Incidental Mutation 'R1462:Mug1'
ID 186304
Institutional Source Beutler Lab
Gene Symbol Mug1
Ensembl Gene ENSMUSG00000059908
Gene Name murinoglobulin 1
Synonyms
MMRRC Submission 039516-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1462 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 121815500-121866016 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121859588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 1196 (H1196Y)
Ref Sequence ENSEMBL: ENSMUSP00000032228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032228]
AlphaFold P28665
Predicted Effect probably benign
Transcript: ENSMUST00000032228
AA Change: H1196Y

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: H1196Y

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: ENSMUST00000204210
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,642,370 (GRCm39) S104* probably null Het
A430093F15Rik A T 19: 10,762,845 (GRCm39) probably benign Het
Abca13 T A 11: 9,433,924 (GRCm39) probably benign Het
Abca9 T C 11: 110,051,342 (GRCm39) D118G probably benign Het
Adamts16 A G 13: 70,984,253 (GRCm39) F137L probably benign Het
Adamts3 T C 5: 90,009,208 (GRCm39) I152V probably benign Het
Adcy4 T A 14: 56,015,765 (GRCm39) E441D possibly damaging Het
Adgra1 T A 7: 139,455,745 (GRCm39) Y458N probably damaging Het
Atpaf1 C T 4: 115,642,150 (GRCm39) probably benign Het
Bhlhe22 C G 3: 18,109,946 (GRCm39) S332C probably damaging Het
Card19 T A 13: 49,358,760 (GRCm39) Q71L probably benign Het
Ccdc12 T C 9: 110,485,662 (GRCm39) L11P probably damaging Het
Cdadc1 A G 14: 59,813,307 (GRCm39) Y367H probably damaging Het
Cdc5l G T 17: 45,719,288 (GRCm39) Q542K possibly damaging Het
Ceacam23 T G 7: 17,649,516 (GRCm39) noncoding transcript Het
Cep170 T C 1: 176,584,211 (GRCm39) K723E possibly damaging Het
Cep70 A G 9: 99,145,773 (GRCm39) I147V probably benign Het
Cfap58 A T 19: 47,950,869 (GRCm39) H410L probably damaging Het
Chat T C 14: 32,142,735 (GRCm39) K418R probably damaging Het
Cic T G 7: 24,971,032 (GRCm39) D254E probably damaging Het
Ckap4 T C 10: 84,363,431 (GRCm39) E544G probably damaging Het
Crnkl1 C T 2: 145,763,739 (GRCm39) A500T probably damaging Het
Cyp2c38 T C 19: 39,380,632 (GRCm39) N418D probably damaging Het
Daam1 A T 12: 71,990,916 (GRCm39) I177L unknown Het
Dnah1 T C 14: 30,990,738 (GRCm39) probably benign Het
Ercc5 A G 1: 44,219,784 (GRCm39) T1019A probably damaging Het
F13b T A 1: 139,435,374 (GRCm39) V173E probably damaging Het
Fam135b A G 15: 71,493,845 (GRCm39) probably benign Het
Fam20a A C 11: 109,568,143 (GRCm39) F316V probably damaging Het
Flrt2 T C 12: 95,746,112 (GRCm39) V150A probably damaging Het
Fnta A C 8: 26,489,599 (GRCm39) probably null Het
Ghsr A G 3: 27,426,025 (GRCm39) D27G probably benign Het
Glis3 G T 19: 28,239,918 (GRCm39) probably benign Het
Gtpbp1 A G 15: 79,592,086 (GRCm39) N96D probably damaging Het
H1f7 A T 15: 98,154,454 (GRCm39) W232R unknown Het
Hycc1 A G 5: 24,190,730 (GRCm39) probably benign Het
Ibtk A T 9: 85,606,198 (GRCm39) I443N probably damaging Het
Ifi207 T C 1: 173,552,513 (GRCm39) H968R probably damaging Het
Ifit2 A G 19: 34,550,586 (GRCm39) D42G probably null Het
Il17rc A T 6: 113,455,950 (GRCm39) D265V probably damaging Het
Ints10 G A 8: 69,260,296 (GRCm39) probably benign Het
Itfg2 T C 6: 128,401,691 (GRCm39) D29G probably damaging Het
Itprid1 A G 6: 55,952,649 (GRCm39) H864R probably damaging Het
Kcng3 A T 17: 83,938,492 (GRCm39) C186S probably damaging Het
Lrrc1 A G 9: 77,349,547 (GRCm39) F295L probably benign Het
Mrps28 T A 3: 8,965,184 (GRCm39) H85L possibly damaging Het
Mtpn T A 6: 35,499,693 (GRCm39) K37M possibly damaging Het
Mup4 T C 4: 59,960,084 (GRCm39) H60R possibly damaging Het
Musk A G 4: 58,286,204 (GRCm39) probably benign Het
Mybl2 T C 2: 162,914,628 (GRCm39) S249P probably benign Het
Naip6 A G 13: 100,436,748 (GRCm39) Y592H possibly damaging Het
Nrp1 A G 8: 129,229,279 (GRCm39) N919S probably benign Het
Nudt9 C T 5: 104,212,904 (GRCm39) Q326* probably null Het
Or5w13 A T 2: 87,523,720 (GRCm39) C169S probably damaging Het
Or6c76b A G 10: 129,693,100 (GRCm39) T238A probably damaging Het
Or7g17 T A 9: 18,768,407 (GRCm39) M162K probably benign Het
Or9k7 T A 10: 130,046,592 (GRCm39) I136F probably benign Het
Pcsk4 T C 10: 80,161,815 (GRCm39) E142G probably damaging Het
Pde3a C A 6: 141,405,560 (GRCm39) P471T probably benign Het
Pign A T 1: 105,512,727 (GRCm39) V652E possibly damaging Het
Prkcb T A 7: 122,181,672 (GRCm39) M420K probably damaging Het
Prr14 T A 7: 127,073,160 (GRCm39) probably null Het
Rchy1 T A 5: 92,105,741 (GRCm39) Q69L probably damaging Het
Sccpdh A C 1: 179,509,125 (GRCm39) probably benign Het
Sec23ip T G 7: 128,367,862 (GRCm39) S625A probably benign Het
Smpdl3b A G 4: 132,473,925 (GRCm39) S47P probably damaging Het
Speer4a3 T A 5: 26,156,623 (GRCm39) I119F possibly damaging Het
Stil G A 4: 114,881,161 (GRCm39) M568I probably benign Het
Syt3 T A 7: 44,045,434 (GRCm39) V558E probably damaging Het
Sytl3 A G 17: 6,973,430 (GRCm39) probably benign Het
Szt2 A G 4: 118,231,164 (GRCm39) V2533A unknown Het
Tenm4 A G 7: 96,353,360 (GRCm39) Y384C probably damaging Het
Tfam T C 10: 71,071,380 (GRCm39) E94G probably damaging Het
Tmbim7 A G 5: 3,714,304 (GRCm39) T14A probably damaging Het
Tmtc2 A T 10: 105,409,566 (GRCm39) Y15* probably null Het
Uhrf1 C T 17: 56,625,035 (GRCm39) A526V probably damaging Het
Vmn2r67 T C 7: 84,805,046 (GRCm39) D22G probably benign Het
Vmn2r96 A G 17: 18,817,660 (GRCm39) I412M possibly damaging Het
Vmn2r-ps69 T A 7: 84,959,560 (GRCm39) noncoding transcript Het
Wdr17 A T 8: 55,123,363 (GRCm39) I479K probably damaging Het
Wt1 T C 2: 104,997,176 (GRCm39) V371A probably damaging Het
Zfp536 G T 7: 37,178,735 (GRCm39) S226Y probably damaging Het
Zfp827 T C 8: 79,803,108 (GRCm39) V560A probably benign 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
R0519:Mug1 UTSW 6 121,828,383 (GRCm39) missense possibly damaging 0.83
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
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'- GCCATTGTCTCCTCAACTAGAGCAC -3'
(R):5'- GGGACTCTAATGGGAAACCACCAAC -3'

Sequencing Primer
(F):5'- TTAGCAAATCTGGGCATACTGG -3'
(R):5'- ACCACCAACCTGTGTGGAG -3'
Posted On 2014-05-09