Incidental Mutation 'R9467:Fmo4'
ID |
715186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmo4
|
Ensembl Gene |
ENSMUSG00000026692 |
Gene Name |
flavin containing monooxygenase 4 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R9467 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
162620757-162641541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 162631238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 243
(V243A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028014
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028014]
[ENSMUST00000111525]
[ENSMUST00000140274]
[ENSMUST00000144916]
|
AlphaFold |
Q8VHG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028014
AA Change: V243A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028014 Gene: ENSMUSG00000026692 AA Change: V243A
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: V243A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107150 Gene: ENSMUSG00000026692 AA Change: V243A
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
C |
2: 68,423,934 (GRCm39) |
M46L |
|
Het |
Aars2 |
A |
G |
17: 45,827,410 (GRCm39) |
E484G |
probably benign |
Het |
Abcd2 |
C |
T |
15: 91,075,825 (GRCm39) |
|
probably benign |
Het |
Acap2 |
A |
G |
16: 30,929,901 (GRCm39) |
S361P |
possibly damaging |
Het |
Arap2 |
T |
C |
5: 62,887,900 (GRCm39) |
E482G |
probably benign |
Het |
Axin2 |
G |
T |
11: 108,833,782 (GRCm39) |
L576F |
possibly damaging |
Het |
B4galt2 |
T |
A |
4: 117,738,123 (GRCm39) |
Y161F |
probably damaging |
Het |
Cdh3 |
A |
T |
8: 107,266,425 (GRCm39) |
|
probably null |
Het |
Cfap61 |
A |
T |
2: 145,971,149 (GRCm39) |
I920F |
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,681,394 (GRCm39) |
I4T |
probably benign |
Het |
Clptm1 |
T |
C |
7: 19,371,449 (GRCm39) |
N328S |
probably benign |
Het |
Cthrc1 |
A |
G |
15: 38,947,689 (GRCm39) |
N136S |
probably benign |
Het |
Dlec1 |
G |
T |
9: 118,971,652 (GRCm39) |
R1279L |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,366,293 (GRCm39) |
T2669S |
possibly damaging |
Het |
Efcab14 |
C |
A |
4: 115,610,208 (GRCm39) |
L190I |
probably damaging |
Het |
Eml6 |
A |
T |
11: 29,769,076 (GRCm39) |
C690S |
probably damaging |
Het |
Fignl1 |
T |
C |
11: 11,751,483 (GRCm39) |
E524G |
probably damaging |
Het |
Ghr |
A |
G |
15: 3,357,506 (GRCm39) |
V254A |
probably benign |
Het |
Igkv8-28 |
A |
G |
6: 70,120,691 (GRCm39) |
V84A |
probably damaging |
Het |
Itgb7 |
T |
C |
15: 102,131,989 (GRCm39) |
D198G |
probably damaging |
Het |
Klra2 |
A |
G |
6: 131,197,070 (GRCm39) |
|
probably null |
Het |
Klrc2 |
A |
T |
6: 129,633,363 (GRCm39) |
Y230N |
probably damaging |
Het |
Lacc1 |
A |
G |
14: 77,267,024 (GRCm39) |
V413A |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,508,331 (GRCm39) |
N6355S |
probably benign |
Het |
Ncor1 |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
11: 62,324,437 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
CTG |
CTGGTG |
11: 62,324,448 (GRCm39) |
|
probably benign |
Het |
Ndn |
A |
G |
7: 61,998,903 (GRCm39) |
K250E |
possibly damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nt5e |
A |
G |
9: 88,249,416 (GRCm39) |
E450G |
probably benign |
Het |
Or4d6 |
A |
T |
19: 12,086,313 (GRCm39) |
M199K |
possibly damaging |
Het |
Or5p75-ps1 |
T |
A |
7: 108,107,790 (GRCm39) |
*176K |
probably null |
Het |
Or8k16 |
G |
T |
2: 85,520,626 (GRCm39) |
M284I |
|
Het |
Palld |
A |
G |
8: 61,968,264 (GRCm39) |
S1343P |
unknown |
Het |
Pcdha8 |
T |
A |
18: 37,126,843 (GRCm39) |
S442T |
possibly damaging |
Het |
Pole2 |
T |
C |
12: 69,255,719 (GRCm39) |
I349V |
probably benign |
Het |
Ptprb |
C |
T |
10: 116,158,390 (GRCm39) |
T487M |
probably benign |
Het |
Ptprc |
C |
T |
1: 137,993,960 (GRCm39) |
D1020N |
probably damaging |
Het |
Relch |
C |
T |
1: 105,669,039 (GRCm39) |
T1023I |
probably damaging |
Het |
Rnf26rt |
C |
T |
6: 76,473,615 (GRCm39) |
E334K |
probably benign |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGACGGCGGCG |
7: 97,229,120 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,571,490 (GRCm39) |
N4916S |
possibly damaging |
Het |
Selp |
C |
T |
1: 163,957,674 (GRCm39) |
P268S |
probably damaging |
Het |
Sema7a |
T |
A |
9: 57,864,608 (GRCm39) |
C333S |
probably damaging |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Sh2b1 |
CAGCCACGGGGACCAGCT |
CAGCCACGGGGACCAGCTAAGCCACGGGGACCAGCT |
7: 126,066,754 (GRCm39) |
|
probably null |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Shisa5 |
G |
A |
9: 108,867,712 (GRCm39) |
|
probably benign |
Het |
Snx27 |
A |
G |
3: 94,489,723 (GRCm39) |
V45A |
possibly damaging |
Het |
Srcap |
T |
C |
7: 127,139,531 (GRCm39) |
V1284A |
probably damaging |
Het |
Ssrp1 |
A |
G |
2: 84,872,610 (GRCm39) |
D416G |
probably damaging |
Het |
Tcstv1b |
C |
T |
13: 120,634,061 (GRCm39) |
|
probably benign |
Het |
Tectb |
A |
G |
19: 55,181,093 (GRCm39) |
Y144C |
|
Het |
Thap12 |
G |
T |
7: 98,359,348 (GRCm39) |
V76F |
probably damaging |
Het |
Ticam2 |
G |
C |
18: 46,693,748 (GRCm39) |
P113R |
probably damaging |
Het |
Tsg101 |
A |
G |
7: 46,558,772 (GRCm39) |
Y80H |
probably benign |
Het |
Unc5cl |
T |
A |
17: 48,770,656 (GRCm39) |
M368K |
probably damaging |
Het |
Utp20 |
G |
T |
10: 88,640,390 (GRCm39) |
Q717K |
possibly damaging |
Het |
Vmn1r159 |
T |
A |
7: 22,542,141 (GRCm39) |
D297V |
possibly damaging |
Het |
Vmn2r98 |
G |
T |
17: 19,287,517 (GRCm39) |
S450I |
probably benign |
Het |
Zbtb8b |
T |
C |
4: 129,326,319 (GRCm39) |
E282G |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,486,789 (GRCm39) |
V488A |
probably benign |
Het |
Zng1 |
T |
A |
19: 24,930,684 (GRCm39) |
M122L |
possibly damaging |
Het |
Zzef1 |
G |
A |
11: 72,807,251 (GRCm39) |
V2710I |
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 |
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 |
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'- GCTACATGCACATATAGAACTCCACTG -3'
(R):5'- TGCCAGACCAACATATTATAGCTAC -3'
Sequencing Primer
(F):5'- CTCAAGTACCCTTTTGCAATG -3'
(R):5'- CATATGGTCACACACAAGTCTATG -3'
|
Posted On |
2022-06-15 |