Incidental Mutation 'R2173:Ubr3'
ID 237599
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 040175-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2173 (G1)
Quality Score 102
Status Validated
Chromosome 2
Chromosomal Location 69727590-69854357 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69727743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 35 (H35Q)
Ref Sequence ENSEMBL: ENSMUSP00000060159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055758] [ENSMUST00000112251]
AlphaFold Q5U430
Predicted Effect probably benign
Transcript: ENSMUST00000055758
AA Change: H35Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: H35Q

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 unknown
Transcript: ENSMUST00000112251
AA Change: H35Q
SMART Domains Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: H35Q

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 unknown
Transcript: ENSMUST00000131553
AA Change: H32Q
SMART Domains Protein: ENSMUSP00000121401
Gene: ENSMUSG00000044308
AA Change: H32Q

DomainStartEndE-ValueType
low complexity region 11 38 N/A INTRINSIC
low complexity region 65 86 N/A INTRINSIC
Pfam:zf-UBR 117 185 1.2e-21 PFAM
low complexity region 336 351 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Anapc2 T G 2: 25,163,288 (GRCm39) V175G probably benign Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam149a T C 8: 45,806,991 (GRCm39) D288G probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Gxylt2 T C 6: 100,775,115 (GRCm39) Y345H probably damaging Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hpx A T 7: 105,241,290 (GRCm39) S374T probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Impdh2 G A 9: 108,442,593 (GRCm39) probably null Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Nup153 A T 13: 46,855,076 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Otud4 T C 8: 80,395,093 (GRCm39) S543P probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Plin3 G T 17: 56,586,891 (GRCm39) D385E possibly damaging Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rbm6 A T 9: 107,729,390 (GRCm39) F419L possibly damaging Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Vps26a A T 10: 62,304,171 (GRCm39) I150N probably damaging Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H probably benign Het
Zfyve16 A G 13: 92,631,596 (GRCm39) M1333T 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
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'- CATCGCAGCAGTCAATTCC -3'
(R):5'- AAGTCGTGTCCAGTGTGGTC -3'

Sequencing Primer
(F):5'- GCAGCAGTCAATTCCCCCAC -3'
(R):5'- AAGTTGGCCGTCCAGACCAG -3'
Posted On 2014-10-02