Incidental Mutation 'IGL01299:Fmo2'
| ID |
75199 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fmo2
|
| Ensembl Gene |
ENSMUSG00000040170 |
| Gene Name |
flavin containing monooxygenase 2 |
| Synonyms |
2310042I22Rik, 2310008D08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL01299
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
162701886-162726295 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 162705599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 413
(N413K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045902]
[ENSMUST00000111510]
|
| AlphaFold |
Q8K2I3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045902
AA Change: N413K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044405
Gene: ENSMUSG00000040170
AA Change: N413K
| 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: N413K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107135
Gene: ENSMUSG00000040170
AA Change: N413K
| 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 |
noncoding transcript
Transcript: ENSMUST00000194061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194197
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,248,743 (GRCm39) |
T2830I |
probably benign |
Het |
| Akap1 |
C |
T |
11: 88,735,080 (GRCm39) |
|
probably null |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cdk12 |
C |
T |
11: 98,101,272 (GRCm39) |
R377C |
unknown |
Het |
| Cox6b1 |
G |
A |
7: 30,316,553 (GRCm39) |
T81I |
possibly damaging |
Het |
| Creb1 |
T |
C |
1: 64,609,284 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
G |
T |
17: 32,886,948 (GRCm39) |
A140S |
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,690,823 (GRCm39) |
M276T |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,580,541 (GRCm39) |
R134L |
probably benign |
Het |
| Gabrp |
T |
C |
11: 33,504,476 (GRCm39) |
T280A |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,524,588 (GRCm39) |
T217A |
possibly damaging |
Het |
| Mtr |
T |
C |
13: 12,240,536 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
G |
3: 55,598,315 (GRCm39) |
D2398A |
probably damaging |
Het |
| Or3a4 |
T |
A |
11: 73,945,301 (GRCm39) |
I95F |
probably benign |
Het |
| Phyh |
T |
A |
2: 4,935,604 (GRCm39) |
W193R |
probably null |
Het |
| Rab36 |
A |
G |
10: 74,884,298 (GRCm39) |
Q82R |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,328,639 (GRCm39) |
V2846A |
probably damaging |
Het |
| Rprd2 |
G |
A |
3: 95,683,859 (GRCm39) |
S374L |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,308,382 (GRCm39) |
R462G |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,956,349 (GRCm39) |
N808D |
probably benign |
Het |
| Tbck |
A |
T |
3: 132,430,638 (GRCm39) |
I345F |
probably damaging |
Het |
| Tor2a |
T |
A |
2: 32,649,558 (GRCm39) |
V146D |
probably damaging |
Het |
| Trpc6 |
C |
A |
9: 8,653,062 (GRCm39) |
Q623K |
probably damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,688,681 (GRCm39) |
S192G |
probably damaging |
Het |
| Vnn1 |
T |
A |
10: 23,770,949 (GRCm39) |
L59Q |
probably 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 |
|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation