Incidental Mutation 'IGL01530:Mpo'
ID89701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpo
Ensembl Gene ENSMUSG00000009350
Gene Namemyeloperoxidase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01530
Quality Score
Status
Chromosome11
Chromosomal Location87793581-87804413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 87801191 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 483 (M483I)
Ref Sequence ENSEMBL: ENSMUSP00000112837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020779] [ENSMUST00000107930] [ENSMUST00000121303] [ENSMUST00000146650]
Predicted Effect probably benign
Transcript: ENSMUST00000020779
AA Change: M483I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000020779
Gene: ENSMUSG00000009350
AA Change: M483I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:g1cxp.1 82 99 1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121303
AA Change: M483I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112837
Gene: ENSMUSG00000009350
AA Change: M483I

DomainStartEndE-ValueType
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: ENSMUST00000146650
SMART Domains Protein: ENSMUSP00000128484
Gene: ENSMUSG00000009350

DomainStartEndE-ValueType
Pfam:An_peroxidase 1 112 2.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167903
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 G A 14: 54,643,986 R1117W probably damaging Het
Acox2 T G 14: 8,246,363 Y476S probably damaging Het
Arl6ip5 G A 6: 97,210,824 D2N possibly damaging Het
C77080 G A 4: 129,222,796 probably null Het
Ces2h A G 8: 105,014,484 H36R probably benign Het
Cfap44 C A 16: 44,449,167 A1178E probably damaging Het
Clmn T A 12: 104,791,856 I134F probably damaging Het
Col6a5 A G 9: 105,915,186 probably benign Het
Csmd1 C T 8: 15,903,195 E3429K probably damaging Het
Csmd2 A G 4: 128,414,301 D1284G possibly damaging Het
Csmd3 T G 15: 47,669,617 D2516A probably damaging Het
Csmd3 C T 15: 47,838,437 G1750E possibly damaging Het
Depdc1a C T 3: 159,523,923 H631Y probably damaging Het
Fam129c A T 8: 71,603,917 probably benign Het
Fat2 A T 11: 55,283,387 S2167T probably benign Het
Flii G A 11: 60,720,182 R474* probably null Het
Hmcn2 A C 2: 31,354,264 D687A possibly damaging Het
Hrh4 A G 18: 13,015,947 probably benign Het
Hsd3b5 G A 3: 98,619,123 R336C probably damaging Het
Igkv5-39 T A 6: 69,900,475 E79V probably damaging Het
Iqgap3 G A 3: 88,112,303 probably null Het
Irak3 G A 10: 120,142,794 S492F probably benign Het
Kif14 T A 1: 136,478,419 probably benign Het
Kmt2c T C 5: 25,313,500 I2394V probably benign Het
Lama1 C T 17: 67,796,790 A2002V probably benign Het
Map3k19 T C 1: 127,822,104 E1170G probably damaging Het
Mdn1 T C 4: 32,711,938 probably benign Het
Neu3 T C 7: 99,813,746 S257G probably benign Het
Nup214 A G 2: 32,033,721 T1421A probably benign Het
Pbx1 T C 1: 168,191,304 N324S probably benign Het
Pcbp2 T C 15: 102,484,166 S5P probably benign Het
Pds5b A G 5: 150,792,175 I511V probably benign Het
Pdzph1 C T 17: 58,922,715 D983N probably damaging Het
Phldb2 A C 16: 45,802,729 D651E probably damaging Het
Pkhd1 A G 1: 20,559,419 probably null Het
Plxnb1 A G 9: 109,110,405 D1406G probably benign Het
Rhebl1 T C 15: 98,879,486 D65G probably damaging Het
Smpdl3a A G 10: 57,807,893 H249R probably damaging Het
Sorbs1 T C 19: 40,376,647 T231A probably benign Het
Tmem232 G A 17: 65,256,548 Q617* probably null Het
Trim62 A G 4: 128,884,459 D97G probably benign Het
Tsc2 T C 17: 24,622,662 T328A possibly damaging Het
Ugt2b5 C T 5: 87,137,245 V278I probably benign Het
Usp4 T C 9: 108,362,900 probably null Het
Vdac3-ps1 C T 13: 18,031,506 noncoding transcript Het
Wwc2 T A 8: 47,863,939 R706S unknown Het
Xpot A C 10: 121,611,528 I114S probably damaging Het
Zfp777 T A 6: 48,043,984 S279C probably damaging Het
Other mutations in Mpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Mpo APN 11 87802617 missense probably benign
IGL00668:Mpo APN 11 87797334 missense probably benign 0.01
IGL01016:Mpo APN 11 87797610 unclassified probably null
IGL01517:Mpo APN 11 87795821 missense possibly damaging 0.83
IGL02123:Mpo APN 11 87794795 missense probably benign 0.05
BB001:Mpo UTSW 11 87794840 missense probably damaging 1.00
BB011:Mpo UTSW 11 87794840 missense probably damaging 1.00
R0091:Mpo UTSW 11 87801610 missense probably benign 0.06
R0458:Mpo UTSW 11 87796297 missense probably benign 0.35
R0506:Mpo UTSW 11 87803504 missense probably benign 0.00
R0574:Mpo UTSW 11 87796076 missense probably damaging 0.99
R0850:Mpo UTSW 11 87797502 missense probably damaging 1.00
R1488:Mpo UTSW 11 87797430 missense probably damaging 1.00
R1753:Mpo UTSW 11 87795881 missense probably benign 0.06
R1785:Mpo UTSW 11 87797361 missense possibly damaging 0.90
R1891:Mpo UTSW 11 87801280 nonsense probably null
R1989:Mpo UTSW 11 87803472 missense probably damaging 1.00
R2107:Mpo UTSW 11 87796075 missense probably damaging 1.00
R2108:Mpo UTSW 11 87796075 missense probably damaging 1.00
R2130:Mpo UTSW 11 87797361 missense possibly damaging 0.90
R2132:Mpo UTSW 11 87797361 missense possibly damaging 0.90
R3930:Mpo UTSW 11 87801040 missense probably damaging 1.00
R3931:Mpo UTSW 11 87801040 missense probably damaging 1.00
R3941:Mpo UTSW 11 87797349 missense probably benign 0.02
R4323:Mpo UTSW 11 87796039 missense probably damaging 1.00
R4857:Mpo UTSW 11 87796281 missense probably benign
R4892:Mpo UTSW 11 87802681 missense probably benign 0.00
R5224:Mpo UTSW 11 87796457 unclassified probably benign
R5250:Mpo UTSW 11 87803433 missense probably benign 0.03
R5373:Mpo UTSW 11 87803611 critical splice donor site probably null
R5374:Mpo UTSW 11 87803611 critical splice donor site probably null
R5408:Mpo UTSW 11 87801025 splice site probably null
R5708:Mpo UTSW 11 87801755 splice site probably null
R6354:Mpo UTSW 11 87797346 missense possibly damaging 0.89
R6598:Mpo UTSW 11 87799972 missense probably benign 0.43
R6713:Mpo UTSW 11 87795368 missense probably damaging 1.00
R7053:Mpo UTSW 11 87803510 missense probably damaging 0.99
R7395:Mpo UTSW 11 87801124 missense probably damaging 1.00
R7573:Mpo UTSW 11 87797577 missense probably benign 0.01
R7924:Mpo UTSW 11 87794840 missense probably damaging 1.00
R8152:Mpo UTSW 11 87801649 missense probably benign
R8285:Mpo UTSW 11 87797567 missense probably benign 0.05
RF018:Mpo UTSW 11 87797639 missense probably damaging 1.00
Z1088:Mpo UTSW 11 87795245 missense probably benign 0.06
Posted On2013-12-03