Incidental Mutation 'R0522:Mpeg1'
ID 48664
Institutional Source Beutler Lab
Gene Symbol Mpeg1
Ensembl Gene ENSMUSG00000046805
Gene Name macrophage expressed gene 1
Synonyms MPS1, Perforin-2, Mpg-1
MMRRC Submission 038715-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0522 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 12438143-12442647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12439123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 194 (T194A)
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: T194A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: T194A

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 0.7262 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 A G 8: 84,456,805 (GRCm39) I192T probably benign Het
Adgrl3 T C 5: 81,874,648 (GRCm39) Y982H possibly damaging Het
Adgrv1 T A 13: 81,676,561 (GRCm39) probably benign Het
Alms1 T C 6: 85,598,597 (GRCm39) V1610A probably benign Het
Ankrd24 T C 10: 81,472,189 (GRCm39) probably benign Het
C2cd3 A G 7: 100,044,429 (GRCm39) N337S probably benign Het
Cdc40 T C 10: 40,733,608 (GRCm39) Y114C probably benign Het
Cdhr1 A T 14: 36,815,957 (GRCm39) probably null Het
Cfc1 G A 1: 34,576,234 (GRCm39) C98Y probably damaging Het
Cyp11b2 A T 15: 74,723,533 (GRCm39) probably benign Het
Cyth4 C A 15: 78,499,985 (GRCm39) H255Q possibly damaging Het
Degs1l A C 1: 180,887,312 (GRCm39) D299A probably damaging Het
Dip2a T C 10: 76,157,365 (GRCm39) K80R probably benign Het
Dnajb5 G T 4: 42,957,083 (GRCm39) D257Y probably damaging Het
Dynll1 T C 5: 115,438,565 (GRCm39) probably benign Het
Edn1 T A 13: 42,458,430 (GRCm39) V81E probably damaging Het
F5 T C 1: 164,039,332 (GRCm39) S1981P probably damaging Het
Fam186b T A 15: 99,178,400 (GRCm39) M309L probably benign Het
Gm14221 G A 2: 160,416,597 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,267,328 (GRCm39) probably benign Het
Golgb1 AAGAGAGAGAGAGAGA AAGAGAGAGAGAGA 16: 36,735,567 (GRCm39) probably null Het
Gpr176 A G 2: 118,114,493 (GRCm39) C106R probably damaging Het
Hdac7 A T 15: 97,704,560 (GRCm39) probably null Het
Hlx T C 1: 184,463,837 (GRCm39) S168G probably damaging Het
Hnf1a G T 5: 115,088,747 (GRCm39) probably benign Het
Hp1bp3 C T 4: 137,949,472 (GRCm39) L19F possibly damaging Het
Hspa14 T A 2: 3,512,086 (GRCm39) T63S probably damaging Het
Insrr C T 3: 87,708,179 (GRCm39) S207F probably damaging Het
Jak3 C A 8: 72,134,918 (GRCm39) probably benign Het
Jmjd7 G A 2: 119,860,822 (GRCm39) A91T probably damaging Het
Lgals9 G T 11: 78,856,638 (GRCm39) H265Q possibly damaging Het
Lrriq1 T G 10: 102,997,638 (GRCm39) N1326H probably damaging Het
Mdn1 C A 4: 32,672,837 (GRCm39) Q486K probably benign Het
Nek5 T A 8: 22,578,813 (GRCm39) probably benign Het
Pcgf2 A C 11: 97,582,873 (GRCm39) I135M probably benign Het
Phactr1 G T 13: 43,213,067 (GRCm39) A222S probably benign Het
Pla2r1 T C 2: 60,309,859 (GRCm39) S575G probably benign Het
Plcg2 T C 8: 118,341,027 (GRCm39) probably null Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Polg A G 7: 79,109,899 (GRCm39) probably benign Het
Poteg T G 8: 27,939,986 (GRCm39) L48V possibly damaging Het
Prmt1 A T 7: 44,631,203 (GRCm39) C50S probably benign Het
Prx T A 7: 27,217,620 (GRCm39) V707E probably damaging Het
Rrp12 C T 19: 41,863,144 (GRCm39) probably benign Het
Saxo1 A T 4: 86,363,340 (GRCm39) V381E probably damaging Het
Sh2d2a T C 3: 87,754,416 (GRCm39) probably null Het
Slc26a5 A C 5: 22,051,343 (GRCm39) I57R probably damaging Het
Slc38a3 T A 9: 107,532,412 (GRCm39) probably null Het
Slc5a4b T C 10: 75,926,534 (GRCm39) T188A probably damaging Het
Slc7a13 A G 4: 19,824,010 (GRCm39) I260V probably benign Het
Smg8 A T 11: 86,977,288 (GRCm39) S98T probably benign Het
Spart T A 3: 55,035,786 (GRCm39) S548R probably damaging Het
Sult6b1 C T 17: 79,212,958 (GRCm39) G98S probably damaging Het
Tbc1d2 A G 4: 46,649,806 (GRCm39) Y77H probably damaging Het
Tet2 T A 3: 133,172,565 (GRCm39) D1899V probably damaging Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Uap1l1 T C 2: 25,253,289 (GRCm39) E382G probably damaging Het
Ugt1a10 C T 1: 88,145,971 (GRCm39) P473L probably damaging Het
Ugt1a9 T C 1: 87,999,114 (GRCm39) V188A probably damaging Het
Virma T C 4: 11,519,416 (GRCm39) probably null Het
Xrcc6 T C 15: 81,906,793 (GRCm39) probably benign Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null Het
Zfp804b T A 5: 6,822,014 (GRCm39) T350S probably benign Het
Zfp959 G T 17: 56,203,201 (GRCm39) R61M probably null 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
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
Predicted Primers PCR Primer
(F):5'- CCAGAGTCAACGGCAAGTTCTCTAC -3'
(R):5'- GATGCCCTTCTGCCAGGTTTCTAAG -3'

Sequencing Primer
(F):5'- GCAAGTTCTCTACTGAGTTCCAAAG -3'
(R):5'- ACAGGTAGTCCTTCGTCAAACTG -3'
Posted On 2013-06-12