Incidental Mutation 'R1623:Ubr3'
ID 174755
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 039660-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1623 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 69727590-69854357 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 69808067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 1183 (Q1183*)
Ref Sequence ENSEMBL: ENSMUSP00000107870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055758] [ENSMUST00000112251]
AlphaFold Q5U430
Predicted Effect probably null
Transcript: ENSMUST00000055758
AA Change: Q1184*
SMART Domains Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: Q1184*

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 null
Transcript: ENSMUST00000112251
AA Change: Q1183*
SMART Domains Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: Q1183*

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 94.9%
  • 20x: 87.6%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A T 2: 22,984,356 (GRCm39) D294V probably damaging Het
Actn2 A T 13: 12,355,320 (GRCm39) I21N probably benign Het
Adamts2 C A 11: 50,558,942 (GRCm39) P219H possibly damaging Het
Atg16l2 A G 7: 100,939,113 (GRCm39) F584L probably benign Het
Ccdc81 C T 7: 89,535,390 (GRCm39) R282Q probably benign Het
Ccn4 G T 15: 66,763,448 (GRCm39) V12L possibly damaging Het
Cd200r3 G A 16: 44,771,811 (GRCm39) C25Y possibly damaging Het
Cdkl4 C T 17: 80,863,731 (GRCm39) probably null Het
Chrne T C 11: 70,509,254 (GRCm39) E109G possibly damaging Het
Clmp A G 9: 40,693,856 (GRCm39) T358A probably benign Het
Cmtr1 G T 17: 29,906,021 (GRCm39) probably null Het
Col25a1 A G 3: 130,343,699 (GRCm39) E389G probably damaging Het
Ctc1 C T 11: 68,911,968 (GRCm39) T49M probably damaging Het
Cyth3 T A 5: 143,687,127 (GRCm39) M120K probably damaging Het
D430041D05Rik T A 2: 103,983,308 (GRCm39) E1996V probably damaging Het
Dnah9 T C 11: 65,928,463 (GRCm39) M2069V probably damaging Het
Dsg1c T C 18: 20,408,234 (GRCm39) Y428H probably damaging Het
Exosc8 T A 3: 54,641,752 (GRCm39) T7S probably damaging Het
F5 A G 1: 164,023,191 (GRCm39) Y1583C probably damaging Het
Fam178b A G 1: 36,683,405 (GRCm39) I105T probably damaging Het
Fam181a T A 12: 103,282,591 (GRCm39) Y165* probably null Het
Fbn2 G T 18: 58,181,620 (GRCm39) N1880K possibly damaging Het
Gbgt1 A T 2: 28,394,988 (GRCm39) M209L probably benign Het
Gkn2 C A 6: 87,355,152 (GRCm39) Y120* probably null Het
Gm14295 T A 2: 176,499,157 (GRCm39) D1E probably damaging Het
Gpr141 A T 13: 19,936,082 (GRCm39) probably null Het
Gramd2b C A 18: 56,565,423 (GRCm39) P26Q probably benign Het
Greb1 A G 12: 16,724,771 (GRCm39) I1801T probably damaging Het
Gstm3 T A 3: 107,875,151 (GRCm39) I64F possibly damaging Het
Gtse1 A G 15: 85,751,779 (GRCm39) Y324C probably benign Het
Hal C G 10: 93,352,159 (GRCm39) T650R probably benign Het
Hdac7 G A 15: 97,706,285 (GRCm39) Q293* probably null Het
Hdlbp A T 1: 93,351,591 (GRCm39) N437K probably damaging Het
Hif1an A G 19: 44,557,862 (GRCm39) D248G probably damaging Het
Hivep3 T C 4: 119,952,901 (GRCm39) S406P possibly damaging Het
Hmcn2 A T 2: 31,348,051 (GRCm39) D4899V possibly damaging Het
Ikzf3 C T 11: 98,381,157 (GRCm39) probably null Het
Inka2 G A 3: 105,624,136 (GRCm39) G151D probably damaging Het
Itgb4 C A 11: 115,882,142 (GRCm39) Y819* probably null Het
Itpripl1 T C 2: 126,983,555 (GRCm39) D189G possibly damaging Het
Kmt2e A G 5: 23,687,500 (GRCm39) Y450C probably damaging Het
Mc4r A G 18: 66,993,068 (GRCm39) L15P probably benign Het
Mical1 T G 10: 41,357,389 (GRCm39) probably null Het
Mical3 C T 6: 121,001,768 (GRCm39) V575M probably damaging Het
Mki67 A T 7: 135,310,547 (GRCm39) probably null Het
Mocs2 G A 13: 114,961,158 (GRCm39) E52K probably benign Het
Myo7b T C 18: 32,133,104 (GRCm39) N415S probably damaging Het
Notch1 G A 2: 26,368,624 (GRCm39) T555I possibly damaging Het
Notch3 T C 17: 32,358,165 (GRCm39) D1686G probably benign Het
Oit3 A G 10: 59,264,061 (GRCm39) F358L probably damaging Het
Or10x1 A C 1: 174,196,515 (GRCm39) I11L probably benign Het
Or6k4 A T 1: 173,964,883 (GRCm39) D191V probably damaging Het
Orai1 T A 5: 123,167,265 (GRCm39) I146N probably damaging Het
Pck1 A G 2: 172,996,511 (GRCm39) I142V probably benign Het
Pdap1 C T 5: 145,069,739 (GRCm39) V89M possibly damaging Het
Phf11a T C 14: 59,525,000 (GRCm39) D68G possibly damaging Het
Pilrb2 T C 5: 137,869,510 (GRCm39) N30S probably damaging Het
Pkd1 G A 17: 24,797,243 (GRCm39) V2551I probably damaging Het
Pnpla7 T C 2: 24,942,611 (GRCm39) V132A probably damaging Het
Prr35 G A 17: 26,166,508 (GRCm39) P343L probably benign Het
Rad18 C T 6: 112,605,480 (GRCm39) S398N probably damaging Het
Rdh16f1 C A 10: 127,626,722 (GRCm39) N258K probably benign Het
Riox2 A G 16: 59,303,405 (GRCm39) H240R probably damaging Het
Ruvbl1 C T 6: 88,462,752 (GRCm39) A292V probably damaging Het
Ryr1 C T 7: 28,794,915 (GRCm39) G1151S probably damaging Het
Serpinb9b T C 13: 33,213,548 (GRCm39) I35T possibly damaging Het
Slc1a1 T A 19: 28,882,122 (GRCm39) M328K probably benign Het
Slc7a13 A T 4: 19,824,031 (GRCm39) T267S possibly damaging Het
Speer3 G T 5: 13,846,335 (GRCm39) M218I probably benign Het
Sptan1 A G 2: 29,876,432 (GRCm39) I271V probably damaging Het
Swap70 A G 7: 109,863,255 (GRCm39) T195A probably benign Het
Tgs1 T A 4: 3,585,964 (GRCm39) N280K probably benign Het
Tonsl A G 15: 76,522,709 (GRCm39) C181R probably damaging Het
Trdn A G 10: 33,134,098 (GRCm39) K333R possibly damaging Het
Trpc4 T A 3: 54,206,600 (GRCm39) M600K probably damaging Het
Ubxn4 T A 1: 128,200,588 (GRCm39) L360I possibly damaging Het
Ugt2b1 T A 5: 87,074,267 (GRCm39) T31S probably benign Het
Uspl1 T C 5: 149,152,009 (GRCm39) S1056P probably damaging Het
Vmn2r60 A T 7: 41,785,279 (GRCm39) K164* probably null Het
Vwce T A 19: 10,624,108 (GRCm39) L333* probably null Het
Wdr95 T A 5: 149,497,581 (GRCm39) L253Q probably damaging Het
Zfp113 T C 5: 138,143,930 (GRCm39) M107V probably benign Het
Zfp142 T C 1: 74,610,934 (GRCm39) T851A possibly damaging 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
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
R5134:Ubr3 UTSW 2 69,850,790 (GRCm39) splice site probably benign
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'- ACACAGACAGTAGGTTTGAGGCCG -3'
(R):5'- CAACTGCTTGTGCTCAACAACAAAATG -3'

Sequencing Primer
(F):5'- CGTGTGGAAGAATAGAATCAGCTC -3'
(R):5'- gcctccaacccgataacc -3'
Posted On 2014-04-24