Incidental Mutation 'R9762:Ubr3'
ID 733041
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9762 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 69727590-69854357 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69839497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1537 (V1537A)
Ref Sequence ENSEMBL: ENSMUSP00000060159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055758] [ENSMUST00000112251] [ENSMUST00000152610]
AlphaFold Q5U430
Predicted Effect probably benign
Transcript: ENSMUST00000055758
AA Change: V1537A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: V1537A

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
AA Change: V1540A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: V1540A

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 probably benign
Transcript: ENSMUST00000152610
AA Change: V231A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000122027
Gene: ENSMUSG00000044308
AA Change: V231A

DomainStartEndE-ValueType
Blast:RING 1 57 1e-34 BLAST
SCOP:d1jm7a_ 20 84 4e-3 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.6%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G T 19: 57,025,691 (GRCm39) R851S probably damaging Het
Acap2 C A 16: 30,929,763 (GRCm39) A407S probably damaging Het
Adam26a A T 8: 44,021,635 (GRCm39) S618R probably benign Het
Adamtsl5 T C 10: 80,180,896 (GRCm39) Y89C probably damaging Het
Aebp2 T A 6: 140,588,021 (GRCm39) S364T probably damaging Het
Ankfy1 A G 11: 72,621,401 (GRCm39) E229G probably benign Het
Arhgap27 G T 11: 103,251,511 (GRCm39) D72E probably benign Het
Arhgap33 T C 7: 30,230,950 (GRCm39) E191G probably null Het
Atp6v0a1 C T 11: 100,946,427 (GRCm39) H807Y possibly damaging Het
Ccdc113 A C 8: 96,272,605 (GRCm39) E237D probably benign Het
Cd200r2 T A 16: 44,729,420 (GRCm39) I25K probably benign Het
Cd300c2 A G 11: 114,887,775 (GRCm39) V209A probably damaging Het
Cdkn2d T A 9: 21,200,383 (GRCm39) E129D probably benign Het
Cfap251 A G 5: 123,460,533 (GRCm39) Y1165C probably damaging Het
Chd9 A T 8: 91,712,741 (GRCm39) N855Y unknown Het
Cntn3 A G 6: 102,254,196 (GRCm39) C249R probably damaging Het
Col12a1 T C 9: 79,527,266 (GRCm39) E2688G possibly damaging Het
Copb2 C T 9: 98,464,901 (GRCm39) T612I probably benign Het
Cplx1 A T 5: 108,673,378 (GRCm39) D29E possibly damaging Het
Cracd A G 5: 77,006,555 (GRCm39) K972R unknown Het
Cstf3 A T 2: 104,494,684 (GRCm39) R645* probably null Het
Ctdp1 A T 18: 80,492,550 (GRCm39) Y648* probably null Het
Daam1 T A 12: 71,990,855 (GRCm39) D156E unknown Het
Dbn1 G A 13: 55,622,824 (GRCm39) P599L probably damaging Het
Diaph1 C A 18: 37,987,589 (GRCm39) V1056F probably damaging Het
Dzip3 A T 16: 48,748,707 (GRCm39) D870E probably damaging Het
Efcab12 T C 6: 115,800,331 (GRCm39) T231A possibly damaging Het
Efl1 A C 7: 82,412,596 (GRCm39) D995A probably benign Het
Fam186a T C 15: 99,842,393 (GRCm39) T1284A possibly damaging Het
Fbxo33 T C 12: 59,251,708 (GRCm39) E269G probably benign Het
Foxj3 T A 4: 119,483,540 (GRCm39) M604K unknown Het
Gabra4 A G 5: 71,814,463 (GRCm39) S86P unknown Het
Gnas G A 2: 174,140,639 (GRCm39) W269* probably null Het
Gpc6 T G 14: 118,202,258 (GRCm39) N489K probably damaging Het
Gprin3 T C 6: 59,331,236 (GRCm39) K357R possibly damaging Het
Grip1 G T 10: 119,811,906 (GRCm39) A286S possibly damaging Het
Grm4 A T 17: 27,721,688 (GRCm39) V151E probably damaging Het
Gucy1b1 A T 3: 81,942,065 (GRCm39) S565T possibly damaging Het
Hace1 T C 10: 45,525,014 (GRCm39) V260A probably benign Het
Hepacam2 A G 6: 3,486,940 (GRCm39) I139T probably damaging Het
Hspa4l T C 3: 40,727,057 (GRCm39) I486T probably benign Het
Igkv8-19 T C 6: 70,317,866 (GRCm39) Y120C probably damaging Het
Iglv2 C T 16: 19,079,548 (GRCm39) probably benign Het
Igsf10 A T 3: 59,237,106 (GRCm39) L1025H probably damaging Het
Itpkb A G 1: 180,161,752 (GRCm39) N626S probably benign Het
Jarid2 C T 13: 45,068,253 (GRCm39) R1092W possibly damaging Het
Klc3 C T 7: 19,132,023 (GRCm39) W118* probably null Het
Klhl25 C T 7: 75,516,741 (GRCm39) T549I probably damaging Het
Krtap6-2 T A 16: 89,216,763 (GRCm39) Y68F unknown Het
Mtcl1 T C 17: 66,673,347 (GRCm39) N1121D probably benign Het
Ncbp3 A G 11: 72,961,668 (GRCm39) K314R probably benign Het
Nop2 T C 6: 125,121,272 (GRCm39) W685R probably benign Het
Orc1 T A 4: 108,447,874 (GRCm39) D40E probably benign Het
Pappa2 G T 1: 158,684,948 (GRCm39) N730K probably damaging Het
Parpbp A G 10: 87,960,815 (GRCm39) S224P possibly damaging Het
Pdgfc A G 3: 80,944,792 (GRCm39) R17G probably benign Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Pik3r6 T A 11: 68,424,358 (GRCm39) L321* probably null Het
Pnp2 T C 14: 51,197,006 (GRCm39) W31R probably damaging Het
Prr12 T C 7: 44,696,954 (GRCm39) Y987C unknown Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Prss23 T C 7: 89,159,683 (GRCm39) I129V probably damaging Het
Rhno1 T C 6: 128,336,119 (GRCm39) T39A probably damaging Het
Rps2 A T 17: 24,940,810 (GRCm39) R279* probably null Het
Ski T C 4: 155,244,344 (GRCm39) K427R probably damaging Het
Slc23a3 ATT ATTT 1: 75,109,925 (GRCm39) probably null Het
Slc26a7 C T 4: 14,546,372 (GRCm39) G319D probably damaging Het
Slc7a6os A G 8: 106,937,523 (GRCm39) V8A probably damaging Het
Smim8 A C 4: 34,771,265 (GRCm39) I43S probably damaging Het
Sox5 T C 6: 143,819,842 (GRCm39) K400R probably damaging Het
Tab1 G A 15: 80,032,943 (GRCm39) V76M probably damaging Het
Taf2 A C 15: 54,894,440 (GRCm39) probably null Het
Taf5 G A 19: 47,059,434 (GRCm39) V193M probably damaging Het
Tm2d1 A T 4: 98,246,261 (GRCm39) S180R probably damaging Het
Ttc12 A G 9: 49,368,166 (GRCm39) F287S probably damaging Het
Ubqln4 G A 3: 88,473,185 (GRCm39) probably null Het
Ugt8a A G 3: 125,708,900 (GRCm39) L70P probably damaging Het
Vps26a A T 10: 62,316,433 (GRCm39) N51K probably benign Het
Xkr5 T A 8: 18,990,749 (GRCm39) T173S probably benign Het
Zfp354c A G 11: 50,706,239 (GRCm39) C279R probably damaging Het
Zfp65 T A 13: 67,856,478 (GRCm39) H267L probably 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
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
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'- AGCGAAATATGGCCATCAAGC -3'
(R):5'- TCAGTTAGGGGTCCAGTCTATG -3'

Sequencing Primer
(F):5'- GCGAAATATGGCCATCAAGCATTTC -3'
(R):5'- GCCTGCCACATCTAAGGTTG -3'
Posted On 2022-11-14