Incidental Mutation 'R3821:Ubr3'
ID 274895
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 040883-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3821 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 69727590-69854357 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 69824157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055758] [ENSMUST00000112251] [ENSMUST00000152610]
AlphaFold Q5U430
Predicted Effect probably null
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 null
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: ENSMUST00000126165
Predicted Effect probably null
Transcript: ENSMUST00000152610
SMART Domains Protein: ENSMUSP00000122027
Gene: ENSMUSG00000044308

DomainStartEndE-ValueType
Blast:RING 1 57 1e-34 BLAST
SCOP:d1jm7a_ 20 84 4e-3 SMART
Meta Mutation Damage Score 0.9589 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,301,971 (GRCm39) I332F probably damaging Het
Abcd2 C T 15: 91,058,908 (GRCm39) G512D probably damaging Het
Acp3 G T 9: 104,201,916 (GRCm39) Q76K probably damaging Het
Adamtsl3 G T 7: 82,255,687 (GRCm39) probably benign Het
Alox8 T A 11: 69,077,308 (GRCm39) I481F probably damaging Het
Anp32e A T 3: 95,842,181 (GRCm39) I100L probably benign Het
Arpin G A 7: 79,579,408 (GRCm39) R72C probably damaging Het
C6 A G 15: 4,819,066 (GRCm39) E466G probably benign Het
Ccdc13 C A 9: 121,660,085 (GRCm39) L76F probably damaging Het
Cd44 T C 2: 102,731,738 (GRCm39) probably null Het
Clgn A G 8: 84,147,106 (GRCm39) I353V probably null Het
Cnot6 A T 11: 49,579,999 (GRCm39) S98T probably benign Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cramp1 G A 17: 25,193,756 (GRCm39) T908I probably damaging Het
Dnah9 C A 11: 65,741,829 (GRCm39) probably null Het
Ehd3 A T 17: 74,134,390 (GRCm39) I250F probably benign Het
Eml2 T C 7: 18,936,911 (GRCm39) V555A possibly damaging Het
Erbb4 A G 1: 68,345,072 (GRCm39) S550P probably damaging Het
Fchsd1 A G 18: 38,102,510 (GRCm39) probably benign Het
Flad1 T A 3: 89,318,494 (GRCm39) I20F probably damaging Het
Frem2 A T 3: 53,559,836 (GRCm39) L1557Q probably damaging Het
Gbf1 T C 19: 46,253,246 (GRCm39) I506T probably damaging Het
Gm20730 C T 6: 43,058,656 (GRCm39) S52N probably benign Het
Hoxc9 A G 15: 102,890,596 (GRCm39) K171R probably benign Het
Hscb A T 5: 110,984,194 (GRCm39) D52E probably damaging Het
Htr1b A T 9: 81,514,487 (GRCm39) I40N probably benign Het
Ido2 T C 8: 25,023,771 (GRCm39) I356V probably benign Het
Insyn2b T C 11: 34,353,007 (GRCm39) S350P probably benign Het
Irs1 T C 1: 82,267,770 (GRCm39) T149A probably benign Het
Itgam A G 7: 127,711,458 (GRCm39) probably null Het
Itpr2 A T 6: 146,319,224 (GRCm39) H244Q probably damaging Het
Kcnma1 A G 14: 23,417,679 (GRCm39) I846T probably damaging Het
Kdm3a A T 6: 71,588,661 (GRCm39) D449E probably benign Het
Lama1 C A 17: 68,086,041 (GRCm39) probably null Het
Lhfpl4 A G 6: 113,171,069 (GRCm39) V39A probably benign Het
Marf1 A T 16: 13,960,418 (GRCm39) L542Q probably damaging Het
Mns1 A G 9: 72,346,730 (GRCm39) E71G probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrpl19 C A 6: 81,938,987 (GRCm39) E272* probably null Het
Ncoa6 T A 2: 155,248,858 (GRCm39) N1482I probably damaging Het
Neto2 C A 8: 86,389,924 (GRCm39) E180* probably null Het
Or2a51 A G 6: 43,178,604 (GRCm39) T9A probably benign Het
Pcdhga10 A G 18: 37,880,995 (GRCm39) N252S probably damaging Het
Pcdhgb7 C A 18: 37,885,286 (GRCm39) T152K possibly damaging Het
Ptprb G T 10: 116,185,979 (GRCm39) R1678L probably benign Het
Ptprg A T 14: 12,226,375 (GRCm38) I1323L probably benign Het
Rab40b T A 11: 121,248,874 (GRCm39) N127I probably damaging Het
Scn10a A G 9: 119,467,699 (GRCm39) C814R probably benign Het
Sdhb C T 4: 140,706,399 (GRCm39) R279* probably null Het
Shroom4 C T X: 6,536,276 (GRCm39) Q1165* probably null Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Slc20a2 A G 8: 23,028,918 (GRCm39) I130V probably benign Het
Slitrk3 T C 3: 72,956,549 (GRCm39) Y741C possibly damaging Het
Tas1r1 G T 4: 152,119,138 (GRCm39) L144I probably benign Het
Tenm2 A T 11: 35,915,147 (GRCm39) I2129N probably damaging Het
Tmbim1 A G 1: 74,333,089 (GRCm39) V92A probably damaging Het
Tmem131 T A 1: 36,847,477 (GRCm39) H1207L probably damaging Het
Tmem209 G T 6: 30,505,959 (GRCm39) P116T probably damaging Het
Tmem8b C A 4: 43,689,745 (GRCm39) H800N probably damaging Het
Tnfsf8 A G 4: 63,779,127 (GRCm39) V57A probably benign Het
Topaz1 A G 9: 122,626,848 (GRCm39) D1492G possibly damaging Het
Trank1 G A 9: 111,207,887 (GRCm39) G1711R probably damaging Het
Trpc6 A T 9: 8,610,279 (GRCm39) D249V probably damaging Het
Ufc1 A G 1: 171,117,172 (GRCm39) probably benign Het
Unc5cl T C 17: 48,767,001 (GRCm39) L125P possibly damaging Het
Usb1 G A 8: 96,060,061 (GRCm39) S57N probably benign Het
Wdfy1 A G 1: 79,684,017 (GRCm39) S373P probably benign Het
Zfp618 G A 4: 63,051,801 (GRCm39) A861T probably benign Het
Zfp831 T C 2: 174,485,816 (GRCm39) S164P 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
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
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'- TTGCCATCCAGAACTTGAGTAAG -3'
(R):5'- CAGCCGAATTGTTCAGCAAG -3'

Sequencing Primer
(F):5'- CCAGAACTTGAGTAAGATAGATTCAG -3'
(R):5'- CTGGGAGGCTGTAAAACT -3'
Posted On 2015-04-02