGCctgaaga -3'
Sequencing Primer
(F):5'- CCATGGAATGAAAACTCAAGTACC -3'
(R):5'- gccccaaataaacaaggtagag -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation