Incidental Mutation 'R8679:Ube2o'
ID 661614
Institutional Source Beutler Lab
Gene Symbol Ube2o
Ensembl Gene ENSMUSG00000020802
Gene Name ubiquitin-conjugating enzyme E2O
Synonyms B230113M03Rik
MMRRC Submission 068534-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.823) question?
Stock # R8679 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116428566-116472273 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 116432273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 898 (E898*)
Ref Sequence ENSEMBL: ENSMUSP00000080791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063396] [ENSMUST00000063446] [ENSMUST00000082152] [ENSMUST00000100201] [ENSMUST00000106386] [ENSMUST00000106387] [ENSMUST00000106388] [ENSMUST00000141798]
AlphaFold Q6ZPJ3
Predicted Effect probably benign
Transcript: ENSMUST00000063396
SMART Domains Protein: ENSMUSP00000064743
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
low complexity region 257 263 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063446
SMART Domains Protein: ENSMUSP00000067865
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
low complexity region 257 263 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000082152
AA Change: E898*
SMART Domains Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: E898*

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 probably benign
Transcript: ENSMUST00000100201
SMART Domains Protein: ENSMUSP00000097775
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
DAGKc 15 152 1.19e-8 SMART
low complexity region 256 262 N/A INTRINSIC
low complexity region 367 381 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106386
SMART Domains Protein: ENSMUSP00000101994
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
low complexity region 257 263 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106387
SMART Domains Protein: ENSMUSP00000101995
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
low complexity region 257 263 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106388
SMART Domains Protein: ENSMUSP00000101996
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
low complexity region 257 263 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141798
SMART Domains Protein: ENSMUSP00000131010
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
DAGKc 22 159 1.19e-8 SMART
low complexity region 263 269 N/A INTRINSIC
low complexity region 374 388 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 98% (91/93)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,152,479 (GRCm39) T1356A possibly damaging Het
Ace3 A G 11: 105,886,701 (GRCm39) T154A probably benign Het
Arhgap31 C A 16: 38,422,966 (GRCm39) Q1033H probably damaging Het
C1qtnf1 C T 11: 118,337,340 (GRCm39) R57* probably null Het
Cacna1g T C 11: 94,319,962 (GRCm39) T1405A probably damaging Het
Cacna1i A G 15: 80,260,011 (GRCm39) probably benign Het
Cdca4 T A 12: 112,785,734 (GRCm39) probably null Het
Cpa4 T A 6: 30,585,158 (GRCm39) M314K probably damaging Het
Cpn2 A T 16: 30,078,085 (GRCm39) S539T possibly damaging Het
Crebbp A G 16: 3,902,322 (GRCm39) S2306P probably damaging Het
Cspg4b A G 13: 113,488,163 (GRCm39) R9G Het
Dcaf5 T C 12: 80,385,807 (GRCm39) H773R probably benign Het
Dcun1d2 A T 8: 13,311,406 (GRCm39) D194E probably benign Het
Dnah1 G T 14: 30,989,767 (GRCm39) R3250S possibly damaging Het
Dnajc25 A C 4: 59,020,195 (GRCm39) K206T possibly damaging Het
Dnajc27 T C 12: 4,146,325 (GRCm39) L118P possibly damaging Het
Etl4 C T 2: 20,714,288 (GRCm39) T129I probably damaging Het
Faap100 A G 11: 120,263,003 (GRCm39) I785T probably damaging Het
Fam227b A T 2: 125,830,928 (GRCm39) D425E probably benign Het
Fat4 C G 3: 39,064,842 (GRCm39) L4933V probably damaging Het
Fbrsl1 A G 5: 110,526,086 (GRCm39) F39L probably damaging Het
Fezf1 A G 6: 23,247,769 (GRCm39) V102A probably benign Het
Gabra2 T C 5: 71,170,040 (GRCm39) probably benign Het
Garnl3 C A 2: 32,916,106 (GRCm39) R346L probably damaging Het
Grin2a A T 16: 9,403,089 (GRCm39) I799N possibly damaging Het
Hspa4 A G 11: 53,160,691 (GRCm39) F462L probably damaging Het
Iars1 C A 13: 49,856,675 (GRCm39) probably benign Het
Igkv6-32 C T 6: 70,051,063 (GRCm39) V98M possibly damaging Het
Il31ra A G 13: 112,662,372 (GRCm39) F560S possibly damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kif2a G A 13: 107,116,049 (GRCm39) T299I probably damaging Het
Leo1 T A 9: 75,373,544 (GRCm39) Y656* probably null Het
Lpcat2 T A 8: 93,635,864 (GRCm39) V422D probably damaging Het
Lrrcc1 T A 3: 14,601,084 (GRCm39) S39T probably benign Het
Macf1 A T 4: 123,405,869 (GRCm39) S341T probably benign Het
Mc2r T A 18: 68,540,879 (GRCm39) Y138F probably damaging Het
Mepe A G 5: 104,485,754 (GRCm39) N298S possibly damaging Het
Mmp15 C A 8: 96,092,982 (GRCm39) N120K possibly damaging Het
Mrps9 A G 1: 42,918,915 (GRCm39) R106G probably damaging Het
Muc16 T A 9: 18,557,744 (GRCm39) M2850L unknown Het
Mxra8 T A 4: 155,927,122 (GRCm39) I352N probably damaging Het
Myo16 G A 8: 10,411,042 (GRCm39) V167I unknown Het
Neb T C 2: 52,215,051 (GRCm39) D209G probably damaging Het
Nlgn2 A G 11: 69,716,309 (GRCm39) V744A probably benign Het
Notch2 A G 3: 98,029,218 (GRCm39) probably null Het
Nr1d1 G C 11: 98,660,073 (GRCm39) R484G probably damaging Het
Or14c42-ps1 A T 7: 86,211,147 (GRCm39) H69L unknown Het
Or5ak20 T C 2: 85,183,953 (GRCm39) T106A probably benign Het
Or5k16 G A 16: 58,736,843 (GRCm39) R54C probably benign Het
Or9k2b T C 10: 130,016,702 (GRCm39) I16V probably benign Het
Oxa1l A G 14: 54,605,248 (GRCm39) probably null Het
Piwil4 T C 9: 14,616,322 (GRCm39) D15G Het
Plcz1 C A 6: 139,949,612 (GRCm39) W461L probably damaging Het
Plek A T 11: 16,944,676 (GRCm39) I118N probably damaging Het
Poc1b C A 10: 99,000,728 (GRCm39) probably benign Het
Potefam1 A T 2: 111,059,567 (GRCm39) M64K possibly damaging Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
Prss36 T C 7: 127,532,635 (GRCm39) T739A possibly damaging Het
Psme2 A T 14: 55,827,074 (GRCm39) probably null Het
Ptprb T G 10: 116,203,495 (GRCm39) V1802G probably damaging Het
Rabep2 C A 7: 126,034,848 (GRCm39) Y84* probably null Het
Rbbp6 T G 7: 122,600,516 (GRCm39) S1508A unknown Het
Rel A T 11: 23,692,430 (GRCm39) D534E probably benign Het
Rpgrip1 G A 14: 52,396,852 (GRCm39) S1258N probably damaging Het
Rprml T C 11: 103,540,953 (GRCm39) L116P probably damaging Het
Rsph10b A G 5: 143,887,112 (GRCm39) T323A possibly damaging Het
Rtn4rl1 A G 11: 75,156,099 (GRCm39) H177R probably damaging Het
Sag A G 1: 87,738,032 (GRCm39) T24A probably benign Het
Scgb2b26 G T 7: 33,643,784 (GRCm39) T52N probably damaging Het
Scn10a T C 9: 119,501,194 (GRCm39) I197V probably damaging Het
Sec24c T A 14: 20,742,927 (GRCm39) V1003D possibly damaging Het
Sirt2 G A 7: 28,471,261 (GRCm39) G30E probably damaging Het
Slc13a5 T A 11: 72,149,919 (GRCm39) Q197L probably benign Het
Slc44a3 A T 3: 121,283,918 (GRCm39) S445T probably damaging Het
Slc7a7 A T 14: 54,610,449 (GRCm39) V399E probably benign Het
Smarcad1 T A 6: 65,088,865 (GRCm39) D1000E probably benign Het
Sorcs2 G T 5: 36,196,657 (GRCm39) Q663K probably benign Het
Stat4 A G 1: 52,118,991 (GRCm39) R345G probably null Het
Sycp2 G A 2: 177,992,768 (GRCm39) R1261C probably damaging Het
Tcf19 T C 17: 35,825,381 (GRCm39) I259V probably benign Het
Thada T A 17: 84,536,637 (GRCm39) R1636S probably benign Het
Tnrc6c T C 11: 117,604,961 (GRCm39) L32P probably benign Het
Tonsl G A 15: 76,517,076 (GRCm39) T881I probably benign Het
Tonsl A C 15: 76,518,263 (GRCm39) C570G probably damaging Het
Usp5 T C 6: 124,794,394 (GRCm39) H762R possibly damaging Het
Vmn2r15 A G 5: 109,434,779 (GRCm39) S642P probably benign Het
Vmn2r23 T C 6: 123,690,431 (GRCm39) W436R probably damaging Het
Vps13d A C 4: 144,811,977 (GRCm39) I3343M Het
Wbp11 T C 6: 136,799,932 (GRCm39) K83E probably damaging Het
Zfp26 T A 9: 20,356,201 (GRCm39) N36Y possibly damaging Het
Zfp57 T A 17: 37,320,938 (GRCm39) I264N 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
R4749:Ube2o UTSW 11 116,432,734 (GRCm39) missense probably benign 0.11
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
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'- GGGGCTGGAACTCAATCTTC -3'
(R):5'- TCAAGAACATGACTGTGGAGC -3'

Sequencing Primer
(F):5'- GGGCTGGAACTCAATCTTCTTGAAAG -3'
(R):5'- CACCGTGGAGCCTGAGAAG -3'
Posted On 2021-03-08