Incidental Mutation 'R2112:Ubr3'
ID 232627
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 040116-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2112 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 69727590-69854357 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69808136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1206 (T1206A)
Ref Sequence ENSEMBL: ENSMUSP00000107870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055758] [ENSMUST00000112251]
AlphaFold Q5U430
Predicted Effect possibly damaging
Transcript: ENSMUST00000055758
AA Change: T1207A

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: T1207A

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 possibly damaging
Transcript: ENSMUST00000112251
AA Change: T1206A

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: T1206A

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: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A G 5: 121,638,777 (GRCm39) probably benign Het
Adprhl1 A G 8: 13,298,694 (GRCm39) Y79H probably damaging Het
Ambra1 T A 2: 91,706,132 (GRCm39) W746R probably damaging Het
Ankhd1 A T 18: 36,774,679 (GRCm39) K1420I probably damaging Het
Ap1b1 T C 11: 4,965,613 (GRCm39) F51L probably damaging Het
Arhgap24 A C 5: 103,040,366 (GRCm39) R434S probably damaging Het
Arhgap29 T C 3: 121,805,210 (GRCm39) L525P probably benign Het
Arpc1b T C 5: 145,060,579 (GRCm39) Y124H probably damaging Het
Arr3 T A X: 99,658,247 (GRCm39) F269L possibly damaging Het
Atp11b G T 3: 35,891,677 (GRCm39) V830F probably damaging Het
Ccdc71l T A 12: 32,429,229 (GRCm39) F83I probably damaging Het
Cdh23 G T 10: 60,141,362 (GRCm39) F3127L probably damaging Het
Cfap251 G A 5: 123,392,438 (GRCm39) probably benign Het
Cldn15 T A 5: 136,997,016 (GRCm39) M19K possibly damaging Het
Cog4 A G 8: 111,585,214 (GRCm39) Y292C possibly damaging Het
Col12a1 A G 9: 79,551,181 (GRCm39) V2145A possibly damaging Het
Col5a3 T C 9: 20,721,073 (GRCm39) I110V unknown Het
Cps1 T A 1: 67,216,139 (GRCm39) D821E probably benign Het
Crnkl1 A T 2: 145,772,617 (GRCm39) Y153* probably null Het
Dock10 T A 1: 80,483,359 (GRCm39) K2082M probably damaging Het
Dock10 T C 1: 80,483,360 (GRCm39) K2083E probably damaging Het
Dst T C 1: 34,208,259 (GRCm39) S737P probably damaging Het
Dthd1 T C 5: 63,000,222 (GRCm39) S515P probably damaging Het
Dthd1 T C 5: 62,979,251 (GRCm39) Y304H probably damaging Het
Etf1 A T 18: 35,042,154 (GRCm39) probably null Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galt A G 4: 41,758,245 (GRCm39) T337A probably benign Het
Gbp4 A G 5: 105,283,042 (GRCm39) L76P possibly damaging Het
Gcfc2 C A 6: 81,900,759 (GRCm39) D24E probably benign Het
Gigyf2 A G 1: 87,368,452 (GRCm39) H1044R probably damaging Het
Glg1 T C 8: 111,919,178 (GRCm39) D315G probably damaging Het
Gm4787 C T 12: 81,424,607 (GRCm39) C517Y probably damaging Het
Gnl3l A G X: 149,780,290 (GRCm39) S217P probably damaging Het
Gpr37 T C 6: 25,669,380 (GRCm39) Y488C possibly damaging Het
Hap1 T C 11: 100,244,825 (GRCm39) D240G probably benign Het
Hhla1 C G 15: 65,808,232 (GRCm39) W271S probably benign Het
Hmgxb3 T C 18: 61,288,458 (GRCm39) R470G possibly damaging Het
Inpp5a A G 7: 139,154,877 (GRCm39) D332G probably damaging Het
Insr A G 8: 3,219,748 (GRCm39) S925P probably benign Het
Isoc2b T A 7: 4,852,474 (GRCm39) D171V probably damaging Het
Kif20b T C 19: 34,909,132 (GRCm39) I223T probably benign Het
Krt6b T C 15: 101,586,999 (GRCm39) T258A possibly damaging Het
Lipo4 G A 19: 33,488,926 (GRCm39) P219L probably benign Het
Luc7l T C 17: 26,474,101 (GRCm39) probably null Het
Madd T C 2: 91,007,321 (GRCm39) K264E possibly damaging Het
Mcf2l A T 8: 13,051,867 (GRCm39) K433N probably damaging Het
Mob3b A T 4: 35,083,795 (GRCm39) N131K probably damaging Het
Mtus1 G T 8: 41,475,608 (GRCm39) P819T probably damaging Het
Myo15a T C 11: 60,384,994 (GRCm39) F1699L probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Neb G C 2: 52,218,776 (GRCm39) T78S probably damaging Het
Nek2 T C 1: 191,559,320 (GRCm39) V275A probably benign Het
Nfatc1 A T 18: 80,678,879 (GRCm39) C836* probably null Het
Nos1 T C 5: 118,074,636 (GRCm39) V1060A probably benign Het
Notch3 T A 17: 32,363,584 (GRCm39) I1160F probably benign Het
Nox4 T C 7: 87,021,216 (GRCm39) L476P probably damaging Het
Npc1 A T 18: 12,346,529 (GRCm39) N222K possibly damaging Het
Nrn1l C A 8: 106,621,378 (GRCm39) H109Q possibly damaging Het
Or4c11 T C 2: 88,695,545 (GRCm39) S199P possibly damaging Het
Or4k15 G T 14: 50,364,080 (GRCm39) L15F probably damaging Het
Or6d13 T C 6: 116,517,611 (GRCm39) Y66H possibly damaging Het
Or7a41 T C 10: 78,871,248 (GRCm39) L206P probably damaging Het
Or8g27 T C 9: 39,129,075 (GRCm39) Y141H probably benign Het
Or8g33 C A 9: 39,337,966 (GRCm39) V134L probably benign Het
Pcnt T C 10: 76,256,360 (GRCm39) K627E probably damaging Het
Plch1 T A 3: 63,630,227 (GRCm39) T514S probably damaging Het
Ppargc1b G A 18: 61,444,321 (GRCm39) P297S probably benign Het
Ppig A G 2: 69,580,451 (GRCm39) T662A unknown Het
Prdm2 A C 4: 142,858,506 (GRCm39) S1595A probably benign Het
Ptpn5 T A 7: 46,732,890 (GRCm39) T318S probably benign Het
Ralgps2 A G 1: 156,660,278 (GRCm39) Y265H probably damaging Het
Seh1l T C 18: 67,920,249 (GRCm39) I182T probably damaging Het
Slc12a6 T C 2: 112,186,830 (GRCm39) I943T probably damaging Het
Slc5a5 A T 8: 71,342,395 (GRCm39) probably null Het
Sparcl1 T A 5: 104,236,289 (GRCm39) Q488L probably damaging Het
Sphkap T G 1: 83,253,602 (GRCm39) K1382N probably benign Het
Sybu T C 15: 44,536,731 (GRCm39) S532G probably benign Het
Syde2 G A 3: 145,704,241 (GRCm39) G131S possibly damaging Het
Taok1 C T 11: 77,462,472 (GRCm39) V206I probably benign Het
Tas1r2 G T 4: 139,382,666 (GRCm39) M101I probably benign Het
Trpc6 C T 9: 8,656,613 (GRCm39) T680I probably damaging Het
Trub1 T C 19: 57,473,646 (GRCm39) probably null Het
Tspan1 G T 4: 116,020,885 (GRCm39) probably null Het
Ttc28 G A 5: 111,424,139 (GRCm39) E1438K probably damaging Het
Ulbp3 C T 10: 3,076,459 (GRCm39) noncoding transcript Het
Usp40 A G 1: 87,877,936 (GRCm39) I1117T probably benign Het
Usp43 G T 11: 67,812,536 (GRCm39) N113K probably damaging Het
Vcan T A 13: 89,841,422 (GRCm39) D414V probably damaging Het
Vmn1r202 T A 13: 22,685,904 (GRCm39) Y171F possibly damaging Het
Zfp142 A G 1: 74,612,795 (GRCm39) S451P probably damaging Het
Zfp516 A G 18: 82,975,536 (GRCm39) D578G probably damaging Het
Zfp90 G A 8: 107,152,120 (GRCm39) C611Y probably damaging Het
Zfp954 A G 7: 7,118,609 (GRCm39) C312R probably damaging Het
Zmym3 A T X: 100,450,993 (GRCm39) V1208D 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
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'- GGTACAGGAAATAGGTTGCTCTTG -3'
(R):5'- TTGTGCTCAACAACAAAATGGC -3'

Sequencing Primer
(F):5'- ACAGGAAATAGGTTGCTCTTGATTTG -3'
(R):5'- GATTGACCTAAGTTGTCGCATGACC -3'
Posted On 2014-09-18