Incidental Mutation 'R0069:Ube2e3'
ID 17276
Institutional Source Beutler Lab
Gene Symbol Ube2e3
Ensembl Gene ENSMUSG00000027011
Gene Name ubiquitin-conjugating enzyme E2E 3
Synonyms Ubce4, ubcM2
MMRRC Submission 038360-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.736) question?
Stock # R0069 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 78698468-78751637 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 78750293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028398] [ENSMUST00000121433]
AlphaFold P52483
Predicted Effect probably benign
Transcript: ENSMUST00000028398
SMART Domains Protein: ENSMUSP00000028398
Gene: ENSMUSG00000027011

DomainStartEndE-ValueType
low complexity region 8 38 N/A INTRINSIC
UBCc 64 207 3.91e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121433
SMART Domains Protein: ENSMUSP00000113463
Gene: ENSMUSG00000027011

DomainStartEndE-ValueType
low complexity region 8 38 N/A INTRINSIC
UBCc 64 207 3.91e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153266
Coding Region Coverage
  • 1x: 86.4%
  • 3x: 80.4%
  • 10x: 57.4%
  • 20x: 26.1%
Validation Efficiency 94% (60/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,538,525 (GRCm39) C632S probably damaging Het
Ccnb1ip1 G A 14: 81,519,382 (GRCm38) Q322* probably null Het
Cd101 A G 3: 100,915,533 (GRCm39) V678A probably benign Het
Creb1 A G 1: 64,615,367 (GRCm39) I240V possibly damaging Het
Dctn2 A T 10: 127,113,354 (GRCm39) probably null Het
Diablo A T 5: 123,656,087 (GRCm39) S117R probably damaging Het
Ebf2 A T 14: 67,647,499 (GRCm39) R349S probably damaging Het
Gne A C 4: 44,060,099 (GRCm39) V98G probably damaging Het
Ints3 A G 3: 90,307,954 (GRCm39) probably benign Het
Itgal A G 7: 126,909,503 (GRCm39) T56A probably benign Het
Lzts3 T A 2: 130,478,460 (GRCm39) T213S probably benign Het
Myo1d A G 11: 80,528,779 (GRCm39) I681T probably damaging Het
Pde8a T C 7: 80,968,871 (GRCm39) probably benign Het
Pole2 A T 12: 69,256,661 (GRCm39) V288E probably damaging Het
Poteg T C 8: 27,937,849 (GRCm39) S2P probably benign Het
Ppp2r5c A T 12: 110,534,204 (GRCm39) M356L probably benign Het
Rad54l2 C A 9: 106,587,564 (GRCm39) V734L possibly damaging Het
Ryr1 A C 7: 28,809,930 (GRCm39) probably benign Het
Slfn10-ps A G 11: 82,926,368 (GRCm39) noncoding transcript Het
Sult1e1 A T 5: 87,727,756 (GRCm39) H175Q probably damaging Het
Trgv7 A G 13: 19,362,592 (GRCm39) R94G probably benign Het
Vps13d A G 4: 144,789,133 (GRCm39) I746T probably benign Het
Xpnpep3 T C 15: 81,314,999 (GRCm39) V233A probably benign Het
Zfp329 A T 7: 12,544,859 (GRCm39) S222T probably damaging Het
Zswim6 T C 13: 107,875,098 (GRCm39) noncoding transcript Het
Other mutations in Ube2e3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02619:Ube2e3 APN 2 78,749,065 (GRCm39) missense probably damaging 1.00
gros UTSW 2 78,744,085 (GRCm39) missense probably benign 0.17
R0069:Ube2e3 UTSW 2 78,750,293 (GRCm39) splice site probably benign
R0586:Ube2e3 UTSW 2 78,750,334 (GRCm39) missense probably benign 0.41
R4609:Ube2e3 UTSW 2 78,749,056 (GRCm39) missense probably damaging 1.00
R6918:Ube2e3 UTSW 2 78,750,383 (GRCm39) missense probably damaging 1.00
R7136:Ube2e3 UTSW 2 78,744,085 (GRCm39) missense probably benign 0.17
R8480:Ube2e3 UTSW 2 78,749,158 (GRCm39) missense probably damaging 1.00
R9290:Ube2e3 UTSW 2 78,750,324 (GRCm39) missense probably damaging 1.00
R9329:Ube2e3 UTSW 2 78,744,035 (GRCm39) missense possibly damaging 0.87
Posted On 2013-01-20