Incidental Mutation 'IGL02123:Mpo'
| ID |
280721 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mpo
|
| Ensembl Gene |
ENSMUSG00000009350 |
| Gene Name |
myeloperoxidase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02123
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
87684610-87695238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87685621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 33
(N33I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020779]
[ENSMUST00000107930]
[ENSMUST00000121303]
[ENSMUST00000143021]
|
| AlphaFold |
P11247 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020779
AA Change: N33I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000020779
Gene: ENSMUSG00000009350
AA Change: N33I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:An_peroxidase
|
147 |
692 |
4.2e-183 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107930
|
| SMART Domains |
Protein: ENSMUSP00000103563
Gene: ENSMUSG00000009350
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:g1cxp.1
|
82 |
99 |
1e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121303
AA Change: N33I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000112837
Gene: ENSMUSG00000009350
AA Change: N33I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:An_peroxidase
|
147 |
692 |
4.2e-183 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130442
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143021
AA Change: N33I
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123371
Gene: ENSMUSG00000009350
AA Change: N33I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
PDB:4C1M|B
|
139 |
167 |
4e-11 |
PDB |
|
SCOP:g1cxp.1
|
141 |
167 |
4e-10 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous inactivation of this gene causes neutrophil dysfunction and decreased resistance to fungal infection with Candida, and may lead to enhanced atherosclerosis, reduced neutrophil-mediated lysis of muscle cells, decreased resistance to EAE, and altered asbestos-induced lung inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
T |
C |
7: 28,328,914 (GRCm39) |
T31A |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,401,766 (GRCm39) |
V429A |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cldn11 |
C |
T |
3: 31,204,336 (GRCm39) |
T13M |
probably benign |
Het |
| Cngb3 |
C |
A |
4: 19,367,801 (GRCm39) |
Q237K |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,569,740 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,939,695 (GRCm39) |
L621H |
probably damaging |
Het |
| Dbn1 |
T |
C |
13: 55,624,553 (GRCm39) |
D332G |
possibly damaging |
Het |
| Drc1 |
T |
C |
5: 30,504,448 (GRCm39) |
S197P |
probably benign |
Het |
| E2f2 |
A |
G |
4: 135,900,159 (GRCm39) |
N23S |
probably benign |
Het |
| Epb41l2 |
T |
A |
10: 25,336,742 (GRCm39) |
L246H |
probably damaging |
Het |
| Fam13b |
G |
A |
18: 34,578,671 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
A |
G |
5: 45,796,493 (GRCm39) |
M30T |
possibly damaging |
Het |
| Fn3krp |
G |
A |
11: 121,320,270 (GRCm39) |
R205H |
probably benign |
Het |
| Fndc11 |
A |
G |
2: 180,863,443 (GRCm39) |
I83V |
probably benign |
Het |
| Garin2 |
T |
C |
12: 78,780,981 (GRCm39) |
|
probably null |
Het |
| Gm3629 |
C |
T |
14: 17,834,541 (GRCm39) |
R150H |
probably benign |
Het |
| Hs6st1 |
T |
A |
1: 36,142,952 (GRCm39) |
F296I |
possibly damaging |
Het |
| Igsf10 |
T |
A |
3: 59,226,081 (GRCm39) |
I2531F |
probably damaging |
Het |
| Klhl40 |
T |
C |
9: 121,608,989 (GRCm39) |
F385L |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,385,466 (GRCm39) |
M302K |
possibly damaging |
Het |
| Lrrc43 |
A |
T |
5: 123,632,342 (GRCm39) |
I162F |
probably damaging |
Het |
| Map3k21 |
A |
G |
8: 126,652,849 (GRCm39) |
E325G |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,200,625 (GRCm39) |
|
probably null |
Het |
| Muc5b |
C |
T |
7: 141,417,494 (GRCm39) |
T3480I |
possibly damaging |
Het |
| Myo6 |
T |
C |
9: 80,171,554 (GRCm39) |
|
probably benign |
Het |
| Nostrin |
C |
T |
2: 68,986,453 (GRCm39) |
|
probably benign |
Het |
| Nphp1 |
T |
C |
2: 127,595,969 (GRCm39) |
M498V |
probably benign |
Het |
| Nr4a2 |
A |
T |
2: 57,001,667 (GRCm39) |
L199Q |
possibly damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,873 (GRCm39) |
N598I |
probably damaging |
Het |
| Pex19 |
T |
A |
1: 171,961,853 (GRCm39) |
M207K |
probably damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Plekha2 |
T |
C |
8: 25,532,745 (GRCm39) |
K409E |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,476,691 (GRCm39) |
L1169P |
probably damaging |
Het |
| Pmpcb |
A |
G |
5: 21,948,373 (GRCm39) |
|
probably benign |
Het |
| Ptrh1 |
T |
C |
2: 32,666,826 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,288,265 (GRCm39) |
E439G |
probably damaging |
Het |
| Ric1 |
C |
T |
19: 29,572,200 (GRCm39) |
A665V |
probably benign |
Het |
| Stx18 |
T |
A |
5: 38,285,447 (GRCm39) |
V219D |
probably damaging |
Het |
| Taf7 |
A |
T |
18: 37,775,533 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
A |
G |
1: 39,415,988 (GRCm39) |
I895T |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,419,317 (GRCm39) |
S766P |
probably damaging |
Het |
| Tekt3 |
C |
A |
11: 62,974,766 (GRCm39) |
H362N |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Tmem94 |
T |
C |
11: 115,678,364 (GRCm39) |
S196P |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,367,933 (GRCm39) |
Y353C |
probably damaging |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vmn2r90 |
T |
G |
17: 17,953,744 (GRCm39) |
M636R |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,300,941 (GRCm39) |
C648S |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,965,591 (GRCm39) |
C560Y |
probably damaging |
Het |
|
| Other mutations in Mpo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Mpo
|
APN |
11 |
87,693,443 (GRCm39) |
missense |
probably benign |
|
|
IGL00668:Mpo
|
APN |
11 |
87,688,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01016:Mpo
|
APN |
11 |
87,688,436 (GRCm39) |
splice site |
probably null |
|
|
IGL01517:Mpo
|
APN |
11 |
87,686,647 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01530:Mpo
|
APN |
11 |
87,692,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB001:Mpo
|
UTSW |
11 |
87,685,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Mpo
|
UTSW |
11 |
87,685,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Mpo
|
UTSW |
11 |
87,692,436 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0458:Mpo
|
UTSW |
11 |
87,687,123 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0506:Mpo
|
UTSW |
11 |
87,694,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0574:Mpo
|
UTSW |
11 |
87,686,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0850:Mpo
|
UTSW |
11 |
87,688,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1488:Mpo
|
UTSW |
11 |
87,688,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Mpo
|
UTSW |
11 |
87,686,707 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1785:Mpo
|
UTSW |
11 |
87,688,187 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1891:Mpo
|
UTSW |
11 |
87,692,106 (GRCm39) |
nonsense |
probably null |
|
|
R1989:Mpo
|
UTSW |
11 |
87,694,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Mpo
|
UTSW |
11 |
87,686,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Mpo
|
UTSW |
11 |
87,686,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Mpo
|
UTSW |
11 |
87,688,187 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2132:Mpo
|
UTSW |
11 |
87,688,187 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3930:Mpo
|
UTSW |
11 |
87,691,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3931:Mpo
|
UTSW |
11 |
87,691,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3941:Mpo
|
UTSW |
11 |
87,688,175 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4323:Mpo
|
UTSW |
11 |
87,686,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Mpo
|
UTSW |
11 |
87,687,107 (GRCm39) |
missense |
probably benign |
|
|
R4892:Mpo
|
UTSW |
11 |
87,693,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5224:Mpo
|
UTSW |
11 |
87,687,283 (GRCm39) |
unclassified |
probably benign |
|
|
R5250:Mpo
|
UTSW |
11 |
87,694,259 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5373:Mpo
|
UTSW |
11 |
87,694,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5374:Mpo
|
UTSW |
11 |
87,694,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5408:Mpo
|
UTSW |
11 |
87,691,851 (GRCm39) |
splice site |
probably null |
|
|
R5708:Mpo
|
UTSW |
11 |
87,692,581 (GRCm39) |
splice site |
probably null |
|
|
R6354:Mpo
|
UTSW |
11 |
87,688,172 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6598:Mpo
|
UTSW |
11 |
87,690,798 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6713:Mpo
|
UTSW |
11 |
87,686,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7053:Mpo
|
UTSW |
11 |
87,694,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7395:Mpo
|
UTSW |
11 |
87,691,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Mpo
|
UTSW |
11 |
87,688,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7924:Mpo
|
UTSW |
11 |
87,685,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Mpo
|
UTSW |
11 |
87,692,475 (GRCm39) |
missense |
probably benign |
|
|
R8285:Mpo
|
UTSW |
11 |
87,688,393 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8776:Mpo
|
UTSW |
11 |
87,693,538 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8776-TAIL:Mpo
|
UTSW |
11 |
87,693,538 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8807:Mpo
|
UTSW |
11 |
87,687,165 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8829:Mpo
|
UTSW |
11 |
87,694,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9037:Mpo
|
UTSW |
11 |
87,688,557 (GRCm39) |
unclassified |
probably benign |
|
|
R9272:Mpo
|
UTSW |
11 |
87,686,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9535:Mpo
|
UTSW |
11 |
87,690,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Mpo
|
UTSW |
11 |
87,694,349 (GRCm39) |
missense |
probably benign |
|
|
RF018:Mpo
|
UTSW |
11 |
87,688,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Mpo
|
UTSW |
11 |
87,686,071 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2015-04-16 |
Incidental Mutation