Incidental Mutation 'R5408:Mpo'
ID |
426408 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mpo
|
Ensembl Gene |
ENSMUSG00000009350 |
Gene Name |
myeloperoxidase |
Synonyms |
|
MMRRC Submission |
042977-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5408 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
87684610-87695238 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 87691851 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020779]
[ENSMUST00000107930]
[ENSMUST00000121303]
[ENSMUST00000143021]
[ENSMUST00000146650]
|
AlphaFold |
P11247 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020779
|
SMART Domains |
Protein: ENSMUSP00000020779 Gene: ENSMUSG00000009350
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 null
Transcript: ENSMUST00000121303
|
SMART Domains |
Protein: ENSMUSP00000112837 Gene: ENSMUSG00000009350
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
|
SMART Domains |
Protein: ENSMUSP00000123371 Gene: ENSMUSG00000009350
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146650
|
SMART Domains |
Protein: ENSMUSP00000128484 Gene: ENSMUSG00000009350
Domain | Start | End | E-Value | Type |
Pfam:An_peroxidase
|
1 |
112 |
2.4e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167903
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
99% (74/75) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430110L20Rik |
A |
G |
1: 181,054,979 (GRCm39) |
|
noncoding transcript |
Het |
Actn2 |
T |
C |
13: 12,285,681 (GRCm39) |
I837V |
probably benign |
Het |
Adora1 |
T |
A |
1: 134,130,901 (GRCm39) |
T257S |
probably benign |
Het |
Akap9 |
T |
A |
5: 4,108,458 (GRCm39) |
M2954K |
possibly damaging |
Het |
Akr1c13 |
G |
T |
13: 4,244,715 (GRCm39) |
A98S |
probably benign |
Het |
Aldh2 |
C |
T |
5: 121,708,620 (GRCm39) |
|
probably benign |
Het |
Ank1 |
A |
G |
8: 23,572,209 (GRCm39) |
N48D |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,889,701 (GRCm39) |
T527A |
probably damaging |
Het |
Atp13a1 |
T |
C |
8: 70,249,490 (GRCm39) |
V251A |
probably benign |
Het |
Baz1a |
A |
T |
12: 54,969,835 (GRCm39) |
D608E |
probably damaging |
Het |
Bend5 |
A |
T |
4: 111,311,280 (GRCm39) |
|
probably null |
Het |
Blm |
T |
G |
7: 80,152,370 (GRCm39) |
T526P |
probably benign |
Het |
Cacna1a |
T |
C |
8: 85,276,336 (GRCm39) |
V559A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,325,752 (GRCm39) |
D1042G |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,705,759 (GRCm38) |
H212R |
possibly damaging |
Het |
Cdh3 |
T |
C |
8: 107,263,269 (GRCm39) |
I106T |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Cfap68 |
T |
C |
9: 50,676,057 (GRCm39) |
N87S |
probably damaging |
Het |
Col16a1 |
A |
T |
4: 129,986,898 (GRCm39) |
|
probably benign |
Het |
Dctn6 |
C |
T |
8: 34,562,056 (GRCm39) |
V89I |
possibly damaging |
Het |
Dgkz |
C |
A |
2: 91,766,168 (GRCm39) |
G798W |
possibly damaging |
Het |
Epb41l2 |
A |
T |
10: 25,343,992 (GRCm39) |
|
probably null |
Het |
Fam171a2 |
T |
C |
11: 102,328,344 (GRCm39) |
K805R |
possibly damaging |
Het |
Fam89b |
G |
T |
19: 5,779,421 (GRCm39) |
Y45* |
probably null |
Het |
Fchsd2 |
A |
G |
7: 100,920,781 (GRCm39) |
N462S |
possibly damaging |
Het |
Fyco1 |
T |
G |
9: 123,658,568 (GRCm39) |
H536P |
probably damaging |
Het |
Galnt12 |
A |
T |
4: 47,104,169 (GRCm39) |
E142D |
probably damaging |
Het |
Gspt1 |
C |
T |
16: 11,071,719 (GRCm39) |
G48D |
probably benign |
Het |
H6pd |
A |
G |
4: 150,067,322 (GRCm39) |
S355P |
probably damaging |
Het |
Hectd2 |
T |
C |
19: 36,532,296 (GRCm39) |
V38A |
possibly damaging |
Het |
Jup |
C |
T |
11: 100,267,607 (GRCm39) |
R572Q |
probably damaging |
Het |
Kcng3 |
T |
C |
17: 83,938,434 (GRCm39) |
D205G |
probably benign |
Het |
Kif13b |
A |
T |
14: 65,017,138 (GRCm39) |
|
probably null |
Het |
Mapk3 |
A |
G |
7: 126,363,007 (GRCm39) |
D253G |
probably damaging |
Het |
Methig1 |
A |
T |
15: 100,281,635 (GRCm39) |
Y253F |
possibly damaging |
Het |
Mmp3 |
T |
C |
9: 7,449,904 (GRCm39) |
S263P |
probably damaging |
Het |
Nbeal2 |
C |
A |
9: 110,466,588 (GRCm39) |
G772W |
possibly damaging |
Het |
Nr1d1 |
T |
A |
11: 98,661,087 (GRCm39) |
H393L |
probably benign |
Het |
Obscn |
A |
G |
11: 58,942,437 (GRCm39) |
V4915A |
probably damaging |
Het |
Olfml2b |
T |
A |
1: 170,472,545 (GRCm39) |
W19R |
probably damaging |
Het |
Or13p4 |
T |
C |
4: 118,547,641 (GRCm39) |
T3A |
probably benign |
Het |
Or56b1b |
C |
T |
7: 108,164,376 (GRCm39) |
A209T |
probably damaging |
Het |
Padi6 |
G |
A |
4: 140,454,996 (GRCm39) |
T647I |
probably damaging |
Het |
Pcyox1 |
A |
G |
6: 86,369,280 (GRCm39) |
L113S |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,704,052 (GRCm39) |
T192S |
probably benign |
Het |
Pip4k2a |
T |
C |
2: 18,911,119 (GRCm39) |
H87R |
probably benign |
Het |
Pkd1l3 |
C |
A |
8: 110,393,684 (GRCm39) |
T2004N |
probably damaging |
Het |
Prex1 |
CGTTGTTGTTGT |
CGTTGTTGTTGTTGT |
2: 166,417,573 (GRCm39) |
|
probably benign |
Het |
Ptprz1 |
C |
T |
6: 23,002,599 (GRCm39) |
T1563I |
probably damaging |
Het |
Reg3b |
T |
C |
6: 78,350,215 (GRCm39) |
V165A |
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,115,320 (GRCm39) |
D893G |
probably benign |
Het |
Sap18 |
A |
T |
14: 58,039,431 (GRCm39) |
M78L |
probably benign |
Het |
Scaper |
A |
T |
9: 55,493,508 (GRCm39) |
F1226I |
probably damaging |
Het |
Scyl3 |
A |
T |
1: 163,782,245 (GRCm39) |
|
probably null |
Het |
Shoc2 |
A |
G |
19: 53,976,556 (GRCm39) |
M149V |
probably benign |
Het |
Slc7a2 |
G |
A |
8: 41,368,042 (GRCm39) |
R602K |
probably damaging |
Het |
Sox30 |
A |
G |
11: 45,882,694 (GRCm39) |
I575V |
possibly damaging |
Het |
Trim14 |
A |
T |
4: 46,507,134 (GRCm39) |
C361S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,731,272 (GRCm39) |
|
probably benign |
Het |
Uncx |
A |
T |
5: 139,530,245 (GRCm39) |
K108* |
probably null |
Het |
Usp54 |
A |
T |
14: 20,600,501 (GRCm39) |
L1412Q |
probably damaging |
Het |
Uty |
A |
G |
Y: 1,245,614 (GRCm39) |
V6A |
possibly damaging |
Het |
Vmn1r30 |
C |
T |
6: 58,412,029 (GRCm39) |
V268I |
probably benign |
Het |
Wdsub1 |
T |
C |
2: 59,691,887 (GRCm39) |
|
probably benign |
Het |
Wipf3 |
A |
G |
6: 54,458,896 (GRCm39) |
I84V |
probably benign |
Het |
Xcr1 |
T |
A |
9: 123,685,631 (GRCm39) |
I44F |
probably benign |
Het |
Zfp687 |
T |
C |
3: 94,916,586 (GRCm39) |
|
probably benign |
Het |
Zfp729b |
A |
T |
13: 67,739,563 (GRCm39) |
S901T |
probably benign |
Het |
Zhx1 |
A |
T |
15: 57,915,819 (GRCm39) |
M809K |
probably damaging |
Het |
Zswim9 |
T |
C |
7: 12,994,753 (GRCm39) |
K468E |
possibly 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 |
IGL02123:Mpo
|
APN |
11 |
87,685,621 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCAAGGGGAAATGGGACC -3'
(R):5'- AAGACCTTGCTGAGTGGGAC -3'
Sequencing Primer
(F):5'- TACCTTAAAGACACGGGGGATATTAC -3'
(R):5'- GGGCCGGTACTGATTGTTC -3'
|
Posted On |
2016-09-01 |