Incidental Mutation 'R0058:Fmo2'
| ID |
17325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmo2
|
| Ensembl Gene |
ENSMUSG00000040170 |
| Gene Name |
flavin containing monooxygenase 2 |
| Synonyms |
2310042I22Rik, 2310008D08Rik |
| MMRRC Submission |
038352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0058 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
162701886-162726295 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 162713893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 204
(S204R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045902]
[ENSMUST00000111510]
[ENSMUST00000143123]
|
| AlphaFold |
Q8K2I3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045902
AA Change: S204R
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000044405
Gene: ENSMUSG00000040170
AA Change: S204R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
2 |
533 |
8.7e-296 |
PFAM |
|
Pfam:Pyr_redox_2
|
3 |
230 |
6.4e-12 |
PFAM |
|
Pfam:Pyr_redox_3
|
6 |
220 |
4.4e-10 |
PFAM |
|
Pfam:K_oxygenase
|
69 |
233 |
2.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111510
AA Change: S204R
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107135
Gene: ENSMUSG00000040170
AA Change: S204R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
2 |
533 |
8.7e-296 |
PFAM |
|
Pfam:Pyr_redox_2
|
4 |
446 |
1.3e-6 |
PFAM |
|
Pfam:Pyr_redox_3
|
6 |
220 |
8e-17 |
PFAM |
|
Pfam:NAD_binding_8
|
7 |
72 |
4.3e-6 |
PFAM |
|
Pfam:K_oxygenase
|
78 |
333 |
1.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143123
|
| SMART Domains |
Protein: ENSMUSP00000114226
Gene: ENSMUSG00000040170
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
2 |
161 |
1.2e-99 |
PFAM |
|
Pfam:Pyr_redox_3
|
6 |
159 |
1.6e-8 |
PFAM |
|
Pfam:NAD_binding_8
|
7 |
80 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194061
|
| Meta Mutation Damage Score |
0.2470 |
| Coding Region Coverage |
- 1x: 87.4%
- 3x: 82.9%
- 10x: 66.9%
- 20x: 41.4%
|
| Validation Efficiency |
85% (62/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,330,791 (GRCm39) |
V6088A |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,580,691 (GRCm39) |
|
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,361,141 (GRCm39) |
Y84N |
probably damaging |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Avpr1b |
A |
G |
1: 131,527,524 (GRCm39) |
T16A |
probably benign |
Het |
| Cables1 |
A |
G |
18: 12,056,470 (GRCm39) |
E316G |
possibly damaging |
Het |
| Cadm1 |
A |
T |
9: 47,761,629 (GRCm39) |
I427L |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,097,415 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,113,121 (GRCm39) |
E1512G |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,490 (GRCm39) |
V1171M |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,018,485 (GRCm39) |
F1230Y |
probably benign |
Het |
| Dst |
T |
C |
1: 34,045,305 (GRCm39) |
S13P |
possibly damaging |
Het |
| Dym |
G |
A |
18: 75,176,243 (GRCm39) |
E15K |
possibly damaging |
Het |
| Faf1 |
A |
G |
4: 109,593,821 (GRCm39) |
Q133R |
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,738,111 (GRCm39) |
|
probably benign |
Het |
| Ghitm |
A |
G |
14: 36,853,549 (GRCm39) |
L97P |
probably damaging |
Het |
| Gins4 |
A |
G |
8: 23,719,526 (GRCm39) |
|
probably benign |
Het |
| Gm10573 |
G |
A |
4: 121,754,005 (GRCm39) |
|
|
Het |
| Golga3 |
T |
A |
5: 110,350,643 (GRCm39) |
F766Y |
possibly damaging |
Het |
| Hapln1 |
T |
C |
13: 89,755,997 (GRCm39) |
I267T |
probably benign |
Het |
| Helz |
A |
T |
11: 107,563,384 (GRCm39) |
|
probably benign |
Het |
| Igll1 |
A |
T |
16: 16,681,740 (GRCm39) |
V5E |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,699,225 (GRCm39) |
|
probably null |
Het |
| Limk1 |
A |
T |
5: 134,688,725 (GRCm39) |
W507R |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mtif3 |
C |
A |
5: 146,893,731 (GRCm39) |
V159F |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,523,537 (GRCm39) |
D887V |
probably damaging |
Het |
| Pkd1 |
G |
C |
17: 24,783,677 (GRCm39) |
A162P |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,513,628 (GRCm39) |
D309G |
possibly damaging |
Het |
| Plk4 |
T |
C |
3: 40,760,307 (GRCm39) |
V401A |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,526,453 (GRCm39) |
V253I |
unknown |
Het |
| Ranbp2 |
T |
A |
10: 58,316,353 (GRCm39) |
S2358T |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,423,494 (GRCm39) |
V2183E |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,432,953 (GRCm39) |
S232C |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,904,012 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,574,909 (GRCm39) |
I531T |
probably benign |
Het |
| Slc36a1 |
C |
T |
11: 55,112,820 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,883,708 (GRCm39) |
|
probably null |
Het |
| Tex15 |
C |
T |
8: 34,071,530 (GRCm39) |
|
probably benign |
Het |
| Tlr9 |
T |
G |
9: 106,102,164 (GRCm39) |
L485R |
possibly damaging |
Het |
| Tmem207 |
A |
G |
16: 26,343,579 (GRCm39) |
|
probably benign |
Het |
| Triml2 |
T |
C |
8: 43,638,306 (GRCm39) |
|
probably benign |
Het |
| Tspear |
T |
C |
10: 77,705,465 (GRCm39) |
F288L |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,784,869 (GRCm39) |
S559R |
possibly damaging |
Het |
|
| Other mutations in Fmo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00715:Fmo2
|
APN |
1 |
162,716,282 (GRCm39) |
nonsense |
probably null |
|
|
IGL01299:Fmo2
|
APN |
1 |
162,705,599 (GRCm39) |
missense |
probably benign |
|
|
IGL02617:Fmo2
|
APN |
1 |
162,704,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02994:Fmo2
|
APN |
1 |
162,708,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03270:Fmo2
|
APN |
1 |
162,709,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5493:Fmo2
|
UTSW |
1 |
162,708,101 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0058:Fmo2
|
UTSW |
1 |
162,713,893 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0501:Fmo2
|
UTSW |
1 |
162,704,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0658:Fmo2
|
UTSW |
1 |
162,704,343 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0800:Fmo2
|
UTSW |
1 |
162,704,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2223:Fmo2
|
UTSW |
1 |
162,725,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4360:Fmo2
|
UTSW |
1 |
162,709,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4523:Fmo2
|
UTSW |
1 |
162,715,277 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4755:Fmo2
|
UTSW |
1 |
162,716,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6087:Fmo2
|
UTSW |
1 |
162,708,002 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6219:Fmo2
|
UTSW |
1 |
162,708,085 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6668:Fmo2
|
UTSW |
1 |
162,704,617 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7042:Fmo2
|
UTSW |
1 |
162,708,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7291:Fmo2
|
UTSW |
1 |
162,715,271 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7560:Fmo2
|
UTSW |
1 |
162,716,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7580:Fmo2
|
UTSW |
1 |
162,704,613 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7657:Fmo2
|
UTSW |
1 |
162,716,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8757:Fmo2
|
UTSW |
1 |
162,708,005 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8759:Fmo2
|
UTSW |
1 |
162,708,005 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8765:Fmo2
|
UTSW |
1 |
162,707,966 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8925:Fmo2
|
UTSW |
1 |
162,704,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8927:Fmo2
|
UTSW |
1 |
162,704,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9002:Fmo2
|
UTSW |
1 |
162,705,647 (GRCm39) |
nonsense |
probably null |
|
|
R9141:Fmo2
|
UTSW |
1 |
162,709,623 (GRCm39) |
missense |
probably null |
0.01 |
|
R9486:Fmo2
|
UTSW |
1 |
162,708,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fmo2
|
UTSW |
1 |
162,725,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fmo2
|
UTSW |
1 |
162,715,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-01-20 |
Incidental Mutation