Incidental Mutation 'R0975:Mug1'
ID 81066
Institutional Source Beutler Lab
Gene Symbol Mug1
Ensembl Gene ENSMUSG00000059908
Gene Name murinoglobulin 1
Synonyms
MMRRC Submission 039104-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0975 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 121815500-121866016 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121855498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 944 (D944V)
Ref Sequence ENSEMBL: ENSMUSP00000032228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032228]
AlphaFold P28665
Predicted Effect probably damaging
Transcript: ENSMUST00000032228
AA Change: D944V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: D944V

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A G 8: 44,078,155 (GRCm39) F690L probably benign Het
Ampd2 T C 3: 107,984,437 (GRCm39) Y464C probably damaging Het
Arap2 A T 5: 62,888,229 (GRCm39) probably benign Het
Arhgap5 T G 12: 52,563,927 (GRCm39) N299K possibly damaging Het
Atl3 G A 19: 7,498,500 (GRCm39) W210* probably null Het
Bag1 T C 4: 40,937,152 (GRCm39) N320D probably benign Het
Ccdc39 T C 3: 33,898,274 (GRCm39) N24D probably damaging Het
Ccdc88b G A 19: 6,823,993 (GRCm39) P1420L probably damaging Het
Cdr2 G A 7: 120,557,614 (GRCm39) P304S probably benign Het
Col20a1 A T 2: 180,648,619 (GRCm39) I969F possibly damaging Het
Coro1c C G 5: 114,020,182 (GRCm39) R11P probably damaging Het
Cracd T C 5: 77,004,165 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cyp2c67 T G 19: 39,597,622 (GRCm39) K459Q possibly damaging Het
Cyp2c68 T C 19: 39,691,802 (GRCm39) T374A possibly damaging Het
Efcab6 T A 15: 83,857,532 (GRCm39) N289I probably benign Het
Elmo1 T A 13: 20,435,307 (GRCm39) I126N probably damaging Het
Esr2 C T 12: 76,192,082 (GRCm39) M315I possibly damaging Het
Fbxw14 T A 9: 109,100,307 (GRCm39) N449I probably benign Het
Frmpd1 C T 4: 45,279,000 (GRCm39) T575I probably benign Het
Gm14403 T G 2: 177,201,217 (GRCm39) N145K probably damaging Het
Gnl2 A G 4: 124,942,171 (GRCm39) D392G probably damaging Het
Hmcn1 A C 1: 150,453,128 (GRCm39) S5396A probably benign Het
Hoxd12 G T 2: 74,506,278 (GRCm39) R230L probably damaging Het
Khsrp T A 17: 57,334,066 (GRCm39) D154V possibly damaging Het
Klhl28 C T 12: 64,998,462 (GRCm39) R344H possibly damaging Het
Klhl3 C T 13: 58,161,677 (GRCm39) V473M possibly damaging Het
Larp1b A G 3: 40,924,925 (GRCm39) E134G probably damaging Het
Mcm9 G A 10: 53,414,742 (GRCm39) Q113* probably null Het
Myh6 A G 14: 55,190,826 (GRCm39) S950P probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Or1n1b C A 2: 36,780,562 (GRCm39) M99I possibly damaging Het
Or5k14 T A 16: 58,693,513 (GRCm39) probably null Het
Plcb4 T C 2: 135,829,832 (GRCm39) probably benign Het
Pomt1 T A 2: 32,143,907 (GRCm39) probably null Het
Prpf8 T C 11: 75,399,500 (GRCm39) probably benign Het
Rad9b C T 5: 122,472,320 (GRCm39) probably null Het
Recql5 A C 11: 115,814,082 (GRCm39) D240E probably damaging Het
Sec31a A C 5: 100,543,763 (GRCm39) probably null Het
Slc5a4b A G 10: 75,917,241 (GRCm39) V265A probably benign Het
Snx29 A T 16: 11,165,735 (GRCm39) D7V possibly damaging Het
Stk31 C G 6: 49,400,343 (GRCm39) D389E probably damaging Het
Tmeff2 T C 1: 50,977,364 (GRCm39) probably benign Het
Tmem131 C T 1: 36,893,966 (GRCm39) A146T probably damaging Het
Tmem63c T A 12: 87,121,843 (GRCm39) probably benign Het
Tonsl T A 15: 76,523,132 (GRCm39) D119V probably damaging Het
Trmt10a G A 3: 137,862,570 (GRCm39) E287K probably benign Het
Vmn1r192 T A 13: 22,371,633 (GRCm39) M196L probably damaging Het
Vmn2r9 T G 5: 108,991,169 (GRCm39) T731P probably damaging Het
Wfdc6b G A 2: 164,455,705 (GRCm39) M11I probably damaging Het
Ypel1 T A 16: 16,925,077 (GRCm39) T32S probably benign Het
Zfp827 A G 8: 79,787,814 (GRCm39) T327A 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
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'- TGCTCCAAGGCAATGGGTGATAAG -3'
(R):5'- ATGTTCTGCTCCCCACAGCCATAG -3'

Sequencing Primer
(F):5'- CTTGGAGCTTGACAAACCTG -3'
(R):5'- gggggagggtataggtgac -3'
Posted On 2013-11-07