Incidental Mutation 'R2363:Fmo3'
| ID |
247204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmo3
|
| Ensembl Gene |
ENSMUSG00000026691 |
| Gene Name |
flavin containing monooxygenase 3 |
| Synonyms |
|
| MMRRC Submission |
040344-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2363 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
162781369-162812097 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 162781884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 490
(W490R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028010]
|
| AlphaFold |
P97501 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028010
AA Change: W490R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028010
Gene: ENSMUSG00000026691
AA Change: W490R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
2 |
534 |
7.7e-286 |
PFAM |
|
Pfam:Pyr_redox_2
|
3 |
245 |
4.4e-15 |
PFAM |
|
Pfam:Pyr_redox_3
|
6 |
220 |
1.1e-11 |
PFAM |
|
Pfam:NAD_binding_8
|
7 |
71 |
3.1e-7 |
PFAM |
|
Pfam:K_oxygenase
|
79 |
224 |
6.7e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.3375 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
C |
2: 103,397,528 (GRCm39) |
C153R |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,596,650 (GRCm39) |
|
probably null |
Het |
| Adpgk |
G |
T |
9: 59,222,136 (GRCm39) |
M354I |
probably benign |
Het |
| Atmin |
G |
T |
8: 117,681,653 (GRCm39) |
|
probably null |
Het |
| C1rl |
G |
A |
6: 124,486,069 (GRCm39) |
G480D |
probably benign |
Het |
| C4b |
G |
A |
17: 34,955,032 (GRCm39) |
|
probably benign |
Het |
| Cacnb1 |
G |
A |
11: 97,903,672 (GRCm39) |
T127I |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,210 (GRCm39) |
V1626E |
probably benign |
Het |
| Cndp2 |
C |
T |
18: 84,686,694 (GRCm39) |
G443S |
probably damaging |
Het |
| Crb1 |
A |
G |
1: 139,265,016 (GRCm39) |
I134T |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,535,276 (GRCm39) |
|
probably null |
Het |
| Enam |
C |
T |
5: 88,651,008 (GRCm39) |
P764L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbln1 |
G |
A |
15: 85,111,341 (GRCm39) |
|
probably null |
Het |
| Flnb |
A |
G |
14: 7,945,950 (GRCm38) |
I2452V |
possibly damaging |
Het |
| Gabrb1 |
C |
T |
5: 72,026,916 (GRCm39) |
R106* |
probably null |
Het |
| Galnt4 |
C |
T |
10: 98,944,923 (GRCm39) |
T216I |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Golph3 |
A |
G |
15: 12,349,649 (GRCm39) |
D223G |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,151,473 (GRCm39) |
F905I |
possibly damaging |
Het |
| Il23r |
T |
C |
6: 67,429,401 (GRCm39) |
T314A |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,998,857 (GRCm39) |
W90R |
probably damaging |
Het |
| Maml2 |
C |
T |
9: 13,532,541 (GRCm39) |
T585I |
probably damaging |
Het |
| Mpp3 |
G |
A |
11: 101,911,312 (GRCm39) |
A170V |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,928 (GRCm39) |
K44N |
possibly damaging |
Het |
| Or10aa3 |
C |
T |
1: 173,878,814 (GRCm39) |
R292C |
probably damaging |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or1e17 |
A |
G |
11: 73,831,182 (GRCm39) |
T37A |
possibly damaging |
Het |
| Or4k51 |
C |
T |
2: 111,585,139 (GRCm39) |
P182S |
probably damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,267 (GRCm39) |
M207K |
probably benign |
Het |
| Or6f2 |
A |
G |
7: 139,756,878 (GRCm39) |
T282A |
probably damaging |
Het |
| Or7e165 |
T |
G |
9: 19,694,892 (GRCm39) |
I154M |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,279,394 (GRCm39) |
I174T |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,535,521 (GRCm39) |
V204E |
probably benign |
Het |
| Pcdhb10 |
T |
A |
18: 37,547,190 (GRCm39) |
C755* |
probably null |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,725 (GRCm39) |
Y417C |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,355,341 (GRCm39) |
W723L |
probably benign |
Het |
| Plin1 |
C |
T |
7: 79,376,139 (GRCm39) |
|
probably null |
Het |
| Polr3a |
A |
T |
14: 24,525,960 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
T |
10: 58,314,758 (GRCm39) |
K1826I |
possibly damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,626,608 (GRCm39) |
I970V |
possibly damaging |
Het |
| Rdx |
C |
A |
9: 51,980,173 (GRCm39) |
F255L |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,267,447 (GRCm39) |
H1011L |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,614,868 (GRCm39) |
D326G |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,966 (GRCm39) |
E909G |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,047,697 (GRCm39) |
V1015D |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,920 (GRCm39) |
Y629N |
probably damaging |
Het |
| Triml1 |
A |
G |
8: 43,594,408 (GRCm39) |
S8P |
probably damaging |
Het |
|
| Other mutations in Fmo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00975:Fmo3
|
APN |
1 |
162,791,599 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01124:Fmo3
|
APN |
1 |
162,785,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01645:Fmo3
|
APN |
1 |
162,791,575 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01710:Fmo3
|
APN |
1 |
162,810,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01943:Fmo3
|
APN |
1 |
162,794,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02489:Fmo3
|
APN |
1 |
162,781,856 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02503:Fmo3
|
APN |
1 |
162,796,433 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02743:Fmo3
|
APN |
1 |
162,786,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Fmo3
|
APN |
1 |
162,810,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03023:Fmo3
|
APN |
1 |
162,786,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0554:Fmo3
|
UTSW |
1 |
162,781,901 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0629:Fmo3
|
UTSW |
1 |
162,785,796 (GRCm39) |
splice site |
probably benign |
|
|
R1209:Fmo3
|
UTSW |
1 |
162,791,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1213:Fmo3
|
UTSW |
1 |
162,795,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1612:Fmo3
|
UTSW |
1 |
162,795,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1636:Fmo3
|
UTSW |
1 |
162,781,994 (GRCm39) |
missense |
probably benign |
|
|
R1710:Fmo3
|
UTSW |
1 |
162,795,356 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1764:Fmo3
|
UTSW |
1 |
162,786,142 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1775:Fmo3
|
UTSW |
1 |
162,796,294 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1906:Fmo3
|
UTSW |
1 |
162,794,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Fmo3
|
UTSW |
1 |
162,794,527 (GRCm39) |
missense |
probably benign |
|
|
R2519:Fmo3
|
UTSW |
1 |
162,785,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3940:Fmo3
|
UTSW |
1 |
162,791,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3977:Fmo3
|
UTSW |
1 |
162,786,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4779:Fmo3
|
UTSW |
1 |
162,796,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4846:Fmo3
|
UTSW |
1 |
162,781,880 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4892:Fmo3
|
UTSW |
1 |
162,796,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5102:Fmo3
|
UTSW |
1 |
162,791,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5516:Fmo3
|
UTSW |
1 |
162,781,995 (GRCm39) |
nonsense |
probably null |
|
|
R6035:Fmo3
|
UTSW |
1 |
162,791,605 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6035:Fmo3
|
UTSW |
1 |
162,791,605 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7050:Fmo3
|
UTSW |
1 |
162,791,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7088:Fmo3
|
UTSW |
1 |
162,796,434 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7205:Fmo3
|
UTSW |
1 |
162,781,857 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7371:Fmo3
|
UTSW |
1 |
162,781,796 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7685:Fmo3
|
UTSW |
1 |
162,785,901 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8458:Fmo3
|
UTSW |
1 |
162,794,509 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8821:Fmo3
|
UTSW |
1 |
162,796,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9371:Fmo3
|
UTSW |
1 |
162,796,281 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9564:Fmo3
|
UTSW |
1 |
162,786,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9764:Fmo3
|
UTSW |
1 |
162,794,524 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGCAAAAGATCTTGAACAGG -3'
(R):5'- TGGATGAACTGGCCTCCTTC -3'
Sequencing Primer
(F):5'- AATAGCAAAGTTCTTGTCTGGTTG -3'
(R):5'- TTCATTGGTGCAAAGCCCAATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation