Incidental Mutation 'IGL03270:Fmo2'
ID |
415220 |
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: 0.057)
|
Stock # |
IGL03270
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
162701886-162726295 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 162709595 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 264
(F264S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045902]
[ENSMUST00000111510]
|
AlphaFold |
Q8K2I3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045902
AA Change: F264S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044405 Gene: ENSMUSG00000040170 AA Change: F264S
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 damaging
Transcript: ENSMUST00000111510
AA Change: F264S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107135 Gene: ENSMUSG00000040170 AA Change: F264S
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ctnnd1 |
A |
T |
2: 84,440,071 (GRCm39) |
|
probably null |
Het |
Fcmr |
A |
T |
1: 130,803,779 (GRCm39) |
R194S |
possibly damaging |
Het |
Gfra2 |
A |
G |
14: 71,163,344 (GRCm39) |
D209G |
possibly damaging |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Iigp1c |
A |
G |
18: 60,378,548 (GRCm39) |
K28E |
probably benign |
Het |
Kifap3 |
T |
A |
1: 163,676,302 (GRCm39) |
M419K |
probably benign |
Het |
Lgr6 |
A |
C |
1: 134,925,442 (GRCm39) |
I133S |
probably damaging |
Het |
Med13l |
A |
C |
5: 118,869,495 (GRCm39) |
N811T |
probably damaging |
Het |
Or4c118 |
A |
G |
2: 88,975,089 (GRCm39) |
F93L |
probably damaging |
Het |
Or6k2 |
T |
A |
1: 173,987,119 (GRCm39) |
M260K |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,592,637 (GRCm39) |
D1580V |
possibly damaging |
Het |
Ppp4r2 |
T |
G |
6: 100,840,086 (GRCm39) |
N72K |
probably damaging |
Het |
Prr27 |
T |
C |
5: 87,983,537 (GRCm39) |
|
probably benign |
Het |
Rad51d |
A |
G |
11: 82,772,420 (GRCm39) |
|
probably benign |
Het |
Rel |
T |
C |
11: 23,692,584 (GRCm39) |
N483S |
probably benign |
Het |
Scn9a |
A |
G |
2: 66,314,358 (GRCm39) |
F1776L |
probably damaging |
Het |
Slco5a1 |
G |
A |
1: 12,942,252 (GRCm39) |
T798I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,606,811 (GRCm39) |
D18033G |
probably damaging |
Het |
Vmn1r46 |
T |
A |
6: 89,953,756 (GRCm39) |
S202T |
probably damaging |
Het |
Vmn2r110 |
T |
G |
17: 20,803,778 (GRCm39) |
M266L |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,027,778 (GRCm39) |
D506V |
probably benign |
Het |
Zbtb1 |
T |
C |
12: 76,432,289 (GRCm39) |
S92P |
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 |
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 |
2016-08-02 |