Incidental Mutation 'R5134:Ubr3'
ID 396006
Institutional Source Beutler Lab
Gene Symbol Ubr3
Ensembl Gene ENSMUSG00000044308
Gene Name ubiquitin protein ligase E3 component n-recognin 3
Synonyms 1110059H15Rik, 4833421P10Rik, A130030D10Rik, Zfp650
MMRRC Submission 042722-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5134 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 69727590-69854357 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 69850790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055758] [ENSMUST00000112251]
AlphaFold Q5U430
Predicted Effect probably benign
Transcript: ENSMUST00000055758
SMART Domains Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308

DomainStartEndE-ValueType
low complexity region 13 40 N/A INTRINSIC
low complexity region 67 88 N/A INTRINSIC
Pfam:zf-UBR 118 188 1.6e-19 PFAM
low complexity region 339 354 N/A INTRINSIC
low complexity region 570 580 N/A INTRINSIC
low complexity region 1016 1027 N/A INTRINSIC
low complexity region 1082 1101 N/A INTRINSIC
coiled coil region 1167 1199 N/A INTRINSIC
Blast:RING 1289 1363 8e-39 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112251
SMART Domains Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308

DomainStartEndE-ValueType
low complexity region 13 40 N/A INTRINSIC
low complexity region 67 88 N/A INTRINSIC
Pfam:zf-UBR 119 187 1.7e-21 PFAM
low complexity region 338 353 N/A INTRINSIC
low complexity region 569 579 N/A INTRINSIC
low complexity region 1015 1026 N/A INTRINSIC
low complexity region 1081 1100 N/A INTRINSIC
coiled coil region 1166 1198 N/A INTRINSIC
Blast:RING 1288 1362 8e-39 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150301
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 96% (100/104)
MGI Phenotype PHENOTYPE: Homozygous null mice obtained on a coisogenic 129S1 background die early in embryogenesis while those on a mixed 129S1/B6 background are born at a slightly reduced frequency. On a congenic C57BL/6 background, homozygotes display neonatal lethality, impaired suckling and female behavioral anosmia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T A 10: 77,161,679 (GRCm39) probably benign Het
Adrb3 A C 8: 27,717,798 (GRCm39) M217R probably damaging Het
Ank2 A T 3: 126,757,094 (GRCm39) N1054K possibly damaging Het
Aox4 A T 1: 58,275,835 (GRCm39) D389V probably benign Het
Aph1a G T 3: 95,802,843 (GRCm39) G148W probably damaging Het
Arsj A G 3: 126,231,803 (GRCm39) D183G probably benign Het
Atg2b A G 12: 105,641,209 (GRCm39) S76P probably damaging Het
Atxn7l1 C A 12: 33,422,875 (GRCm39) N815K probably damaging Het
Cd3d A T 9: 44,896,296 (GRCm39) E28D probably damaging Het
Cir1 G A 2: 73,114,847 (GRCm39) R404* probably null Het
Cops8 A G 1: 90,538,724 (GRCm39) D51G probably damaging Het
Csgalnact1 T C 8: 68,913,623 (GRCm39) E194G probably benign Het
Cstf2t T A 19: 31,061,494 (GRCm39) D343E probably damaging Het
Ddx23 A T 15: 98,548,651 (GRCm39) D352E possibly damaging Het
Dhx34 G T 7: 15,952,175 (GRCm39) A150D possibly damaging Het
Dnal4 A T 15: 79,647,766 (GRCm39) V32E possibly damaging Het
Dvl3 G T 16: 20,343,357 (GRCm39) probably benign Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Enpp2 C T 15: 54,762,726 (GRCm39) R174H probably damaging Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
F10 T C 8: 13,105,698 (GRCm39) V421A probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fer1l6 A T 15: 58,512,003 (GRCm39) D1490V probably damaging Het
Fsd1l A G 4: 53,647,766 (GRCm39) K70E probably benign Het
Galnt12 G A 4: 47,113,818 (GRCm39) A79T probably damaging Het
Galnt17 A T 5: 130,992,873 (GRCm39) M347K probably damaging Het
Glyatl3 A G 17: 41,215,921 (GRCm39) V195A probably benign Het
Gm10770 A T 2: 150,021,480 (GRCm39) probably null Het
Gm5578 A T 6: 112,583,046 (GRCm39) noncoding transcript Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Gsk3b G A 16: 38,060,882 (GRCm39) R418H probably damaging Het
Hspa12b A G 2: 130,981,428 (GRCm39) E221G possibly damaging Het
Ighv1-50 T G 12: 115,083,653 (GRCm39) Q22H probably benign Het
Ipcef1 A G 10: 6,869,950 (GRCm39) I150T probably benign Het
Ipp T A 4: 116,372,654 (GRCm39) F228I possibly damaging Het
Itgb7 A G 15: 102,125,842 (GRCm39) C596R probably damaging Het
Kif27 T C 13: 58,438,904 (GRCm39) D1219G possibly damaging Het
Lats1 T A 10: 7,567,575 (GRCm39) D115E probably benign Het
Lpcat3 A G 6: 124,679,493 (GRCm39) N331S probably benign Het
Lrpprc A T 17: 85,058,684 (GRCm39) N725K probably benign Het
Lss T G 10: 76,382,070 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,747,515 (GRCm39) Y450C possibly damaging Het
Mmp21 A T 7: 133,280,742 (GRCm39) V76E probably benign Het
Mtmr11 A T 3: 96,077,223 (GRCm39) Y527F probably damaging Het
Nat10 A T 2: 103,573,638 (GRCm39) F327I probably benign Het
Nfkbiz A T 16: 55,638,863 (GRCm39) M199K probably damaging Het
Nuak1 A G 10: 84,210,214 (GRCm39) Y625H probably benign Het
Odf1 A G 15: 38,226,393 (GRCm39) T98A possibly damaging Het
Oprl1 T A 2: 181,360,403 (GRCm39) I153N probably damaging Het
Or10g3b T C 14: 52,587,248 (GRCm39) N85S probably benign Het
Or1j4 A T 2: 36,740,488 (GRCm39) L143F probably benign Het
Or4x13 T A 2: 90,231,107 (GRCm39) M34K probably benign Het
Osbpl8 T A 10: 111,124,554 (GRCm39) D705E probably benign Het
Otud4 G A 8: 80,382,318 (GRCm39) V176I probably damaging Het
Paics T C 5: 77,104,669 (GRCm39) probably benign Het
Pax5 A G 4: 44,710,407 (GRCm39) M1T probably null Het
Pck1 A T 2: 172,995,282 (GRCm39) N34I probably benign Het
Pde8b T C 13: 95,223,250 (GRCm39) I335V probably benign Het
Piezo2 A G 18: 63,207,691 (GRCm39) V1440A probably damaging Het
Prr23a4 T C 9: 98,785,793 (GRCm39) S153P probably benign Het
Ptpre T A 7: 135,253,821 (GRCm39) F83Y probably damaging Het
Pwwp3a T C 10: 80,068,702 (GRCm39) L282P probably benign Het
Rassf6 T A 5: 90,752,225 (GRCm39) probably null Het
Rilp A T 11: 75,403,534 (GRCm39) L325F probably damaging Het
Rpf1 A G 3: 146,212,293 (GRCm39) L349S probably damaging Het
Rprd2 G C 3: 95,672,632 (GRCm39) R924G probably benign Het
Rps6kc1 T A 1: 190,505,845 (GRCm39) D1039V probably damaging Het
Rufy3 G A 5: 88,793,426 (GRCm39) V579I probably benign Het
Serpinc1 A G 1: 160,825,140 (GRCm39) probably null Het
Siae T G 9: 37,557,816 (GRCm39) I541S possibly damaging Het
St14 T G 9: 31,006,879 (GRCm39) D649A probably benign Het
Stab2 A G 10: 86,707,674 (GRCm39) probably null Het
Sun3 T C 11: 8,988,287 (GRCm39) T12A probably benign Het
Tdrd6 A G 17: 43,937,101 (GRCm39) Y1316H probably damaging Het
Thbs3 CAGAAG CAG 3: 89,130,409 (GRCm39) probably benign Het
Tmem161b C A 13: 84,442,887 (GRCm39) T269K possibly damaging Het
Trav14-3 T A 14: 54,000,701 (GRCm39) S17T unknown Het
Trmu T A 15: 85,780,556 (GRCm39) probably null Het
Ttn T A 2: 76,537,586 (GRCm39) T26454S possibly damaging Het
Unc5b A T 10: 60,610,879 (GRCm39) V376E probably benign Het
Usp3 T C 9: 66,449,814 (GRCm39) S166G possibly damaging Het
Vldlr C A 19: 27,216,212 (GRCm39) C344* probably null Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Wdfy3 A C 5: 102,091,969 (GRCm39) Y457D probably damaging Het
Zbtb2 T C 10: 4,319,267 (GRCm39) Y253C possibly damaging Het
Zfp687 A C 3: 94,917,697 (GRCm39) F692V probably damaging Het
Zfp758 A G 17: 22,594,386 (GRCm39) K291E probably damaging Het
Zfp799 A T 17: 33,039,415 (GRCm39) C284S probably damaging Het
Zp1 C A 19: 10,897,926 (GRCm39) C5F probably benign Het
Other mutations in Ubr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Ubr3 APN 2 69,819,154 (GRCm39) missense probably benign 0.40
IGL00985:Ubr3 APN 2 69,833,775 (GRCm39) missense probably damaging 1.00
IGL01061:Ubr3 APN 2 69,813,569 (GRCm39) missense probably benign 0.05
IGL01325:Ubr3 APN 2 69,747,441 (GRCm39) missense possibly damaging 0.71
IGL01398:Ubr3 APN 2 69,789,997 (GRCm39) missense probably damaging 1.00
IGL01484:Ubr3 APN 2 69,851,888 (GRCm39) nonsense probably null
IGL01599:Ubr3 APN 2 69,768,522 (GRCm39) missense probably damaging 1.00
IGL01616:Ubr3 APN 2 69,850,828 (GRCm39) missense probably benign 0.14
IGL01634:Ubr3 APN 2 69,803,916 (GRCm39) missense probably benign
IGL01684:Ubr3 APN 2 69,846,502 (GRCm39) nonsense probably null
IGL01810:Ubr3 APN 2 69,833,809 (GRCm39) splice site probably null
IGL01813:Ubr3 APN 2 69,781,914 (GRCm39) missense probably benign 0.34
IGL01994:Ubr3 APN 2 69,851,520 (GRCm39) missense probably damaging 1.00
IGL02188:Ubr3 APN 2 69,789,955 (GRCm39) nonsense probably null
IGL02318:Ubr3 APN 2 69,809,741 (GRCm39) missense probably damaging 1.00
IGL02379:Ubr3 APN 2 69,778,832 (GRCm39) missense possibly damaging 0.91
IGL02635:Ubr3 APN 2 69,850,827 (GRCm39) missense probably damaging 0.96
IGL02858:Ubr3 APN 2 69,783,203 (GRCm39) missense probably damaging 1.00
IGL03140:Ubr3 APN 2 69,800,533 (GRCm39) missense probably damaging 1.00
IGL03343:Ubr3 APN 2 69,803,490 (GRCm39) splice site probably benign
Hyrax UTSW 2 69,783,212 (GRCm39) missense probably benign 0.32
manatee UTSW 2 69,809,730 (GRCm39) nonsense probably null
sea_cow UTSW 2 69,790,013 (GRCm39) splice site probably null
R0094:Ubr3 UTSW 2 69,781,706 (GRCm39) missense probably damaging 1.00
R0094:Ubr3 UTSW 2 69,781,706 (GRCm39) missense probably damaging 1.00
R0122:Ubr3 UTSW 2 69,809,756 (GRCm39) missense probably damaging 1.00
R0243:Ubr3 UTSW 2 69,781,749 (GRCm39) missense probably damaging 1.00
R0710:Ubr3 UTSW 2 69,783,181 (GRCm39) missense probably damaging 1.00
R0787:Ubr3 UTSW 2 69,781,765 (GRCm39) splice site probably benign
R1137:Ubr3 UTSW 2 69,768,659 (GRCm39) splice site probably benign
R1191:Ubr3 UTSW 2 69,851,525 (GRCm39) nonsense probably null
R1416:Ubr3 UTSW 2 69,775,415 (GRCm39) missense probably damaging 1.00
R1623:Ubr3 UTSW 2 69,808,067 (GRCm39) nonsense probably null
R1735:Ubr3 UTSW 2 69,839,473 (GRCm39) missense probably damaging 1.00
R1789:Ubr3 UTSW 2 69,846,711 (GRCm39) missense possibly damaging 0.87
R1793:Ubr3 UTSW 2 69,830,895 (GRCm39) splice site probably benign
R1932:Ubr3 UTSW 2 69,783,820 (GRCm39) splice site probably null
R2042:Ubr3 UTSW 2 69,808,118 (GRCm39) nonsense probably null
R2085:Ubr3 UTSW 2 69,784,108 (GRCm39) missense probably damaging 1.00
R2090:Ubr3 UTSW 2 69,766,361 (GRCm39) missense probably damaging 1.00
R2112:Ubr3 UTSW 2 69,808,136 (GRCm39) missense possibly damaging 0.73
R2173:Ubr3 UTSW 2 69,727,743 (GRCm39) missense probably benign
R2215:Ubr3 UTSW 2 69,809,661 (GRCm39) critical splice acceptor site probably null
R2273:Ubr3 UTSW 2 69,846,685 (GRCm39) missense probably benign 0.11
R2274:Ubr3 UTSW 2 69,846,685 (GRCm39) missense probably benign 0.11
R2275:Ubr3 UTSW 2 69,846,685 (GRCm39) missense probably benign 0.11
R2292:Ubr3 UTSW 2 69,727,604 (GRCm39) unclassified probably benign
R2447:Ubr3 UTSW 2 69,833,724 (GRCm39) missense probably damaging 1.00
R2504:Ubr3 UTSW 2 69,768,542 (GRCm39) missense probably damaging 0.99
R2517:Ubr3 UTSW 2 69,766,362 (GRCm39) missense probably damaging 1.00
R2901:Ubr3 UTSW 2 69,846,536 (GRCm39) missense possibly damaging 0.89
R3109:Ubr3 UTSW 2 69,819,184 (GRCm39) missense probably damaging 1.00
R3737:Ubr3 UTSW 2 69,801,578 (GRCm39) critical splice donor site probably null
R3793:Ubr3 UTSW 2 69,747,525 (GRCm39) missense possibly damaging 0.95
R3821:Ubr3 UTSW 2 69,824,157 (GRCm39) critical splice donor site probably null
R3918:Ubr3 UTSW 2 69,846,474 (GRCm39) critical splice acceptor site probably null
R4157:Ubr3 UTSW 2 69,790,013 (GRCm39) splice site probably null
R4235:Ubr3 UTSW 2 69,846,729 (GRCm39) nonsense probably null
R4276:Ubr3 UTSW 2 69,768,731 (GRCm39) nonsense probably null
R4544:Ubr3 UTSW 2 69,786,437 (GRCm39) missense probably benign 0.18
R4678:Ubr3 UTSW 2 69,766,263 (GRCm39) missense probably damaging 1.00
R4707:Ubr3 UTSW 2 69,768,714 (GRCm39) intron probably benign
R4785:Ubr3 UTSW 2 69,789,947 (GRCm39) missense probably damaging 1.00
R4872:Ubr3 UTSW 2 69,800,527 (GRCm39) missense probably damaging 1.00
R4887:Ubr3 UTSW 2 69,843,475 (GRCm39) missense probably damaging 0.99
R4920:Ubr3 UTSW 2 69,783,212 (GRCm39) missense probably benign 0.32
R4989:Ubr3 UTSW 2 69,850,790 (GRCm39) splice site probably benign
R5104:Ubr3 UTSW 2 69,768,600 (GRCm39) missense probably damaging 0.98
R5137:Ubr3 UTSW 2 69,803,679 (GRCm39) missense probably damaging 1.00
R5174:Ubr3 UTSW 2 69,839,506 (GRCm39) missense probably damaging 1.00
R5195:Ubr3 UTSW 2 69,786,378 (GRCm39) missense probably benign 0.00
R5437:Ubr3 UTSW 2 69,774,734 (GRCm39) missense probably damaging 1.00
R5539:Ubr3 UTSW 2 69,850,877 (GRCm39) missense probably damaging 1.00
R5781:Ubr3 UTSW 2 69,846,588 (GRCm39) splice site probably null
R5809:Ubr3 UTSW 2 69,795,855 (GRCm39) missense possibly damaging 0.90
R5913:Ubr3 UTSW 2 69,851,559 (GRCm39) missense probably damaging 1.00
R5969:Ubr3 UTSW 2 69,809,730 (GRCm39) nonsense probably null
R6136:Ubr3 UTSW 2 69,824,107 (GRCm39) missense probably benign 0.26
R6140:Ubr3 UTSW 2 69,803,673 (GRCm39) missense probably benign 0.09
R6185:Ubr3 UTSW 2 69,768,621 (GRCm39) missense probably damaging 0.98
R6220:Ubr3 UTSW 2 69,850,819 (GRCm39) missense probably damaging 1.00
R6258:Ubr3 UTSW 2 69,813,208 (GRCm39) splice site probably null
R6319:Ubr3 UTSW 2 69,803,758 (GRCm39) missense probably benign 0.00
R6322:Ubr3 UTSW 2 69,786,429 (GRCm39) nonsense probably null
R6470:Ubr3 UTSW 2 69,795,804 (GRCm39) missense probably benign 0.02
R6477:Ubr3 UTSW 2 69,809,773 (GRCm39) nonsense probably null
R6702:Ubr3 UTSW 2 69,786,393 (GRCm39) missense probably benign 0.23
R6709:Ubr3 UTSW 2 69,843,436 (GRCm39) missense probably damaging 1.00
R6803:Ubr3 UTSW 2 69,766,368 (GRCm39) critical splice donor site probably null
R6806:Ubr3 UTSW 2 69,786,308 (GRCm39) splice site probably benign
R6834:Ubr3 UTSW 2 69,830,825 (GRCm39) missense possibly damaging 0.63
R6841:Ubr3 UTSW 2 69,850,969 (GRCm39) missense probably damaging 1.00
R6847:Ubr3 UTSW 2 69,813,472 (GRCm39) missense probably damaging 1.00
R6889:Ubr3 UTSW 2 69,774,644 (GRCm39) missense possibly damaging 0.70
R7065:Ubr3 UTSW 2 69,784,049 (GRCm39) missense probably damaging 1.00
R7102:Ubr3 UTSW 2 69,728,166 (GRCm39) missense probably damaging 1.00
R7156:Ubr3 UTSW 2 69,851,967 (GRCm39) missense probably damaging 1.00
R7209:Ubr3 UTSW 2 69,846,478 (GRCm39) missense probably benign 0.01
R7273:Ubr3 UTSW 2 69,809,677 (GRCm39) missense probably damaging 0.97
R7314:Ubr3 UTSW 2 69,821,944 (GRCm39) missense probably damaging 1.00
R7422:Ubr3 UTSW 2 69,783,886 (GRCm39) critical splice donor site probably null
R7584:Ubr3 UTSW 2 69,821,847 (GRCm39) missense probably damaging 1.00
R7588:Ubr3 UTSW 2 69,801,513 (GRCm39) missense probably damaging 1.00
R7597:Ubr3 UTSW 2 69,803,812 (GRCm39) missense possibly damaging 0.69
R7697:Ubr3 UTSW 2 69,728,030 (GRCm39) missense probably damaging 1.00
R7737:Ubr3 UTSW 2 69,821,910 (GRCm39) missense probably benign 0.07
R7743:Ubr3 UTSW 2 69,774,793 (GRCm39) missense probably benign 0.28
R7946:Ubr3 UTSW 2 69,781,739 (GRCm39) missense possibly damaging 0.95
R7991:Ubr3 UTSW 2 69,783,200 (GRCm39) missense probably damaging 1.00
R8071:Ubr3 UTSW 2 69,819,220 (GRCm39) missense probably damaging 0.99
R8136:Ubr3 UTSW 2 69,851,523 (GRCm39) missense probably damaging 1.00
R8296:Ubr3 UTSW 2 69,784,706 (GRCm39) missense probably null 1.00
R8313:Ubr3 UTSW 2 69,775,478 (GRCm39) missense probably damaging 0.99
R8675:Ubr3 UTSW 2 69,850,865 (GRCm39) missense probably damaging 1.00
R8834:Ubr3 UTSW 2 69,833,785 (GRCm39) missense probably benign
R8975:Ubr3 UTSW 2 69,752,651 (GRCm39) missense probably damaging 1.00
R9060:Ubr3 UTSW 2 69,839,489 (GRCm39) nonsense probably null
R9153:Ubr3 UTSW 2 69,795,822 (GRCm39) missense
R9234:Ubr3 UTSW 2 69,727,990 (GRCm39) missense probably benign
R9293:Ubr3 UTSW 2 69,727,769 (GRCm39) missense probably benign 0.02
R9312:Ubr3 UTSW 2 69,784,677 (GRCm39) missense probably damaging 1.00
R9710:Ubr3 UTSW 2 69,727,957 (GRCm39) missense possibly damaging 0.94
R9762:Ubr3 UTSW 2 69,839,497 (GRCm39) missense probably benign 0.00
Z1088:Ubr3 UTSW 2 69,752,711 (GRCm39) missense probably benign 0.00
Z1177:Ubr3 UTSW 2 69,803,550 (GRCm39) missense probably damaging 1.00
Z1177:Ubr3 UTSW 2 69,728,010 (GRCm39) missense probably damaging 1.00
Z1177:Ubr3 UTSW 2 69,727,805 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- CCCGGTGTCAAGAATGCTTAATTAAC -3'
(R):5'- TTGCAGCACAGGCCTTTCAG -3'

Sequencing Primer
(F):5'- TTTTCATGCATGTTCAGAGGTAC -3'
(R):5'- TAGGAACCTTGGTGCAGA -3'
Posted On 2016-06-21