Incidental Mutation 'R0519:Mug1'
ID 48385
Institutional Source Beutler Lab
Gene Symbol Mug1
Ensembl Gene ENSMUSG00000059908
Gene Name murinoglobulin 1
Synonyms
MMRRC Submission 038712-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0519 (G1)
Quality Score 212
Status Validated
Chromosome 6
Chromosomal Location 121815500-121866016 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121828383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 265 (K265R)
Ref Sequence ENSEMBL: ENSMUSP00000032228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032228]
AlphaFold P28665
Predicted Effect possibly damaging
Transcript: ENSMUST00000032228
AA Change: K265R

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: K265R

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:A2M_N 128 221 5e-21 PFAM
A2M_N_2 449 599 2.55e-41 SMART
A2M 740 830 5.43e-36 SMART
Pfam:Thiol-ester_cl 963 992 1e-18 PFAM
Pfam:A2M_comp 1012 1268 5.4e-94 PFAM
A2M_recep 1378 1465 4.14e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204943
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 99% (74/75)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and phenotypically normal under standard conditions but show increased mortality in response to diet-induced acute pancreatitis along with hepatic cell necrosis and inflammatory infiltration, andincreased plasma amylase and lipase levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,696,067 (GRCm39) R168G probably benign Het
2810004N23Rik C T 8: 125,566,668 (GRCm39) G251R possibly damaging Het
3425401B19Rik A G 14: 32,384,919 (GRCm39) S349P possibly damaging Het
Ackr4 A G 9: 103,976,650 (GRCm39) V99A probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Asxl3 A G 18: 22,656,577 (GRCm39) Q1529R possibly damaging Het
Atg12 T C 18: 46,874,477 (GRCm39) E46G probably benign Het
Cdcp2 A G 4: 106,964,389 (GRCm39) probably benign Het
Clasrp A G 7: 19,318,089 (GRCm39) probably benign Het
Clip2 A G 5: 134,545,005 (GRCm39) V383A probably benign Het
Cntln C T 4: 84,923,290 (GRCm39) probably benign Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Csmd2 A C 4: 128,380,798 (GRCm39) Y2118S possibly damaging Het
Dip2c T A 13: 9,613,244 (GRCm39) V415E probably damaging Het
Dpy19l2 C T 9: 24,469,391 (GRCm39) R755Q probably benign Het
Dsn1 A T 2: 156,840,633 (GRCm39) probably benign Het
Dtd2 T C 12: 52,051,742 (GRCm39) probably benign Het
Dync1i1 A G 6: 6,027,399 (GRCm39) T602A probably benign Het
Ercc6 A C 14: 32,248,799 (GRCm39) D450A probably damaging Het
Fgf12 A T 16: 28,008,380 (GRCm39) V104D probably benign Het
Frem1 A T 4: 82,888,870 (GRCm39) probably null Het
Gcgr G T 11: 120,426,982 (GRCm39) W88L probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Hapln1 A G 13: 89,732,835 (GRCm39) probably benign Het
Hmgn3 T C 9: 82,994,301 (GRCm39) E40G probably damaging Het
Hsdl1 G A 8: 120,292,450 (GRCm39) A255V probably damaging Het
Hyls1 T C 9: 35,472,499 (GRCm39) K306E probably damaging Het
Jcad C T 18: 4,649,122 (GRCm39) probably benign Het
Kif14 C A 1: 136,396,885 (GRCm39) A397E probably damaging Het
Lcmt2 A T 2: 120,969,825 (GRCm39) probably null Het
Lifr T C 15: 7,207,061 (GRCm39) L524P probably damaging Het
Ly6g6f T C 17: 35,301,828 (GRCm39) K209E possibly damaging Het
Macf1 G A 4: 123,365,113 (GRCm39) T1651I probably benign Het
Mapk4 T C 18: 74,103,392 (GRCm39) D39G probably damaging Het
Mbl1 A G 14: 40,880,522 (GRCm39) M137V probably damaging Het
Mcm10 G A 2: 5,013,356 (GRCm39) S92L probably benign Het
Mxra7 A G 11: 116,701,612 (GRCm39) probably null Het
Neu3 G A 7: 99,472,524 (GRCm39) probably benign Het
Nsd1 A G 13: 55,460,648 (GRCm39) T2395A probably benign Het
Or1j1 T A 2: 36,702,627 (GRCm39) H159L probably damaging Het
Or5m9 A T 2: 85,877,411 (GRCm39) Y195F probably benign Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Or7g34 A T 9: 19,478,245 (GRCm39) I145N probably benign Het
Osgepl1 T C 1: 53,360,255 (GRCm39) V327A probably damaging Het
Pcdhb21 T C 18: 37,649,085 (GRCm39) V738A possibly damaging Het
Plekha8 A T 6: 54,599,092 (GRCm39) probably benign Het
Ptprq A C 10: 107,374,781 (GRCm39) probably benign Het
Pus10 T A 11: 23,661,201 (GRCm39) F263Y probably benign Het
Rad54b A T 4: 11,599,809 (GRCm39) I338F probably damaging Het
Rad54l2 A G 9: 106,585,498 (GRCm39) F756L probably damaging Het
Scn11a A G 9: 119,619,185 (GRCm39) L719P probably damaging Het
Slc2a2 G A 3: 28,772,965 (GRCm39) V253I possibly damaging Het
Slc39a4 A T 15: 76,499,338 (GRCm39) N192K probably benign Het
Soat1 T A 1: 156,268,816 (GRCm39) I245F probably damaging Het
Sorcs2 G A 5: 36,188,534 (GRCm39) A858V probably benign Het
Tcim T C 8: 24,928,651 (GRCm39) T88A possibly damaging Het
Tecta G A 9: 42,259,188 (GRCm39) probably benign Het
Tgm5 C A 2: 120,879,376 (GRCm39) L553F probably damaging Het
Tjp1 A G 7: 64,952,669 (GRCm39) V1555A probably benign Het
Tmem214 A C 5: 31,027,012 (GRCm39) M1L probably null Het
Togaram1 T C 12: 65,012,776 (GRCm39) probably benign Het
Topaz1 C A 9: 122,578,544 (GRCm39) L485I possibly damaging Het
Ttn T C 2: 76,548,626 (GRCm39) probably benign Het
Ube2o A G 11: 116,437,285 (GRCm39) probably null Het
Ubr7 T A 12: 102,734,465 (GRCm39) D246E probably benign Het
Vcpkmt T C 12: 69,629,102 (GRCm39) D132G probably benign Het
Vmn2r111 T A 17: 22,792,102 (GRCm39) Q51H probably benign Het
Vmn2r95 C T 17: 18,659,765 (GRCm39) P170S probably damaging Het
Zbtb38 A G 9: 96,567,826 (GRCm39) I1086T probably damaging Het
Zfp444 G A 7: 6,191,172 (GRCm39) A118T probably benign Het
Zp2 A G 7: 119,737,372 (GRCm39) I272T probably damaging Het
Other mutations in Mug1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Mug1 APN 6 121,842,768 (GRCm39) missense probably damaging 1.00
IGL00485:Mug1 APN 6 121,864,375 (GRCm39) missense probably benign 0.17
IGL00816:Mug1 APN 6 121,859,597 (GRCm39) missense probably damaging 0.99
IGL01140:Mug1 APN 6 121,859,693 (GRCm39) missense probably benign 0.01
IGL01141:Mug1 APN 6 121,847,458 (GRCm39) missense probably benign 0.08
IGL01384:Mug1 APN 6 121,826,433 (GRCm39) splice site probably benign
IGL01659:Mug1 APN 6 121,847,619 (GRCm39) splice site probably benign
IGL02049:Mug1 APN 6 121,848,295 (GRCm39) missense probably benign
IGL02151:Mug1 APN 6 121,861,649 (GRCm39) critical splice donor site probably null
IGL02315:Mug1 APN 6 121,817,126 (GRCm39) missense probably benign
IGL02629:Mug1 APN 6 121,817,024 (GRCm39) missense possibly damaging 0.62
IGL02642:Mug1 APN 6 121,859,544 (GRCm39) missense probably benign 0.14
IGL02807:Mug1 APN 6 121,863,531 (GRCm39) missense probably damaging 0.96
IGL02932:Mug1 APN 6 121,864,386 (GRCm39) missense probably benign 0.35
IGL03232:Mug1 APN 6 121,855,494 (GRCm39) missense probably benign 0.00
R1462_Mug1_304 UTSW 6 121,859,588 (GRCm39) missense probably benign 0.41
R2341_Mug1_749 UTSW 6 121,861,588 (GRCm39) missense probably benign 0.06
R4261_Mug1_652 UTSW 6 121,850,693 (GRCm39) missense probably benign
R6173_mug1_139 UTSW 6 121,840,752 (GRCm39) missense probably damaging 0.99
IGL03050:Mug1 UTSW 6 121,857,530 (GRCm39) missense possibly damaging 0.90
R0101:Mug1 UTSW 6 121,861,206 (GRCm39) missense possibly damaging 0.59
R0194:Mug1 UTSW 6 121,817,066 (GRCm39) missense probably damaging 0.98
R0196:Mug1 UTSW 6 121,815,684 (GRCm39) critical splice donor site probably null
R0325:Mug1 UTSW 6 121,826,801 (GRCm39) missense probably benign
R0332:Mug1 UTSW 6 121,826,856 (GRCm39) splice site probably null
R0377:Mug1 UTSW 6 121,834,320 (GRCm39) missense probably benign 0.02
R0393:Mug1 UTSW 6 121,826,809 (GRCm39) missense possibly damaging 0.64
R0414:Mug1 UTSW 6 121,833,513 (GRCm39) missense probably benign 0.00
R0457:Mug1 UTSW 6 121,838,514 (GRCm39) missense probably benign 0.06
R0479:Mug1 UTSW 6 121,817,186 (GRCm39) missense probably benign
R0535:Mug1 UTSW 6 121,828,413 (GRCm39) missense probably benign
R0745:Mug1 UTSW 6 121,864,386 (GRCm39) missense probably benign 0.35
R0939:Mug1 UTSW 6 121,861,308 (GRCm39) missense possibly damaging 0.95
R0975:Mug1 UTSW 6 121,855,498 (GRCm39) missense probably damaging 0.99
R1033:Mug1 UTSW 6 121,857,510 (GRCm39) missense probably damaging 0.99
R1086:Mug1 UTSW 6 121,862,813 (GRCm39) missense probably damaging 1.00
R1116:Mug1 UTSW 6 121,847,604 (GRCm39) missense probably benign
R1131:Mug1 UTSW 6 121,838,144 (GRCm39) missense probably benign 0.18
R1249:Mug1 UTSW 6 121,826,420 (GRCm39) missense probably benign 0.07
R1364:Mug1 UTSW 6 121,858,672 (GRCm39) missense probably damaging 1.00
R1418:Mug1 UTSW 6 121,815,635 (GRCm39) missense probably benign 0.00
R1462:Mug1 UTSW 6 121,859,588 (GRCm39) missense probably benign 0.41
R1462:Mug1 UTSW 6 121,859,588 (GRCm39) missense probably benign 0.41
R1494:Mug1 UTSW 6 121,856,259 (GRCm39) missense probably damaging 1.00
R1639:Mug1 UTSW 6 121,857,530 (GRCm39) missense probably damaging 1.00
R1901:Mug1 UTSW 6 121,858,780 (GRCm39) missense probably benign
R1902:Mug1 UTSW 6 121,858,780 (GRCm39) missense probably benign
R2087:Mug1 UTSW 6 121,833,250 (GRCm39) missense probably benign 0.00
R2168:Mug1 UTSW 6 121,847,458 (GRCm39) missense probably benign 0.08
R2249:Mug1 UTSW 6 121,847,469 (GRCm39) missense probably benign
R2341:Mug1 UTSW 6 121,861,588 (GRCm39) missense probably benign 0.06
R2888:Mug1 UTSW 6 121,858,802 (GRCm39) missense probably benign 0.44
R2892:Mug1 UTSW 6 121,817,029 (GRCm39) missense possibly damaging 0.91
R3703:Mug1 UTSW 6 121,865,515 (GRCm39) splice site probably benign
R3789:Mug1 UTSW 6 121,861,587 (GRCm39) missense probably benign 0.03
R3790:Mug1 UTSW 6 121,861,587 (GRCm39) missense probably benign 0.03
R3950:Mug1 UTSW 6 121,855,489 (GRCm39) missense probably damaging 1.00
R4261:Mug1 UTSW 6 121,850,693 (GRCm39) missense probably benign
R4402:Mug1 UTSW 6 121,856,311 (GRCm39) missense probably damaging 1.00
R4589:Mug1 UTSW 6 121,834,310 (GRCm39) missense probably benign 0.19
R4707:Mug1 UTSW 6 121,861,600 (GRCm39) missense probably damaging 1.00
R4766:Mug1 UTSW 6 121,861,213 (GRCm39) missense probably benign 0.01
R4840:Mug1 UTSW 6 121,862,813 (GRCm39) missense probably damaging 1.00
R4984:Mug1 UTSW 6 121,815,576 (GRCm39) utr 5 prime probably benign
R4999:Mug1 UTSW 6 121,855,902 (GRCm39) nonsense probably null
R5198:Mug1 UTSW 6 121,851,521 (GRCm39) missense probably damaging 1.00
R5220:Mug1 UTSW 6 121,838,092 (GRCm39) missense probably benign 0.03
R5253:Mug1 UTSW 6 121,865,872 (GRCm39) missense probably benign 0.03
R5273:Mug1 UTSW 6 121,850,748 (GRCm39) missense probably damaging 0.99
R5285:Mug1 UTSW 6 121,818,066 (GRCm39) missense probably benign 0.45
R5387:Mug1 UTSW 6 121,861,353 (GRCm39) missense probably damaging 0.99
R5560:Mug1 UTSW 6 121,838,032 (GRCm39) missense probably damaging 0.96
R5652:Mug1 UTSW 6 121,817,140 (GRCm39) missense probably benign
R5704:Mug1 UTSW 6 121,828,392 (GRCm39) missense possibly damaging 0.63
R5732:Mug1 UTSW 6 121,855,452 (GRCm39) missense probably benign 0.00
R6053:Mug1 UTSW 6 121,842,697 (GRCm39) missense probably benign 0.00
R6173:Mug1 UTSW 6 121,840,752 (GRCm39) missense probably damaging 0.99
R6578:Mug1 UTSW 6 121,864,411 (GRCm39) missense probably benign 0.00
R6647:Mug1 UTSW 6 121,817,200 (GRCm39) missense probably benign 0.02
R6681:Mug1 UTSW 6 121,815,683 (GRCm39) missense possibly damaging 0.75
R6925:Mug1 UTSW 6 121,858,746 (GRCm39) missense probably damaging 1.00
R7014:Mug1 UTSW 6 121,838,084 (GRCm39) missense probably benign 0.22
R7031:Mug1 UTSW 6 121,815,673 (GRCm39) missense probably benign 0.00
R7034:Mug1 UTSW 6 121,850,603 (GRCm39) missense probably benign 0.00
R7156:Mug1 UTSW 6 121,861,302 (GRCm39) missense probably damaging 1.00
R7156:Mug1 UTSW 6 121,857,864 (GRCm39) missense probably damaging 1.00
R7179:Mug1 UTSW 6 121,834,379 (GRCm39) missense probably benign 0.00
R7211:Mug1 UTSW 6 121,857,498 (GRCm39) missense possibly damaging 0.52
R7318:Mug1 UTSW 6 121,847,611 (GRCm39) critical splice donor site probably null
R7462:Mug1 UTSW 6 121,852,399 (GRCm39) missense probably benign 0.00
R7479:Mug1 UTSW 6 121,855,467 (GRCm39) missense possibly damaging 0.83
R7588:Mug1 UTSW 6 121,852,476 (GRCm39) missense probably damaging 1.00
R7611:Mug1 UTSW 6 121,852,387 (GRCm39) critical splice acceptor site probably null
R7659:Mug1 UTSW 6 121,838,179 (GRCm39) missense possibly damaging 0.95
R7660:Mug1 UTSW 6 121,838,179 (GRCm39) missense possibly damaging 0.95
R7661:Mug1 UTSW 6 121,838,179 (GRCm39) missense possibly damaging 0.95
R7663:Mug1 UTSW 6 121,838,179 (GRCm39) missense possibly damaging 0.95
R7664:Mug1 UTSW 6 121,838,179 (GRCm39) missense possibly damaging 0.95
R7666:Mug1 UTSW 6 121,838,179 (GRCm39) missense possibly damaging 0.95
R7788:Mug1 UTSW 6 121,838,179 (GRCm39) missense possibly damaging 0.95
R7789:Mug1 UTSW 6 121,838,179 (GRCm39) missense possibly damaging 0.95
R7794:Mug1 UTSW 6 121,833,247 (GRCm39) missense possibly damaging 0.93
R7809:Mug1 UTSW 6 121,855,944 (GRCm39) missense possibly damaging 0.79
R7836:Mug1 UTSW 6 121,847,611 (GRCm39) critical splice donor site probably null
R7867:Mug1 UTSW 6 121,850,593 (GRCm39) missense probably benign
R7904:Mug1 UTSW 6 121,828,424 (GRCm39) missense probably benign
R7937:Mug1 UTSW 6 121,838,128 (GRCm39) missense probably benign 0.00
R7981:Mug1 UTSW 6 121,858,723 (GRCm39) missense probably damaging 1.00
R7999:Mug1 UTSW 6 121,857,855 (GRCm39) missense possibly damaging 0.90
R8070:Mug1 UTSW 6 121,852,838 (GRCm39) missense probably benign 0.26
R8071:Mug1 UTSW 6 121,850,631 (GRCm39) missense probably benign
R8151:Mug1 UTSW 6 121,818,117 (GRCm39) missense probably benign 0.01
R8491:Mug1 UTSW 6 121,859,688 (GRCm39) missense probably damaging 1.00
R8714:Mug1 UTSW 6 121,859,681 (GRCm39) missense probably benign 0.01
R8734:Mug1 UTSW 6 121,848,340 (GRCm39) missense probably benign 0.00
R8738:Mug1 UTSW 6 121,817,208 (GRCm39) splice site probably benign
R8807:Mug1 UTSW 6 121,851,434 (GRCm39) missense probably benign 0.27
R8931:Mug1 UTSW 6 121,861,296 (GRCm39) missense probably benign
R8940:Mug1 UTSW 6 121,858,642 (GRCm39) missense
R9156:Mug1 UTSW 6 121,851,390 (GRCm39) missense probably damaging 0.99
R9314:Mug1 UTSW 6 121,834,296 (GRCm39) missense probably damaging 0.97
R9315:Mug1 UTSW 6 121,850,730 (GRCm39) missense possibly damaging 0.95
R9330:Mug1 UTSW 6 121,859,723 (GRCm39) missense probably benign 0.14
R9334:Mug1 UTSW 6 121,838,490 (GRCm39) missense probably benign 0.01
R9357:Mug1 UTSW 6 121,852,450 (GRCm39) missense probably benign 0.02
R9515:Mug1 UTSW 6 121,861,635 (GRCm39) missense probably damaging 1.00
R9549:Mug1 UTSW 6 121,858,762 (GRCm39) missense probably damaging 1.00
R9564:Mug1 UTSW 6 121,861,587 (GRCm39) missense probably benign 0.03
R9663:Mug1 UTSW 6 121,859,699 (GRCm39) missense probably benign 0.03
R9663:Mug1 UTSW 6 121,857,463 (GRCm39) missense probably benign 0.08
R9681:Mug1 UTSW 6 121,833,254 (GRCm39) missense probably benign 0.01
R9777:Mug1 UTSW 6 121,857,864 (GRCm39) missense probably damaging 1.00
RF017:Mug1 UTSW 6 121,861,533 (GRCm39) missense probably damaging 1.00
X0064:Mug1 UTSW 6 121,838,174 (GRCm39) missense possibly damaging 0.48
Z1176:Mug1 UTSW 6 121,857,452 (GRCm39) missense probably damaging 1.00
Z1176:Mug1 UTSW 6 121,818,253 (GRCm39) missense probably benign 0.32
Z1177:Mug1 UTSW 6 121,856,258 (GRCm39) critical splice acceptor site probably null
Z1177:Mug1 UTSW 6 121,840,767 (GRCm39) missense probably damaging 0.99
Z1177:Mug1 UTSW 6 121,863,527 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCAGCTCTGAGTGATTCTCATGTCC -3'
(R):5'- GCTTCTGGGGTTTGTACACATGCC -3'

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