Incidental Mutation 'R6918:Ube2e3'
ID 539433
Institutional Source Beutler Lab
Gene Symbol Ube2e3
Ensembl Gene ENSMUSG00000027011
Gene Name ubiquitin-conjugating enzyme E2E 3
Synonyms Ubce4, ubcM2
MMRRC Submission 045005-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.751) question?
Stock # R6918 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 78698468-78751637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78750383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 203 (K203M)
Ref Sequence ENSEMBL: ENSMUSP00000113463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028398] [ENSMUST00000121433]
AlphaFold P52483
Predicted Effect probably damaging
Transcript: ENSMUST00000028398
AA Change: K203M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028398
Gene: ENSMUSG00000027011
AA Change: K203M

DomainStartEndE-ValueType
low complexity region 8 38 N/A INTRINSIC
UBCc 64 207 3.91e-71 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121433
AA Change: K203M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113463
Gene: ENSMUSG00000027011
AA Change: K203M

DomainStartEndE-ValueType
low complexity region 8 38 N/A INTRINSIC
UBCc 64 207 3.91e-71 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A C 17: 24,627,632 (GRCm39) K1359Q probably damaging Het
Ace T C 11: 105,863,769 (GRCm39) Y406H probably damaging Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Alms1 T A 6: 85,599,643 (GRCm39) Y1959N possibly damaging Het
Chrna7 T A 7: 62,809,299 (GRCm39) I76F probably benign Het
Cuedc1 C T 11: 88,077,899 (GRCm39) T296I probably benign Het
Ddc A G 11: 11,769,307 (GRCm39) V409A probably damaging Het
Dhx8 T A 11: 101,629,247 (GRCm39) Y212* probably null Het
Dnah6 T A 6: 73,158,738 (GRCm39) K622* probably null Het
Dscaml1 A G 9: 45,341,805 (GRCm39) H72R probably benign Het
Dyrk1b A G 7: 27,885,350 (GRCm39) D396G probably damaging Het
Gstm2 A G 3: 107,892,557 (GRCm39) probably null Het
Hsd3b1 A G 3: 98,760,425 (GRCm39) Y189H probably damaging Het
Kif1c G A 11: 70,597,813 (GRCm39) E356K probably damaging Het
Kirrel2 A C 7: 30,150,239 (GRCm39) C17G probably damaging Het
Klhl12 A G 1: 134,403,584 (GRCm39) H259R possibly damaging Het
Krt1 A G 15: 101,758,612 (GRCm39) V184A probably damaging Het
Lmod2 A T 6: 24,603,594 (GRCm39) N190Y probably benign Het
Lrp2 A C 2: 69,319,649 (GRCm39) V1958G probably damaging Het
Ly6h T C 15: 75,437,507 (GRCm39) S37G probably damaging Het
Man2a2 A T 7: 80,002,940 (GRCm39) H1056Q possibly damaging Het
Misp3 T G 8: 84,738,313 (GRCm39) M1L probably benign Het
Mixl1 T A 1: 180,522,243 (GRCm39) I213F probably benign Het
Morc3 T C 16: 93,650,023 (GRCm39) I268T probably benign Het
Mtx2 C T 2: 74,706,697 (GRCm39) T224I probably damaging Het
Or8c15 G A 9: 38,120,948 (GRCm39) V198M possibly damaging Het
Oscp1 A C 4: 125,970,571 (GRCm39) D120A possibly damaging Het
Parp1 G A 1: 180,416,235 (GRCm39) V545I possibly damaging Het
Pipox A G 11: 77,772,380 (GRCm39) I330T probably damaging Het
Pkp2 A G 16: 16,090,082 (GRCm39) Y790C probably damaging Het
Pomt1 T A 2: 32,142,873 (GRCm39) probably null Het
Pp2d1 G A 17: 53,822,487 (GRCm39) T193M probably damaging Het
Prkra G T 2: 76,460,797 (GRCm39) H300Q probably damaging Het
Ror2 T G 13: 53,265,487 (GRCm39) N523T probably damaging Het
Rp1 A T 1: 4,069,831 (GRCm39) D1355E unknown Het
Rsph4a T C 10: 33,781,272 (GRCm39) Y41H probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Taar7e T A 10: 23,913,513 (GRCm39) M1K probably null Het
Tex15 T G 8: 34,063,212 (GRCm39) L1155V probably benign Het
Tmprss3 T C 17: 31,407,331 (GRCm39) K321E probably benign Het
Trappc14 A G 5: 138,258,926 (GRCm39) V211A probably benign Het
Tsc2 A T 17: 24,832,203 (GRCm39) C728S probably damaging Het
Unc50 A T 1: 37,477,783 (GRCm39) T222S probably damaging Het
Vmn1r236 A T 17: 21,507,878 (GRCm39) H332L probably benign Het
Vmn2r7 G A 3: 64,598,760 (GRCm39) T599I probably benign Het
Zfp334 A T 2: 165,223,799 (GRCm39) D81E possibly damaging Het
Zfp710 A G 7: 79,731,788 (GRCm39) I322V possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCTGCCAAACTGTAGCTG -3'
(R):5'- GATATCCCAAAGAAGCAAGACTTG -3'

Sequencing Primer
(F):5'- ACTTTTCCAGCGGATCC -3'
(R):5'- CTACAGCTACAAAGTTCTACTCTTGG -3'
Posted On 2018-11-06