Incidental Mutation 'BB011:Mpo'
ID |
642658 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mpo
|
Ensembl Gene |
ENSMUSG00000009350 |
Gene Name |
myeloperoxidase |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
BB011
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
87684610-87695238 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87685666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 48
(D48G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020779]
[ENSMUST00000107930]
[ENSMUST00000121303]
[ENSMUST00000143021]
|
AlphaFold |
P11247 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020779
AA Change: D48G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020779 Gene: ENSMUSG00000009350 AA Change: D48G
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 damaging
Transcript: ENSMUST00000121303
AA Change: D48G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112837 Gene: ENSMUSG00000009350 AA Change: D48G
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 damaging
Transcript: ENSMUST00000143021
AA Change: D48G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123371 Gene: ENSMUSG00000009350 AA Change: D48G
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,383,281 (GRCm39) |
K2155E |
possibly damaging |
Het |
Adgre5 |
G |
A |
8: 84,456,029 (GRCm39) |
P256S |
possibly damaging |
Het |
Adipor1 |
T |
A |
1: 134,353,731 (GRCm39) |
V172D |
probably damaging |
Het |
Ahsa1 |
T |
C |
12: 87,317,230 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,622,641 (GRCm39) |
I404V |
possibly damaging |
Het |
Asxl3 |
G |
A |
18: 22,658,602 (GRCm39) |
R2204Q |
probably damaging |
Het |
Barhl2 |
A |
G |
5: 106,605,515 (GRCm39) |
S65P |
unknown |
Het |
Bbx |
A |
T |
16: 50,044,671 (GRCm39) |
L630H |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,608 (GRCm39) |
T531A |
possibly damaging |
Het |
Catsperb |
T |
A |
12: 101,486,824 (GRCm39) |
H450Q |
probably benign |
Het |
Cdt1 |
T |
C |
8: 123,296,091 (GRCm39) |
L135P |
probably damaging |
Het |
Cfap206 |
T |
A |
4: 34,728,833 (GRCm39) |
H24L |
probably benign |
Het |
Cilk1 |
T |
C |
9: 78,062,746 (GRCm39) |
L260P |
probably damaging |
Het |
Cnga4 |
T |
A |
7: 105,057,028 (GRCm39) |
V480E |
probably benign |
Het |
Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
Ctcfl |
G |
A |
2: 172,955,449 (GRCm39) |
T271I |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,038,570 (GRCm39) |
R1003G |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,258,590 (GRCm39) |
D1927G |
probably benign |
Het |
Dscc1 |
A |
T |
15: 54,945,572 (GRCm39) |
D374E |
probably benign |
Het |
Eci2 |
G |
A |
13: 35,177,053 (GRCm39) |
Q69* |
probably null |
Het |
Ep300 |
C |
A |
15: 81,533,703 (GRCm39) |
P1920Q |
unknown |
Het |
Epha5 |
A |
G |
5: 84,232,705 (GRCm39) |
Y629H |
possibly damaging |
Het |
Fat2 |
G |
A |
11: 55,153,613 (GRCm39) |
T3533I |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,910,593 (GRCm39) |
N1803S |
probably damaging |
Het |
Fcrl2 |
T |
C |
3: 87,166,840 (GRCm39) |
Y51C |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gcnt2 |
A |
T |
13: 41,072,040 (GRCm39) |
K228* |
probably null |
Het |
Gucy2c |
A |
T |
6: 136,740,053 (GRCm39) |
V258E |
probably benign |
Het |
Hecw1 |
C |
A |
13: 14,497,113 (GRCm39) |
L298F |
probably damaging |
Het |
Hydin |
T |
G |
8: 111,145,103 (GRCm39) |
V818G |
possibly damaging |
Het |
Hykk |
A |
G |
9: 54,829,524 (GRCm39) |
Y131C |
probably damaging |
Het |
Mrps10 |
T |
C |
17: 47,689,208 (GRCm39) |
*202Q |
probably null |
Het |
Mrps14 |
T |
C |
1: 160,024,559 (GRCm39) |
V30A |
probably benign |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Muc2 |
G |
T |
7: 141,281,631 (GRCm39) |
G497W |
probably damaging |
Het |
Nnt |
A |
T |
13: 119,523,181 (GRCm39) |
V237D |
probably damaging |
Het |
Nox4 |
G |
T |
7: 87,023,589 (GRCm39) |
V492L |
probably benign |
Het |
Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
Or5ak23 |
T |
C |
2: 85,244,563 (GRCm39) |
Y220C |
probably benign |
Het |
Or6aa1 |
A |
G |
7: 86,043,938 (GRCm39) |
I256T |
probably damaging |
Het |
Pard3 |
A |
G |
8: 128,137,231 (GRCm39) |
N861S |
probably benign |
Het |
Pdlim4 |
G |
A |
11: 53,946,048 (GRCm39) |
R230* |
probably null |
Het |
Pinlyp |
C |
T |
7: 24,241,550 (GRCm39) |
V159M |
possibly damaging |
Het |
Plcb1 |
A |
T |
2: 135,201,613 (GRCm39) |
T855S |
probably benign |
Het |
Pot1a |
T |
A |
6: 25,753,309 (GRCm39) |
D409V |
possibly damaging |
Het |
Prom1 |
T |
C |
5: 44,187,111 (GRCm39) |
D382G |
probably benign |
Het |
Prss16 |
A |
T |
13: 22,192,834 (GRCm39) |
N83K |
probably damaging |
Het |
Ptprn2 |
A |
G |
12: 116,804,884 (GRCm39) |
D133G |
probably benign |
Het |
Rasef |
C |
T |
4: 73,659,166 (GRCm39) |
|
probably null |
Het |
Rbak |
A |
G |
5: 143,160,241 (GRCm39) |
S271P |
probably damaging |
Het |
Rbm20 |
A |
T |
19: 53,666,016 (GRCm39) |
I60F |
possibly damaging |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rsf1 |
G |
GACGGCCGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Serpinb3c |
A |
G |
1: 107,200,904 (GRCm39) |
L171P |
probably damaging |
Het |
Slc25a19 |
T |
C |
11: 115,506,376 (GRCm39) |
Y211C |
unknown |
Het |
Sorbs2 |
C |
T |
8: 46,248,507 (GRCm39) |
S586L |
probably damaging |
Het |
Spesp1 |
A |
T |
9: 62,180,733 (GRCm39) |
S58R |
probably benign |
Het |
Spryd3 |
A |
G |
15: 102,026,762 (GRCm39) |
I329T |
probably benign |
Het |
St8sia2 |
G |
A |
7: 73,616,700 (GRCm39) |
L113F |
probably damaging |
Het |
Star |
T |
C |
8: 26,299,883 (GRCm39) |
I75T |
possibly damaging |
Het |
Tasor2 |
A |
T |
13: 3,644,331 (GRCm39) |
F129Y |
possibly damaging |
Het |
Tdrd6 |
T |
A |
17: 43,938,697 (GRCm39) |
I784F |
possibly damaging |
Het |
Tex55 |
G |
A |
16: 38,632,826 (GRCm39) |
Q369* |
probably null |
Het |
Tsc22d4 |
A |
G |
5: 137,766,273 (GRCm39) |
I144V |
unknown |
Het |
Tspan8 |
T |
C |
10: 115,669,229 (GRCm39) |
|
probably null |
Het |
Ttll9 |
C |
T |
2: 152,804,407 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
G |
4: 139,194,587 (GRCm39) |
L1160R |
unknown |
Het |
Ufd1 |
A |
G |
16: 18,642,035 (GRCm39) |
Y162C |
possibly damaging |
Het |
Unc13c |
A |
T |
9: 73,641,690 (GRCm39) |
F1268I |
probably benign |
Het |
Uvssa |
T |
C |
5: 33,568,295 (GRCm39) |
I561T |
probably damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,434,254 (GRCm39) |
S817T |
probably damaging |
Het |
Ybx1 |
T |
C |
4: 119,139,476 (GRCm39) |
E173G |
probably damaging |
Het |
Zc3h6 |
T |
C |
2: 128,857,400 (GRCm39) |
S640P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCAGGTGATAGTGCCAAAAG -3'
(R):5'- GGCCACTGAAGATGTTCTGAC -3'
Sequencing Primer
(F):5'- GGGTGGGGATTCTCAGCC -3'
(R):5'- CACTGAAGATGTTCTGACAGCCAG -3'
|
Posted On |
2020-08-01 |