Incidental Mutation 'R4079:Mpeg1'
ID 316785
Institutional Source Beutler Lab
Gene Symbol Mpeg1
Ensembl Gene ENSMUSG00000046805
Gene Name macrophage expressed gene 1
Synonyms MPS1, Mpg-1
MMRRC Submission 040976-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4079 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 12460779-12465284 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12462270 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 364 (N364S)
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: N364S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: N364S

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 0.7110 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 C G 4: 126,353,680 (GRCm38) probably null Het
Ankfy1 C A 11: 72,690,009 (GRCm38) probably benign Het
Ap4b1 T A 3: 103,813,378 (GRCm38) N121K probably damaging Het
Arhgef12 T C 9: 42,975,292 (GRCm38) M1131V probably damaging Het
Arl5c A T 11: 97,993,501 (GRCm38) I88N probably damaging Het
Armc9 A T 1: 86,213,129 (GRCm38) probably benign Het
Bnc1 T C 7: 81,973,760 (GRCm38) E573G probably damaging Het
Btaf1 A G 19: 36,986,479 (GRCm38) T817A probably benign Het
C3 C T 17: 57,205,303 (GRCm38) D1542N possibly damaging Het
Cadm3 A G 1: 173,341,669 (GRCm38) V293A probably benign Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Cbfa2t3 A G 8: 122,647,695 (GRCm38) probably null Het
Ccdc18 C T 5: 108,158,528 (GRCm38) Q270* probably null Het
Cdc45 A T 16: 18,811,360 (GRCm38) V19D probably damaging Het
Cfap57 C A 4: 118,598,997 (GRCm38) S500I probably benign Het
Cnga3 A T 1: 37,241,865 (GRCm38) Q47L possibly damaging Het
Corin T C 5: 72,503,883 (GRCm38) D89G probably benign Het
Cox16 A T 12: 81,474,335 (GRCm38) probably benign Het
Cyp2a4 A G 7: 26,307,366 (GRCm38) N50S probably benign Het
Diaph1 T A 18: 37,853,583 (GRCm38) E1116D possibly damaging Het
Dlg5 T C 14: 24,148,260 (GRCm38) D1535G possibly damaging Het
Enpp1 A G 10: 24,669,007 (GRCm38) probably null Het
F13b T A 1: 139,501,770 (GRCm38) F9I unknown Het
Fcer1a C T 1: 173,225,353 (GRCm38) C36Y probably damaging Het
Fcho2 A G 13: 98,755,612 (GRCm38) V318A probably damaging Het
Fzd9 A G 5: 135,249,636 (GRCm38) V465A probably benign Het
Gm10354 A T 5: 14,977,649 (GRCm38) L71Q probably damaging Het
Hbs1l T C 10: 21,352,602 (GRCm38) V493A probably damaging Het
Hgs T A 11: 120,483,048 (GRCm38) S723T probably benign Het
Hnrnpul1 C T 7: 25,726,875 (GRCm38) R517Q probably damaging Het
Kpna7 A G 5: 145,005,927 (GRCm38) I83T possibly damaging Het
Llgl1 C A 11: 60,710,284 (GRCm38) probably null Het
Lrig3 A C 10: 126,009,787 (GRCm38) E695A probably damaging Het
Lrpap1 A G 5: 35,096,037 (GRCm38) I261T possibly damaging Het
Mfn1 T G 3: 32,542,849 (GRCm38) L152W probably damaging Het
Mog A G 17: 37,012,410 (GRCm38) F212S probably damaging Het
Mtmr3 C T 11: 4,491,057 (GRCm38) R531Q probably damaging Het
Mx2 A G 16: 97,556,036 (GRCm38) N443S probably damaging Het
Nfatc3 T C 8: 106,079,491 (GRCm38) Y323H probably damaging Het
Nup188 G A 2: 30,309,878 (GRCm38) D305N probably damaging Het
Obscn A G 11: 59,038,363 (GRCm38) V6145A probably benign Het
Olfr1037 A G 2: 86,085,312 (GRCm38) V155A possibly damaging Het
Olfr686 A T 7: 105,204,021 (GRCm38) H107Q probably damaging Het
Patl1 C T 19: 11,931,630 (GRCm38) A467V probably damaging Het
Pdss2 A T 10: 43,402,522 (GRCm38) M342L probably benign Het
Phax A G 18: 56,575,979 (GRCm38) N183S possibly damaging Het
Pnck A T X: 73,658,155 (GRCm38) V93E probably damaging Het
Prol1 A G 5: 88,328,216 (GRCm38) N155S unknown Het
Ptprk G A 10: 28,263,512 (GRCm38) V78I probably benign Het
Ptpru A T 4: 131,798,710 (GRCm38) probably null Het
Ptprv A G 1: 135,110,430 (GRCm38) noncoding transcript Het
Ranbp3l A G 15: 9,060,757 (GRCm38) N233S probably damaging Het
Rapgefl1 A G 11: 98,849,977 (GRCm38) T552A probably benign Het
Rasgrp1 A G 2: 117,285,029 (GRCm38) S693P probably benign Het
Scyl2 A T 10: 89,640,596 (GRCm38) M889K probably benign Het
Serpina3a C T 12: 104,119,675 (GRCm38) Q320* probably null Het
Slc12a1 A T 2: 125,200,623 (GRCm38) N733I possibly damaging Het
Snap47 C T 11: 59,428,551 (GRCm38) V254I probably benign Het
St6galnac2 A T 11: 116,681,898 (GRCm38) L244Q possibly damaging Het
Syce1 C A 7: 140,779,896 (GRCm38) L83F probably damaging Het
Tjp2 A T 19: 24,108,818 (GRCm38) V780E possibly damaging Het
Tns1 G A 1: 73,995,308 (GRCm38) R192C probably damaging Het
Trav6-3 T C 14: 53,430,080 (GRCm38) L3P possibly damaging Het
Ung G T 5: 114,130,623 (GRCm38) probably null Het
Usp32 T A 11: 85,039,229 (GRCm38) Y574F probably damaging Het
Other mutations in Mpeg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Mpeg1 APN 19 12,462,710 (GRCm38) missense probably benign 0.39
IGL00902:Mpeg1 APN 19 12,461,769 (GRCm38) missense probably damaging 1.00
IGL01141:Mpeg1 APN 19 12,462,785 (GRCm38) missense probably damaging 1.00
IGL02037:Mpeg1 APN 19 12,463,296 (GRCm38) missense probably benign 0.04
IGL02447:Mpeg1 APN 19 12,462,792 (GRCm38) missense probably damaging 1.00
IGL02448:Mpeg1 APN 19 12,462,609 (GRCm38) missense probably benign
IGL02510:Mpeg1 APN 19 12,461,424 (GRCm38) missense probably damaging 1.00
IGL03068:Mpeg1 APN 19 12,462,206 (GRCm38) missense probably benign 0.01
avoirdupois UTSW 19 12,463,055 (GRCm38) missense probably damaging 1.00
R0128:Mpeg1 UTSW 19 12,461,223 (GRCm38) missense probably benign 0.00
R0310:Mpeg1 UTSW 19 12,461,691 (GRCm38) missense probably benign 0.00
R0312:Mpeg1 UTSW 19 12,462,403 (GRCm38) missense probably damaging 1.00
R0522:Mpeg1 UTSW 19 12,461,759 (GRCm38) missense probably damaging 0.99
R1356:Mpeg1 UTSW 19 12,461,325 (GRCm38) missense probably damaging 0.98
R1396:Mpeg1 UTSW 19 12,462,804 (GRCm38) missense probably damaging 1.00
R1436:Mpeg1 UTSW 19 12,462,459 (GRCm38) missense probably damaging 0.98
R1497:Mpeg1 UTSW 19 12,461,247 (GRCm38) missense probably benign 0.04
R1714:Mpeg1 UTSW 19 12,462,834 (GRCm38) missense probably damaging 1.00
R1846:Mpeg1 UTSW 19 12,463,122 (GRCm38) missense probably benign 0.00
R1856:Mpeg1 UTSW 19 12,462,356 (GRCm38) missense probably benign 0.04
R1933:Mpeg1 UTSW 19 12,462,647 (GRCm38) nonsense probably null
R1959:Mpeg1 UTSW 19 12,462,911 (GRCm38) missense probably damaging 1.00
R1960:Mpeg1 UTSW 19 12,462,911 (GRCm38) missense probably damaging 1.00
R1961:Mpeg1 UTSW 19 12,462,911 (GRCm38) missense probably damaging 1.00
R2240:Mpeg1 UTSW 19 12,463,038 (GRCm38) missense probably damaging 0.98
R2474:Mpeg1 UTSW 19 12,462,249 (GRCm38) missense probably damaging 1.00
R3430:Mpeg1 UTSW 19 12,463,128 (GRCm38) missense probably benign 0.22
R4245:Mpeg1 UTSW 19 12,462,908 (GRCm38) missense probably damaging 0.99
R4451:Mpeg1 UTSW 19 12,463,232 (GRCm38) nonsense probably null
R4888:Mpeg1 UTSW 19 12,463,070 (GRCm38) missense probably damaging 1.00
R4980:Mpeg1 UTSW 19 12,461,540 (GRCm38) missense probably damaging 1.00
R5071:Mpeg1 UTSW 19 12,461,181 (GRCm38) start codon destroyed probably null 0.02
R5089:Mpeg1 UTSW 19 12,462,997 (GRCm38) missense probably benign 0.00
R5120:Mpeg1 UTSW 19 12,461,429 (GRCm38) nonsense probably null
R5327:Mpeg1 UTSW 19 12,461,649 (GRCm38) missense probably damaging 1.00
R5490:Mpeg1 UTSW 19 12,461,693 (GRCm38) missense probably damaging 0.99
R5725:Mpeg1 UTSW 19 12,462,636 (GRCm38) missense probably benign 0.13
R6147:Mpeg1 UTSW 19 12,462,894 (GRCm38) missense probably damaging 1.00
R6243:Mpeg1 UTSW 19 12,462,240 (GRCm38) missense probably benign 0.26
R6486:Mpeg1 UTSW 19 12,462,105 (GRCm38) missense probably damaging 1.00
R6520:Mpeg1 UTSW 19 12,461,958 (GRCm38) missense probably benign 0.04
R7139:Mpeg1 UTSW 19 12,461,714 (GRCm38) missense probably benign 0.07
R7204:Mpeg1 UTSW 19 12,462,894 (GRCm38) missense probably damaging 1.00
R7310:Mpeg1 UTSW 19 12,462,251 (GRCm38) missense probably damaging 0.99
R7665:Mpeg1 UTSW 19 12,463,094 (GRCm38) missense probably damaging 1.00
R7674:Mpeg1 UTSW 19 12,461,387 (GRCm38) missense probably benign
R8388:Mpeg1 UTSW 19 12,462,914 (GRCm38) missense probably damaging 1.00
R8749:Mpeg1 UTSW 19 12,461,927 (GRCm38) missense probably benign 0.08
R8755:Mpeg1 UTSW 19 12,461,874 (GRCm38) missense probably damaging 0.98
R8773:Mpeg1 UTSW 19 12,463,055 (GRCm38) missense probably damaging 1.00
R8808:Mpeg1 UTSW 19 12,463,079 (GRCm38) missense probably damaging 1.00
R9037:Mpeg1 UTSW 19 12,461,826 (GRCm38) missense probably damaging 1.00
R9110:Mpeg1 UTSW 19 12,462,650 (GRCm38) missense probably benign
R9280:Mpeg1 UTSW 19 12,462,464 (GRCm38) missense probably benign 0.07
X0064:Mpeg1 UTSW 19 12,461,972 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTGGCAATAGACCGTGCTG -3'
(R):5'- TTTACATTCCAGACGACTGTAACCC -3'

Sequencing Primer
(F):5'- CAATAGACCGTGCTGGCTTG -3'
(R):5'- AGACGACTGTAACCCTCTTCATGG -3'
Posted On 2015-05-15