Incidental Mutation 'R7053:Mpo'
ID |
547726 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mpo
|
Ensembl Gene |
ENSMUSG00000009350 |
Gene Name |
myeloperoxidase |
Synonyms |
|
MMRRC Submission |
045150-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7053 (G1)
|
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 T
at 87694336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 109
(N109Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128484
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020779]
[ENSMUST00000103177]
[ENSMUST00000107930]
[ENSMUST00000121303]
[ENSMUST00000146650]
|
AlphaFold |
P11247 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020779
AA Change: N689Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020779 Gene: ENSMUSG00000009350 AA Change: N689Y
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: ENSMUST00000103177
|
SMART Domains |
Protein: ENSMUSP00000099466 Gene: ENSMUSG00000009356
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:An_peroxidase
|
136 |
682 |
1.8e-180 |
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: N689Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112837 Gene: ENSMUSG00000009350 AA Change: N689Y
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: ENSMUST00000146650
AA Change: N109Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128484 Gene: ENSMUSG00000009350 AA Change: N109Y
Domain | Start | End | E-Value | Type |
Pfam:An_peroxidase
|
1 |
112 |
2.4e-32 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
T |
8: 44,021,836 (GRCm39) |
C551* |
probably null |
Het |
Aldh1l1 |
C |
A |
6: 90,540,420 (GRCm39) |
T235K |
possibly damaging |
Het |
Atp6v0a2 |
A |
G |
5: 124,783,923 (GRCm39) |
E257G |
probably damaging |
Het |
AW146154 |
A |
G |
7: 41,131,988 (GRCm39) |
|
probably null |
Het |
BC048507 |
T |
C |
13: 68,011,772 (GRCm39) |
Y50H |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,083,791 (GRCm39) |
N77D |
possibly damaging |
Het |
Ccdc13 |
T |
C |
9: 121,662,904 (GRCm39) |
E37G |
probably damaging |
Het |
Ccn6 |
A |
G |
10: 39,034,297 (GRCm39) |
Y102H |
probably damaging |
Het |
Col27a1 |
T |
A |
4: 63,251,404 (GRCm39) |
|
probably benign |
Het |
Corin |
T |
A |
5: 72,458,870 (GRCm39) |
I960L |
probably benign |
Het |
Csnk2b |
A |
G |
17: 35,335,422 (GRCm39) |
|
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,676,801 (GRCm39) |
S182G |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,851,666 (GRCm39) |
L74P |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,660,740 (GRCm39) |
D838G |
probably damaging |
Het |
Dkkl1 |
G |
T |
7: 44,857,022 (GRCm39) |
Q182K |
probably damaging |
Het |
Dnai2 |
T |
C |
11: 114,629,521 (GRCm39) |
S183P |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,344,161 (GRCm39) |
L1835P |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,225,328 (GRCm39) |
|
probably null |
Het |
Fam174a |
C |
T |
1: 95,252,953 (GRCm39) |
A185V |
probably damaging |
Het |
Fhip1b |
C |
T |
7: 105,033,779 (GRCm39) |
G479D |
probably damaging |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Grid2 |
G |
T |
6: 64,677,402 (GRCm39) |
A74S |
unknown |
Het |
Gsdma3 |
T |
A |
11: 98,520,621 (GRCm39) |
M84K |
possibly damaging |
Het |
Hlcs |
A |
T |
16: 94,068,874 (GRCm39) |
S262R |
possibly damaging |
Het |
Lrp1 |
A |
G |
10: 127,376,963 (GRCm39) |
C4205R |
probably damaging |
Het |
Mdc1 |
C |
T |
17: 36,157,218 (GRCm39) |
A181V |
probably benign |
Het |
Mdga2 |
T |
A |
12: 66,736,158 (GRCm39) |
I357F |
probably benign |
Het |
Mfn1 |
A |
G |
3: 32,586,114 (GRCm39) |
I21V |
probably benign |
Het |
Mgat4b |
C |
T |
11: 50,124,367 (GRCm39) |
T409M |
probably damaging |
Het |
Mgat4d |
G |
T |
8: 84,098,261 (GRCm39) |
K341N |
probably damaging |
Het |
Mvp |
T |
C |
7: 126,586,776 (GRCm39) |
Q785R |
possibly damaging |
Het |
Nim1k |
A |
G |
13: 120,189,145 (GRCm39) |
V88A |
probably damaging |
Het |
Oasl2 |
A |
T |
5: 115,049,291 (GRCm39) |
I464L |
possibly damaging |
Het |
Or5m11b |
G |
T |
2: 85,806,358 (GRCm39) |
C257F |
possibly damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,740,681 (GRCm39) |
F2139L |
probably damaging |
Het |
Pop1 |
T |
G |
15: 34,530,421 (GRCm39) |
S940A |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 4,905,670 (GRCm39) |
M75K |
probably damaging |
Het |
Prdm15 |
G |
A |
16: 97,595,742 (GRCm39) |
Q1029* |
probably null |
Het |
Rffl |
T |
C |
11: 82,703,497 (GRCm39) |
K142R |
probably null |
Het |
Rhou |
A |
G |
8: 124,380,934 (GRCm39) |
|
probably benign |
Het |
Rp1l1 |
A |
T |
14: 64,268,958 (GRCm39) |
T1515S |
possibly damaging |
Het |
Serpina1b |
T |
A |
12: 103,698,688 (GRCm39) |
S54C |
possibly damaging |
Het |
Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
Taok3 |
T |
A |
5: 117,390,627 (GRCm39) |
D529E |
probably benign |
Het |
Tmem18 |
T |
A |
12: 30,634,506 (GRCm39) |
M1K |
probably null |
Het |
Tmem269 |
T |
A |
4: 119,066,464 (GRCm39) |
H198L |
probably damaging |
Het |
Tnrc18 |
A |
G |
5: 142,772,984 (GRCm39) |
V432A |
unknown |
Het |
Ttc6 |
A |
T |
12: 57,707,318 (GRCm39) |
T742S |
probably benign |
Het |
Uhrf2 |
T |
A |
19: 30,069,519 (GRCm39) |
C749S |
probably damaging |
Het |
Unc13c |
G |
A |
9: 73,839,579 (GRCm39) |
T424I |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r61 |
A |
C |
7: 41,916,557 (GRCm39) |
D390A |
probably damaging |
Het |
Xpo7 |
A |
G |
14: 70,922,298 (GRCm39) |
|
probably null |
Het |
Zfp948 |
T |
A |
17: 21,805,121 (GRCm39) |
L37* |
probably null |
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 |
|
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 |
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'- GAGCTCTCCTGTGCTGTAGATAAG -3'
(R):5'- ACCCAGGGAAGAGAGTTCTC -3'
Sequencing Primer
(F):5'- ACACTCAGGGGACGTCTCAAG -3'
(R):5'- GAGAGTTCTCTGTGATTCCCACTAG -3'
|
Posted On |
2019-05-13 |