Incidental Mutation 'R6668:Fmo2'
ID |
527048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmo2
|
Ensembl Gene |
ENSMUSG00000040170 |
Gene Name |
flavin containing monooxygenase 2 |
Synonyms |
2310042I22Rik, 2310008D08Rik |
MMRRC Submission |
044788-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R6668 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
162701886-162726295 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 162704617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 430
(T430S)
|
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: T430S
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000044405 Gene: ENSMUSG00000040170 AA Change: T430S
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: T430S
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000107135 Gene: ENSMUSG00000040170 AA Change: T430S
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
|
Meta Mutation Damage Score |
0.0899 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (42/42) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
G |
T |
11: 116,486,868 (GRCm39) |
|
probably benign |
Het |
Adam26b |
A |
T |
8: 43,973,727 (GRCm39) |
V425D |
possibly damaging |
Het |
Ahctf1 |
A |
G |
1: 179,579,972 (GRCm39) |
S2077P |
probably benign |
Het |
Amacr |
A |
G |
15: 10,983,468 (GRCm39) |
T93A |
probably benign |
Het |
Arsb |
T |
A |
13: 93,930,728 (GRCm39) |
|
probably null |
Het |
Bcas3 |
G |
A |
11: 85,692,677 (GRCm39) |
R354Q |
probably damaging |
Het |
Chia1 |
C |
T |
3: 106,038,264 (GRCm39) |
L387F |
probably damaging |
Het |
Cyp24a1 |
A |
T |
2: 170,327,805 (GRCm39) |
|
probably null |
Het |
Dennd4a |
G |
A |
9: 64,794,247 (GRCm39) |
G689S |
probably damaging |
Het |
Elovl4 |
G |
A |
9: 83,688,039 (GRCm39) |
A18V |
probably benign |
Het |
Fam135a |
A |
T |
1: 24,067,929 (GRCm39) |
V80E |
probably damaging |
Het |
Fpgs |
T |
C |
2: 32,577,618 (GRCm39) |
I213V |
probably benign |
Het |
Gm10134 |
A |
T |
2: 28,396,263 (GRCm39) |
R53* |
probably null |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Ift172 |
T |
C |
5: 31,412,683 (GRCm39) |
N1524S |
probably benign |
Het |
Kif1b |
G |
A |
4: 149,297,864 (GRCm39) |
S1104F |
probably benign |
Het |
Map3k21 |
T |
C |
8: 126,652,852 (GRCm39) |
V326A |
possibly damaging |
Het |
Mlst8 |
A |
G |
17: 24,696,453 (GRCm39) |
|
probably null |
Het |
Muc16 |
A |
T |
9: 18,551,681 (GRCm39) |
S4871T |
probably benign |
Het |
Myo1d |
A |
G |
11: 80,474,701 (GRCm39) |
|
probably benign |
Het |
Ndufa3 |
A |
G |
7: 3,622,465 (GRCm39) |
Y41C |
probably damaging |
Het |
Nfkbid |
T |
A |
7: 30,123,866 (GRCm39) |
L142Q |
probably benign |
Het |
Or8b38 |
T |
A |
9: 37,973,066 (GRCm39) |
M150K |
possibly damaging |
Het |
Peg10 |
T |
A |
6: 4,754,502 (GRCm39) |
D94E |
probably benign |
Het |
Phactr3 |
A |
T |
2: 177,974,657 (GRCm39) |
I492F |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,492,396 (GRCm39) |
V1751A |
possibly damaging |
Het |
Prss16 |
T |
C |
13: 22,190,918 (GRCm39) |
E238G |
probably null |
Het |
Rad51ap2 |
T |
C |
12: 11,507,647 (GRCm39) |
V523A |
probably benign |
Het |
Rbm33 |
T |
A |
5: 28,547,498 (GRCm39) |
S223T |
probably benign |
Het |
Ryk |
T |
A |
9: 102,746,475 (GRCm39) |
F137I |
possibly damaging |
Het |
Sars2 |
G |
A |
7: 28,446,429 (GRCm39) |
E194K |
probably benign |
Het |
Spata2l |
T |
C |
8: 123,960,167 (GRCm39) |
D374G |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,937,592 (GRCm39) |
|
probably null |
Het |
Ubr4 |
A |
G |
4: 139,192,652 (GRCm39) |
K1097E |
probably damaging |
Het |
Ulk4 |
A |
T |
9: 121,017,408 (GRCm39) |
V690E |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,410,659 (GRCm39) |
N2703S |
probably damaging |
Het |
Zfp273 |
C |
G |
13: 67,973,243 (GRCm39) |
L124V |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 55,031,091 (GRCm39) |
S950P |
probably damaging |
Het |
Zfp994 |
A |
T |
17: 22,420,081 (GRCm39) |
H289Q |
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 |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGTTTCAGGATCCTCTGCTTC -3'
(R):5'- ATCTGAGATACAAACCTCCTGATGG -3'
Sequencing Primer
(F):5'- CAGGATCCTCTGCTTCTGGGTG -3'
(R):5'- TGATGGAACCTCCCAGAGATTCATTC -3'
|
Posted On |
2018-07-23 |