Incidental Mutation 'R4749:Ube2o'
ID 357419
Institutional Source Beutler Lab
Gene Symbol Ube2o
Ensembl Gene ENSMUSG00000020802
Gene Name ubiquitin-conjugating enzyme E2O
Synonyms B230113M03Rik
MMRRC Submission 041969-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.823) question?
Stock # R4749 (G1)
Quality Score 215
Status Not validated
Chromosome 11
Chromosomal Location 116428566-116472273 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116432734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 744 (D744G)
Ref Sequence ENSEMBL: ENSMUSP00000080791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082152]
AlphaFold Q6ZPJ3
Predicted Effect probably benign
Transcript: ENSMUST00000082152
AA Change: D744G

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: D744G

DomainStartEndE-ValueType
low complexity region 2 47 N/A INTRINSIC
low complexity region 79 110 N/A INTRINSIC
low complexity region 289 298 N/A INTRINSIC
low complexity region 379 391 N/A INTRINSIC
low complexity region 470 505 N/A INTRINSIC
low complexity region 516 528 N/A INTRINSIC
low complexity region 705 712 N/A INTRINSIC
low complexity region 715 737 N/A INTRINSIC
coiled coil region 845 879 N/A INTRINSIC
UBCc 953 1110 2.23e-16 SMART
Blast:UBCc 1201 1274 1e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147851
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased MEF proliferation and transformation and increased pre-weaning lethality. Mice heterozygous for the allele exhibit increased total body fat amount, increased startle reflex, increased grip strength and increased circulating HDL cholesterol. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,204,153 (GRCm39) D79E probably benign Het
Adgra2 A G 8: 27,604,225 (GRCm39) K472E probably damaging Het
Akap9 A G 5: 4,018,737 (GRCm39) D1106G probably benign Het
Arhgap35 T C 7: 16,232,551 (GRCm39) E1367G possibly damaging Het
Arsi A T 18: 61,050,533 (GRCm39) Y472F probably benign Het
Asxl3 A G 18: 22,649,826 (GRCm39) D605G probably damaging Het
Atp6v1e2 C T 17: 87,252,135 (GRCm39) D88N probably benign Het
BC061237 T A 14: 44,743,469 (GRCm39) V169E probably damaging Het
C1galt1 A G 6: 7,866,379 (GRCm39) E75G probably benign Het
C9 G A 15: 6,519,311 (GRCm39) V383I probably benign Het
Ccdc88a A G 11: 29,432,720 (GRCm39) K222R probably benign Het
Ccna2 T C 3: 36,620,391 (GRCm39) S421G probably benign Het
Cflar T G 1: 58,779,431 (GRCm39) V229G possibly damaging Het
Clcn1 A G 6: 42,267,131 (GRCm39) probably null Het
Col14a1 T A 15: 55,315,732 (GRCm39) F1342L unknown Het
Colq C T 14: 31,251,472 (GRCm39) R313H possibly damaging Het
Coro6 A G 11: 77,359,974 (GRCm39) E345G probably damaging Het
Cracd T C 5: 77,006,681 (GRCm39) V1014A unknown Het
Cyb561 A G 11: 105,826,708 (GRCm39) F182L probably benign Het
Dap3 A G 3: 88,833,617 (GRCm39) S317P probably benign Het
Dnah9 G A 11: 65,724,941 (GRCm39) A4404V probably damaging Het
Dsg4 A G 18: 20,579,888 (GRCm39) E31G possibly damaging Het
Dsn1 G A 2: 156,843,660 (GRCm39) L147F probably damaging Het
Dysf T C 6: 84,043,990 (GRCm39) V277A probably damaging Het
Eprs1 T A 1: 185,128,327 (GRCm39) I569K probably damaging Het
Erg T C 16: 95,162,029 (GRCm39) N342S probably damaging Het
Fam114a1 G A 5: 65,166,409 (GRCm39) D247N probably damaging Het
Fat2 A G 11: 55,202,294 (GRCm39) V260A probably benign Het
Foxn4 T C 5: 114,393,628 (GRCm39) D497G probably damaging Het
Fsip2 A G 2: 82,819,629 (GRCm39) I5121V probably benign Het
Gcn1 T A 5: 115,752,461 (GRCm39) D2155E probably benign Het
Glra1 C A 11: 55,427,210 (GRCm39) D42Y probably damaging Het
Gpr171 A G 3: 59,004,887 (GRCm39) V296A probably benign Het
Grid1 T A 14: 35,302,644 (GRCm39) S970T possibly damaging Het
Hcn3 A T 3: 89,057,370 (GRCm39) probably null Het
Helb T C 10: 119,920,754 (GRCm39) D1063G probably benign Het
Hsd3b3 G A 3: 98,649,931 (GRCm39) P131S probably damaging Het
Hsp90b1 A G 10: 86,537,672 (GRCm39) V211A probably damaging Het
Htr2c A G X: 145,976,793 (GRCm39) T163A probably benign Het
Ifi208 T A 1: 173,523,180 (GRCm39) D483E possibly damaging Het
Kbtbd6 T A 14: 79,690,727 (GRCm39) V474E possibly damaging Het
Kif21b T A 1: 136,072,487 (GRCm39) Y64* probably null Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Map3k10 T C 7: 27,357,786 (GRCm39) D664G possibly damaging Het
Map3k5 C A 10: 20,007,798 (GRCm39) S1201Y probably benign Het
Mcm2 T C 6: 88,868,973 (GRCm39) E293G possibly damaging Het
Med21 T A 6: 146,551,599 (GRCm39) probably null Het
Mettl18 T C 1: 163,824,354 (GRCm39) V225A probably benign Het
Mmp10 A T 9: 7,508,169 (GRCm39) I432F probably damaging Het
Muc5b T G 7: 141,415,185 (GRCm39) Y2710* probably null Het
Neurl4 A T 11: 69,801,894 (GRCm39) I1282F probably benign Het
Nipbl A T 15: 8,395,313 (GRCm39) H191Q possibly damaging Het
Nktr A G 9: 121,570,759 (GRCm39) D167G probably damaging Het
Nrap A G 19: 56,368,669 (GRCm39) I249T probably damaging Het
Nsfl1c A G 2: 151,351,526 (GRCm39) T297A probably benign Het
Oit3 A T 10: 59,259,904 (GRCm39) C500S probably damaging Het
Or1e1 G A 11: 73,245,322 (GRCm39) V248M probably damaging Het
Or4a39 C T 2: 89,236,599 (GRCm39) V275I probably benign Het
Or4k6 A G 14: 50,476,190 (GRCm39) S51P probably damaging Het
Or5b24 C T 19: 12,912,581 (GRCm39) H160Y probably benign Het
Or5d36 T A 2: 87,900,956 (GRCm39) I257L probably benign Het
Pcnx2 T C 8: 126,614,327 (GRCm39) S375G probably damaging Het
Pgap6 T C 17: 26,335,757 (GRCm39) F48S probably damaging Het
Phf2 A T 13: 48,975,185 (GRCm39) probably null Het
Piezo1 A T 8: 123,213,678 (GRCm39) M1739K possibly damaging Het
Piezo1 G T 8: 123,224,945 (GRCm39) Q654K probably damaging Het
Pml C T 9: 58,141,935 (GRCm39) R299H probably damaging Het
Ppp3cb A T 14: 20,574,130 (GRCm39) M236K probably damaging Het
Prkch T A 12: 73,739,734 (GRCm39) C203S probably damaging Het
Prob1 C T 18: 35,785,869 (GRCm39) R795H possibly damaging Het
Prr22 G C 17: 57,078,274 (GRCm39) E142D possibly damaging Het
Prss56 C A 1: 87,113,305 (GRCm39) A211E possibly damaging Het
Qser1 A C 2: 104,617,649 (GRCm39) S1054R probably benign Het
Rhbdl2 T C 4: 123,720,694 (GRCm39) probably null Het
Rhot2 C A 17: 26,063,248 (GRCm39) G19V probably damaging Het
Rp1l1 C T 14: 64,267,249 (GRCm39) T945M probably damaging Het
Ryr3 T C 2: 112,794,750 (GRCm39) T121A possibly damaging Het
Sdad1 C T 5: 92,452,836 (GRCm39) R134Q possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Sharpin T A 15: 76,231,767 (GRCm39) D314V probably damaging Het
Slc14a2 A T 18: 78,198,796 (GRCm39) L778Q probably damaging Het
Slc29a3 A G 10: 60,552,105 (GRCm39) V313A probably benign Het
Slc4a11 C A 2: 130,532,787 (GRCm39) R222L probably damaging Het
Slc7a10 C T 7: 34,900,187 (GRCm39) P502S probably damaging Het
Sort1 T G 3: 108,263,639 (GRCm39) Y812* probably null Het
Spata31d1b G A 13: 59,866,172 (GRCm39) V1107M probably damaging Het
Tcp10b G A 17: 13,289,832 (GRCm39) probably null Het
Tnc T C 4: 63,913,876 (GRCm39) D1312G possibly damaging Het
Tomm40l G A 1: 171,047,131 (GRCm39) R296* probably null Het
Topors A T 4: 40,261,015 (GRCm39) S756R unknown Het
Trim9 T C 12: 70,295,047 (GRCm39) N688D probably damaging Het
Vmn1r224 A G 17: 20,640,013 (GRCm39) I197V probably benign Het
Zc3h18 A T 8: 123,110,382 (GRCm39) D77V probably damaging Het
Other mutations in Ube2o
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ube2o APN 11 116,435,580 (GRCm39) missense probably benign
IGL00973:Ube2o APN 11 116,432,031 (GRCm39) missense probably damaging 1.00
IGL01291:Ube2o APN 11 116,430,960 (GRCm39) missense probably damaging 1.00
IGL01804:Ube2o APN 11 116,435,199 (GRCm39) missense probably benign 0.03
IGL02138:Ube2o APN 11 116,434,226 (GRCm39) splice site probably benign
IGL02317:Ube2o APN 11 116,432,389 (GRCm39) missense probably damaging 1.00
IGL02515:Ube2o APN 11 116,434,525 (GRCm39) missense probably damaging 1.00
IGL02535:Ube2o APN 11 116,432,591 (GRCm39) missense probably benign 0.00
IGL03062:Ube2o APN 11 116,432,468 (GRCm39) missense probably damaging 0.99
IGL03145:Ube2o APN 11 116,434,835 (GRCm39) missense probably damaging 1.00
IGL03190:Ube2o APN 11 116,435,954 (GRCm39) missense probably damaging 1.00
Delay UTSW 11 116,430,898 (GRCm39) missense probably damaging 1.00
Tarry UTSW 11 116,432,194 (GRCm39) missense probably damaging 1.00
ANU05:Ube2o UTSW 11 116,430,960 (GRCm39) missense probably damaging 1.00
R0519:Ube2o UTSW 11 116,437,285 (GRCm39) critical splice donor site probably null
R0666:Ube2o UTSW 11 116,433,661 (GRCm39) missense probably damaging 1.00
R1056:Ube2o UTSW 11 116,437,290 (GRCm39) missense probably damaging 1.00
R1202:Ube2o UTSW 11 116,432,408 (GRCm39) missense probably damaging 1.00
R1424:Ube2o UTSW 11 116,434,558 (GRCm39) missense probably benign
R1469:Ube2o UTSW 11 116,436,650 (GRCm39) splice site probably benign
R1720:Ube2o UTSW 11 116,435,433 (GRCm39) missense probably benign
R1791:Ube2o UTSW 11 116,432,320 (GRCm39) missense probably benign 0.01
R1893:Ube2o UTSW 11 116,439,661 (GRCm39) missense possibly damaging 0.68
R1997:Ube2o UTSW 11 116,436,163 (GRCm39) missense probably damaging 0.99
R2156:Ube2o UTSW 11 116,471,972 (GRCm39) missense probably damaging 0.98
R2199:Ube2o UTSW 11 116,435,571 (GRCm39) missense probably benign
R2414:Ube2o UTSW 11 116,439,683 (GRCm39) missense probably benign 0.02
R3766:Ube2o UTSW 11 116,437,689 (GRCm39) splice site probably benign
R5213:Ube2o UTSW 11 116,432,285 (GRCm39) missense possibly damaging 0.82
R5403:Ube2o UTSW 11 116,439,633 (GRCm39) missense possibly damaging 0.48
R5441:Ube2o UTSW 11 116,435,268 (GRCm39) missense probably damaging 1.00
R5727:Ube2o UTSW 11 116,430,496 (GRCm39) missense probably damaging 1.00
R6125:Ube2o UTSW 11 116,435,576 (GRCm39) missense possibly damaging 0.50
R6125:Ube2o UTSW 11 116,432,204 (GRCm39) missense probably damaging 1.00
R6234:Ube2o UTSW 11 116,430,316 (GRCm39) missense probably benign 0.17
R6278:Ube2o UTSW 11 116,430,369 (GRCm39) missense probably damaging 1.00
R6324:Ube2o UTSW 11 116,430,185 (GRCm39) missense probably benign 0.00
R6346:Ube2o UTSW 11 116,432,194 (GRCm39) missense probably damaging 1.00
R6389:Ube2o UTSW 11 116,439,684 (GRCm39) missense probably null 0.72
R7040:Ube2o UTSW 11 116,432,686 (GRCm39) missense probably benign 0.08
R7072:Ube2o UTSW 11 116,432,327 (GRCm39) missense probably benign 0.13
R7270:Ube2o UTSW 11 116,434,761 (GRCm39) missense possibly damaging 0.62
R7420:Ube2o UTSW 11 116,430,898 (GRCm39) missense probably damaging 1.00
R7593:Ube2o UTSW 11 116,471,905 (GRCm39) missense possibly damaging 0.73
R7818:Ube2o UTSW 11 116,434,736 (GRCm39) missense probably damaging 1.00
R7916:Ube2o UTSW 11 116,471,884 (GRCm39) missense probably benign
R8212:Ube2o UTSW 11 116,439,624 (GRCm39) missense possibly damaging 0.54
R8679:Ube2o UTSW 11 116,432,273 (GRCm39) nonsense probably null
R9085:Ube2o UTSW 11 116,436,209 (GRCm39) missense probably damaging 1.00
R9221:Ube2o UTSW 11 116,433,664 (GRCm39) missense probably damaging 1.00
R9287:Ube2o UTSW 11 116,471,942 (GRCm39) missense probably damaging 1.00
R9388:Ube2o UTSW 11 116,430,210 (GRCm39) missense possibly damaging 0.90
R9569:Ube2o UTSW 11 116,434,823 (GRCm39) missense probably damaging 1.00
R9686:Ube2o UTSW 11 116,434,779 (GRCm39) missense probably benign
R9689:Ube2o UTSW 11 116,435,639 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- AGGATCTTGATGGCCTCCTTC -3'
(R):5'- CAGAGCTCCCCAGTATTAGAGTTC -3'

Sequencing Primer
(F):5'- TCAGCTCCCGGAAACTCTTGG -3'
(R):5'- CCCAGTATTAGAGTTCTGTCTGGAC -3'
Posted On 2015-11-11