Incidental Mutation 'R6243:Mpeg1'
ID 505413
Institutional Source Beutler Lab
Gene Symbol Mpeg1
Ensembl Gene ENSMUSG00000046805
Gene Name macrophage expressed gene 1
Synonyms MPS1, Perforin-2, Mpg-1
MMRRC Submission 044365-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R6243 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 12438143-12442647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12439604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 354 (H354R)
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 benign
Transcript: ENSMUST00000081035
AA Change: H354R

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: H354R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,450,809 (GRCm39) S331P probably damaging Het
Akap9 T G 5: 4,115,000 (GRCm39) probably null Het
Ankef1 A G 2: 136,379,077 (GRCm39) E9G probably damaging Het
Ap1g2 T C 14: 55,336,530 (GRCm39) E788G probably benign Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Asrgl1 A T 19: 9,093,868 (GRCm39) I220K probably damaging Het
Atg16l2 A C 7: 100,941,536 (GRCm39) *404E probably null Het
Atp4a T C 7: 30,415,382 (GRCm39) F334S possibly damaging Het
Atp6v0d1 T C 8: 106,292,495 (GRCm39) E17G probably benign Het
Bcat2 T C 7: 45,237,691 (GRCm39) V279A probably benign Het
Birc6 T G 17: 74,916,382 (GRCm39) M459R probably damaging Het
Bsn T C 9: 107,984,760 (GRCm39) Y3098C unknown Het
Btaf1 T A 19: 36,958,520 (GRCm39) M679K probably benign Het
Cirop T A 14: 54,933,216 (GRCm39) R322S probably damaging Het
Col6a4 T C 9: 105,890,589 (GRCm39) T1902A possibly damaging Het
Crhr1 G A 11: 104,064,740 (GRCm39) C364Y probably damaging Het
Crmp1 T C 5: 37,446,288 (GRCm39) L648P probably damaging Het
Cyfip1 T C 7: 55,550,277 (GRCm39) Y671H probably damaging Het
Cyp2b13 C T 7: 25,761,044 (GRCm39) P34S probably damaging Het
Dnajb6 T A 5: 29,986,131 (GRCm39) V233E probably benign Het
Dnhd1 A T 7: 105,301,216 (GRCm39) H191L probably damaging Het
Dsg3 T A 18: 20,672,781 (GRCm39) D817E probably damaging Het
Dytn T C 1: 63,686,680 (GRCm39) Q330R possibly damaging Het
Fads1 G T 19: 10,163,091 (GRCm39) E123* probably null Het
Fchsd2 T C 7: 100,921,016 (GRCm39) probably benign Het
Fmo9 T C 1: 166,494,938 (GRCm39) E270G probably benign Het
Folr1 T A 7: 101,513,172 (GRCm39) H41L probably damaging Het
Gm7298 A G 6: 121,756,096 (GRCm39) N985S possibly damaging Het
Gp1ba T C 11: 70,530,963 (GRCm39) probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Igf2bp3 A T 6: 49,084,362 (GRCm39) N285K possibly damaging Het
Lca5l G A 16: 95,980,112 (GRCm39) T6I possibly damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Msh6 T A 17: 88,290,999 (GRCm39) V195E possibly damaging Het
Mtfmt C T 9: 65,351,182 (GRCm39) T243I probably benign Het
Myo1h T A 5: 114,500,208 (GRCm39) I195K probably damaging Het
Nr1h5 T C 3: 102,856,380 (GRCm39) K300E probably benign Het
Nuak2 T C 1: 132,260,105 (GRCm39) S628P probably benign Het
Nup214 G T 2: 31,892,944 (GRCm39) A721S possibly damaging Het
Or12e13 A G 2: 87,663,385 (GRCm39) M1V probably null Het
Or5d47 A G 2: 87,804,931 (GRCm39) V26A probably benign Het
Pclo T C 5: 14,726,457 (GRCm39) probably benign Het
Phf20 A G 2: 156,065,320 (GRCm39) S12G probably benign Het
Pik3r5 T C 11: 68,382,826 (GRCm39) Y289H probably damaging Het
Pld1 T C 3: 28,149,954 (GRCm39) I717T probably damaging Het
Plxdc1 A G 11: 97,846,299 (GRCm39) Y182H probably damaging Het
Ppid A G 3: 79,510,373 (GRCm39) I354V probably benign Het
Prss2 T C 6: 41,501,387 (GRCm39) V152A probably benign Het
Rab28 C T 5: 41,793,223 (GRCm39) A141T probably benign Het
Rabgap1l C T 1: 160,472,877 (GRCm39) probably null Het
Rabl6 T G 2: 25,475,415 (GRCm39) S553R probably damaging Het
Rars1 A G 11: 35,717,374 (GRCm39) F170S possibly damaging Het
Ror2 T A 13: 53,267,116 (GRCm39) M440L probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsph4a A T 10: 33,785,139 (GRCm39) Q350L probably damaging Het
Serpinb2 T C 1: 107,450,869 (GRCm39) F204L probably damaging Het
Sertad4 T C 1: 192,533,257 (GRCm39) probably null Het
Shisa3 C T 5: 67,768,486 (GRCm39) P129S probably benign Het
Slc13a2 G A 11: 78,295,534 (GRCm39) L111F probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Stab2 T A 10: 86,743,025 (GRCm39) R1195W probably damaging Het
Syna C A 5: 134,588,968 (GRCm39) probably benign Het
Thada A T 17: 84,744,030 (GRCm39) D759E probably benign Het
Thoc5 A G 11: 4,869,753 (GRCm39) Y385C possibly damaging Het
Thsd7a C T 6: 12,327,601 (GRCm39) D1424N probably damaging Het
Thsd7b A T 1: 130,090,599 (GRCm39) Q1204L probably benign Het
Tnfrsf8 T C 4: 145,029,671 (GRCm39) N43S possibly damaging Het
Trim66 T C 7: 109,059,481 (GRCm39) K921R probably benign Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ugt2a2 T G 5: 87,610,818 (GRCm39) K339N probably benign Het
Vmn2r8 T C 5: 108,947,211 (GRCm39) T514A probably benign Het
Wrn A T 8: 33,774,682 (GRCm39) M652K possibly damaging Het
Yme1l1 A T 2: 23,083,184 (GRCm39) Y550F probably benign Het
Zfp995 G A 17: 22,099,269 (GRCm39) P322S probably damaging 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
IGL02447:Mpeg1 APN 19 12,440,156 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCACCTTAGAAACCTGGCAG -3'
(R):5'- ACGACTGTAACCCTCTTCATGG -3'

Sequencing Primer
(F):5'- GAAGGGCATCACTAACCACCTAGTG -3'
(R):5'- CCCTCTTCATGGGTCTGGGAG -3'
Posted On 2018-02-28