Incidental Mutation 'IGL02447:Mpeg1'
ID 294044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpeg1
Ensembl Gene ENSMUSG00000046805
Gene Name macrophage expressed gene 1
Synonyms MPS1, Perforin-2, Mpg-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL02447
Quality Score
Status
Chromosome 19
Chromosomal Location 12438143-12442647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 12440156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 538 (C538F)
Ref Sequence ENSEMBL: ENSMUSP00000108573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045521] [ENSMUST00000081035]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045521
SMART Domains Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982

DomainStartEndE-ValueType
WWE 5 86 1.38e-38 SMART
WWE 88 163 6.72e-28 SMART
low complexity region 175 192 N/A INTRINSIC
low complexity region 372 386 N/A INTRINSIC
RING 406 464 2.2e-6 SMART
Blast:RING 510 532 3e-7 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000081035
AA Change: C538F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: C538F

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
MACPF 151 350 2.13e-58 SMART
transmembrane domain 661 683 N/A INTRINSIC
low complexity region 685 698 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 T A 4: 144,401,269 (GRCm39) I72F probably benign Het
Abhd18 T A 3: 40,888,208 (GRCm39) F351I probably benign Het
Agfg1 T A 1: 82,859,944 (GRCm39) probably benign Het
Antxr2 C T 5: 98,178,267 (GRCm39) V48I possibly damaging Het
Bcl9l T C 9: 44,418,631 (GRCm39) M823T probably benign Het
Card11 G A 5: 140,892,679 (GRCm39) H129Y possibly damaging Het
Ccr1 A T 9: 123,763,753 (GRCm39) V259E probably benign Het
Cdk13 G T 13: 17,947,001 (GRCm39) P586T probably benign Het
Cep295 C T 9: 15,243,807 (GRCm39) V1502I probably damaging Het
Csnk1g3 T C 18: 54,028,942 (GRCm39) S32P probably benign Het
Dpysl4 G A 7: 138,678,516 (GRCm39) R492Q probably damaging Het
Duox2 A G 2: 122,127,949 (GRCm39) L78P probably damaging Het
Gm7361 T C 5: 26,462,853 (GRCm39) S32P probably benign Het
Grip1 T A 10: 119,855,976 (GRCm39) V234E probably damaging Het
Herc1 A T 9: 66,404,610 (GRCm39) I4477L possibly damaging Het
Il18r1 G A 1: 40,537,497 (GRCm39) probably null Het
Itpkb A G 1: 180,248,919 (GRCm39) probably benign Het
Jag2 T C 12: 112,876,232 (GRCm39) Y799C probably damaging Het
Jak2 A G 19: 29,277,014 (GRCm39) K857R probably damaging Het
Kbtbd12 A T 6: 88,595,676 (GRCm39) S51R probably damaging Het
Kcnc2 T G 10: 112,291,851 (GRCm39) D346E probably damaging Het
Kcnh1 T A 1: 191,907,224 (GRCm39) M92K possibly damaging Het
Kcnk1 A G 8: 126,751,819 (GRCm39) I142V probably damaging Het
Lsm11 T C 11: 45,828,191 (GRCm39) N196D probably damaging Het
Nrap G A 19: 56,333,951 (GRCm39) Q969* probably null Het
Nt5el A T 13: 105,236,967 (GRCm39) S73C probably damaging Het
Nup205 T C 6: 35,204,511 (GRCm39) probably null Het
Pdcd5 A G 7: 35,342,110 (GRCm39) V166A possibly damaging Het
Plcb2 A T 2: 118,543,636 (GRCm39) I745N probably damaging Het
Ptprt T C 2: 162,120,027 (GRCm39) T147A probably benign Het
Rbp3 A T 14: 33,676,460 (GRCm39) D136V probably damaging Het
Ripor3 G T 2: 167,834,750 (GRCm39) T247N probably damaging Het
Sgcd A C 11: 46,870,082 (GRCm39) probably benign Het
Slc26a6 T C 9: 108,734,251 (GRCm39) Y211H probably benign Het
Slc37a3 T A 6: 39,314,129 (GRCm39) E494D probably benign Het
Smc5 T C 19: 23,234,856 (GRCm39) E326G probably benign Het
Tctn2 T C 5: 124,753,316 (GRCm39) noncoding transcript Het
Tk2 T A 8: 104,967,770 (GRCm39) N93I probably damaging Het
Tmed6 A G 8: 107,792,240 (GRCm39) F2L possibly damaging Het
Tox3 A G 8: 90,984,781 (GRCm39) probably benign Het
Tspan9 T C 6: 127,941,401 (GRCm39) Y237C probably benign Het
Ubqlnl A G 7: 103,797,856 (GRCm39) L547P probably damaging Het
Uggt1 T C 1: 36,189,223 (GRCm39) D1421G probably damaging Het
Unc80 T A 1: 66,542,703 (GRCm39) I319K possibly damaging Het
Vac14 A G 8: 111,380,260 (GRCm39) D441G probably benign Het
Vamp8 C T 6: 72,365,316 (GRCm39) V5M probably damaging Het
Yeats2 T A 16: 20,012,429 (GRCm39) H560Q probably benign Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp773 G T 7: 7,139,655 (GRCm39) probably benign Het
Other mutations in Mpeg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Mpeg1 APN 19 12,440,074 (GRCm39) missense probably benign 0.39
IGL00902:Mpeg1 APN 19 12,439,133 (GRCm39) missense probably damaging 1.00
IGL01141:Mpeg1 APN 19 12,440,149 (GRCm39) missense probably damaging 1.00
IGL02037:Mpeg1 APN 19 12,440,660 (GRCm39) missense probably benign 0.04
IGL02448:Mpeg1 APN 19 12,439,973 (GRCm39) missense probably benign
IGL02510:Mpeg1 APN 19 12,438,788 (GRCm39) missense probably damaging 1.00
IGL03068:Mpeg1 APN 19 12,439,570 (GRCm39) missense probably benign 0.01
avoirdupois UTSW 19 12,440,419 (GRCm39) missense probably damaging 1.00
R0128:Mpeg1 UTSW 19 12,438,587 (GRCm39) missense probably benign 0.00
R0310:Mpeg1 UTSW 19 12,439,055 (GRCm39) missense probably benign 0.00
R0312:Mpeg1 UTSW 19 12,439,767 (GRCm39) missense probably damaging 1.00
R0522:Mpeg1 UTSW 19 12,439,123 (GRCm39) missense probably damaging 0.99
R1356:Mpeg1 UTSW 19 12,438,689 (GRCm39) missense probably damaging 0.98
R1396:Mpeg1 UTSW 19 12,440,168 (GRCm39) missense probably damaging 1.00
R1436:Mpeg1 UTSW 19 12,439,823 (GRCm39) missense probably damaging 0.98
R1497:Mpeg1 UTSW 19 12,438,611 (GRCm39) missense probably benign 0.04
R1714:Mpeg1 UTSW 19 12,440,198 (GRCm39) missense probably damaging 1.00
R1846:Mpeg1 UTSW 19 12,440,486 (GRCm39) missense probably benign 0.00
R1856:Mpeg1 UTSW 19 12,439,720 (GRCm39) missense probably benign 0.04
R1933:Mpeg1 UTSW 19 12,440,011 (GRCm39) nonsense probably null
R1959:Mpeg1 UTSW 19 12,440,275 (GRCm39) missense probably damaging 1.00
R1960:Mpeg1 UTSW 19 12,440,275 (GRCm39) missense probably damaging 1.00
R1961:Mpeg1 UTSW 19 12,440,275 (GRCm39) missense probably damaging 1.00
R2240:Mpeg1 UTSW 19 12,440,402 (GRCm39) missense probably damaging 0.98
R2474:Mpeg1 UTSW 19 12,439,613 (GRCm39) missense probably damaging 1.00
R3430:Mpeg1 UTSW 19 12,440,492 (GRCm39) missense probably benign 0.22
R4079:Mpeg1 UTSW 19 12,439,634 (GRCm39) missense probably damaging 0.99
R4245:Mpeg1 UTSW 19 12,440,272 (GRCm39) missense probably damaging 0.99
R4451:Mpeg1 UTSW 19 12,440,596 (GRCm39) nonsense probably null
R4888:Mpeg1 UTSW 19 12,440,434 (GRCm39) missense probably damaging 1.00
R4980:Mpeg1 UTSW 19 12,438,904 (GRCm39) missense probably damaging 1.00
R5071:Mpeg1 UTSW 19 12,438,545 (GRCm39) start codon destroyed probably null 0.02
R5089:Mpeg1 UTSW 19 12,440,361 (GRCm39) missense probably benign 0.00
R5120:Mpeg1 UTSW 19 12,438,793 (GRCm39) nonsense probably null
R5327:Mpeg1 UTSW 19 12,439,013 (GRCm39) missense probably damaging 1.00
R5490:Mpeg1 UTSW 19 12,439,057 (GRCm39) missense probably damaging 0.99
R5725:Mpeg1 UTSW 19 12,440,000 (GRCm39) missense probably benign 0.13
R6147:Mpeg1 UTSW 19 12,440,258 (GRCm39) missense probably damaging 1.00
R6243:Mpeg1 UTSW 19 12,439,604 (GRCm39) missense probably benign 0.26
R6486:Mpeg1 UTSW 19 12,439,469 (GRCm39) missense probably damaging 1.00
R6520:Mpeg1 UTSW 19 12,439,322 (GRCm39) missense probably benign 0.04
R7139:Mpeg1 UTSW 19 12,439,078 (GRCm39) missense probably benign 0.07
R7204:Mpeg1 UTSW 19 12,440,258 (GRCm39) missense probably damaging 1.00
R7310:Mpeg1 UTSW 19 12,439,615 (GRCm39) missense probably damaging 0.99
R7665:Mpeg1 UTSW 19 12,440,458 (GRCm39) missense probably damaging 1.00
R7674:Mpeg1 UTSW 19 12,438,751 (GRCm39) missense probably benign
R8388:Mpeg1 UTSW 19 12,440,278 (GRCm39) missense probably damaging 1.00
R8749:Mpeg1 UTSW 19 12,439,291 (GRCm39) missense probably benign 0.08
R8755:Mpeg1 UTSW 19 12,439,238 (GRCm39) missense probably damaging 0.98
R8773:Mpeg1 UTSW 19 12,440,419 (GRCm39) missense probably damaging 1.00
R8808:Mpeg1 UTSW 19 12,440,443 (GRCm39) missense probably damaging 1.00
R9037:Mpeg1 UTSW 19 12,439,190 (GRCm39) missense probably damaging 1.00
R9110:Mpeg1 UTSW 19 12,440,014 (GRCm39) missense probably benign
R9280:Mpeg1 UTSW 19 12,439,828 (GRCm39) missense probably benign 0.07
X0064:Mpeg1 UTSW 19 12,439,336 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16