Incidental Mutation 'R0710:Ubr3'
ID 62687
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 038893-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0710 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 69727590-69854357 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69783181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 706 (S706P)
Ref Sequence ENSEMBL: ENSMUSP00000107870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055758] [ENSMUST00000112251]
AlphaFold Q5U430
Predicted Effect probably damaging
Transcript: ENSMUST00000055758
AA Change: S707P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: S707P

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 damaging
Transcript: ENSMUST00000112251
AA Change: S706P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: S706P

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Celsr2 A G 3: 108,320,028 (GRCm39) V928A probably benign Het
Farp1 C T 14: 121,474,555 (GRCm39) T256M probably damaging Het
Fbxl3 G T 14: 103,326,751 (GRCm39) H162Q probably damaging Het
Glra3 C T 8: 56,578,399 (GRCm39) probably benign Het
Gpatch8 A G 11: 102,372,759 (GRCm39) S260P unknown Het
Hectd4 G A 5: 121,474,691 (GRCm39) V2771I probably benign Het
Hgf C A 5: 16,771,761 (GRCm39) C129* probably null Het
Hmg20a G A 9: 56,381,954 (GRCm39) D77N possibly damaging Het
Iqch A T 9: 63,432,418 (GRCm39) S287T probably benign Het
Kcnj11 T C 7: 45,748,549 (GRCm39) Y258C probably benign Het
Kif1c A G 11: 70,617,323 (GRCm39) T874A probably benign Het
Mlc1 G T 15: 88,862,067 (GRCm39) Q50K possibly damaging Het
Mtor T C 4: 148,548,848 (GRCm39) S544P possibly damaging Het
Mypop A T 7: 18,734,485 (GRCm39) probably null Het
Poli A T 18: 70,655,961 (GRCm39) probably null Het
Rasa3 C A 8: 13,633,830 (GRCm39) V478L probably damaging Het
Scn3a A T 2: 65,299,390 (GRCm39) M1372K probably damaging Het
Sinhcaf A G 6: 148,834,498 (GRCm39) probably null Het
Sis T C 3: 72,859,864 (GRCm39) Q297R probably damaging Het
Tnpo3 T C 6: 29,586,074 (GRCm39) D172G possibly damaging Het
Tulp2 T A 7: 45,170,232 (GRCm39) V301D possibly damaging Het
Ubr2 G A 17: 47,249,607 (GRCm39) R1582W probably damaging Het
Vmn1r171 C A 7: 23,332,426 (GRCm39) S205Y probably damaging Het
Wnk4 G A 11: 101,164,932 (GRCm39) A754T probably benign Het
Zfp282 C T 6: 47,857,318 (GRCm39) R184W 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
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
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
Posted On 2013-07-30