Incidental Mutation 'R9290:Ube2e3'
ID 704188
Institutional Source Beutler Lab
Gene Symbol Ube2e3
Ensembl Gene ENSMUSG00000027011
Gene Name ubiquitin-conjugating enzyme E2E 3
Synonyms Ubce4, ubcM2
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.736) question?
Stock # R9290 (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 G at 78750324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 183 (I183M)
Ref Sequence ENSEMBL: ENSMUSP00000028398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028398] [ENSMUST00000121433]
AlphaFold P52483
Predicted Effect probably damaging
Transcript: ENSMUST00000028398
AA Change: I183M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028398
Gene: ENSMUSG00000027011
AA Change: I183M

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: I183M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113463
Gene: ENSMUSG00000027011
AA Change: I183M

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: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 A G 1: 156,457,538 (GRCm39) K268R probably damaging Het
Acvr1 T C 2: 58,338,330 (GRCm39) D464G probably damaging Het
Adra1d G T 2: 131,403,898 (GRCm39) T64K probably benign Het
Cct3 T C 3: 88,216,536 (GRCm39) V164A probably benign Het
Cdhr2 T C 13: 54,882,009 (GRCm39) V1153A possibly damaging Het
Cdkn2c A C 4: 109,518,512 (GRCm39) Y147* probably null Het
Ces1g A T 8: 94,029,545 (GRCm39) H562Q probably benign Het
Cfap221 A G 1: 119,853,381 (GRCm39) L771P probably benign Het
Chsy3 A G 18: 59,542,928 (GRCm39) M689V probably benign Het
Ciita T A 16: 10,326,513 (GRCm39) S235T probably damaging Het
Cracdl T A 1: 37,663,634 (GRCm39) R755W probably damaging Het
Dcdc2a A G 13: 25,386,313 (GRCm39) K396E probably benign Het
Dgki C T 6: 37,276,780 (GRCm39) C35Y unknown Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnai7 T C 6: 145,148,688 (GRCm39) E57G unknown Het
Eif3a A G 19: 60,765,221 (GRCm39) V322A probably damaging Het
Foxp2 A T 6: 15,197,120 (GRCm39) Q54L possibly damaging Het
Garin2 T A 12: 78,759,028 (GRCm39) V116E possibly damaging Het
Gm19410 T A 8: 36,269,386 (GRCm39) C1074S probably damaging Het
Gtf3c3 T G 1: 54,477,997 (GRCm39) E26A possibly damaging Het
Hps5 T C 7: 46,424,331 (GRCm39) E514G probably damaging Het
Ide A T 19: 37,302,647 (GRCm39) D154E Het
Insm1 T C 2: 146,065,273 (GRCm39) V363A probably benign Het
Iqgap2 A T 13: 95,886,523 (GRCm39) M120K probably damaging Het
Kcnh5 T A 12: 75,023,488 (GRCm39) I527F probably benign Het
Lrtm2 A G 6: 119,297,792 (GRCm39) L83P probably damaging Het
Map1a A G 2: 121,131,014 (GRCm39) E372G probably damaging Het
Mycbp2 A T 14: 103,425,960 (GRCm39) H2421Q probably damaging Het
Myh15 A G 16: 48,997,375 (GRCm39) E1731G probably damaging Het
Myt1 A T 2: 181,437,667 (GRCm39) H168L probably benign Het
Nxph4 A T 10: 127,362,546 (GRCm39) V115E probably damaging Het
Ofcc1 A T 13: 40,433,802 (GRCm39) I101N possibly damaging Het
Oog2 T C 4: 143,923,015 (GRCm39) F427L probably benign Het
Or4c115 A G 2: 88,928,076 (GRCm39) L65P probably damaging Het
Or4f14b A T 2: 111,774,967 (GRCm39) I278N possibly damaging Het
Or5w11 A G 2: 87,459,209 (GRCm39) N18S probably benign Het
Or8b48 T C 9: 38,493,334 (GRCm39) S254P probably damaging Het
Or8g27 A G 9: 39,129,531 (GRCm39) R293G probably damaging Het
Otop1 T G 5: 38,455,302 (GRCm39) I232S probably benign Het
Pak6 G A 2: 118,523,883 (GRCm39) R346Q probably damaging Het
Pbk A T 14: 66,054,713 (GRCm39) M282L probably benign Het
Pmpcb T C 5: 21,944,009 (GRCm39) probably null Het
Pou5f2 T A 13: 78,173,585 (GRCm39) W176R probably damaging Het
Prkra G T 2: 76,478,147 (GRCm39) S18R probably benign Het
Prune2 G T 19: 17,145,691 (GRCm39) A2764S probably benign Het
Ptpdc1 A T 13: 48,740,221 (GRCm39) D403E probably benign Het
Pxylp1 T C 9: 96,722,089 (GRCm39) E54G probably damaging Het
Rap1gap G A 4: 137,446,222 (GRCm39) A325T probably damaging Het
Raver2 G A 4: 100,977,387 (GRCm39) probably benign Het
Rbpj T C 5: 53,810,745 (GRCm39) V455A probably damaging Het
Rptor A T 11: 119,702,823 (GRCm39) I397F probably benign Het
Sacs G A 14: 61,421,499 (GRCm39) M148I probably benign Het
Sec16b A G 1: 157,373,816 (GRCm39) Q496R probably damaging Het
Sned1 C A 1: 93,199,385 (GRCm39) C488* probably null Het
Snupn G T 9: 56,882,547 (GRCm39) V187F possibly damaging Het
Sorcs2 T C 5: 36,183,225 (GRCm39) D1016G probably damaging Het
Spta1 T C 1: 174,045,204 (GRCm39) M1517T possibly damaging Het
Them4 G T 3: 94,231,630 (GRCm39) G156C probably damaging Het
Tnik T C 3: 28,675,124 (GRCm39) S721P probably benign Het
Trpm8 T C 1: 88,246,767 (GRCm39) S26P probably damaging Het
Uhrf2 A G 19: 30,055,416 (GRCm39) Y389C probably damaging Het
Utp4 T A 8: 107,642,828 (GRCm39) D495E possibly damaging Het
Vill C A 9: 118,890,562 (GRCm39) N158K probably benign Het
Vmn1r219 G A 13: 23,347,399 (GRCm39) G196E probably damaging Het
Vmn2r101 C T 17: 19,811,395 (GRCm39) S493L probably benign Het
Vmn2r61 A G 7: 41,915,385 (GRCm39) T111A probably benign Het
Zbtb40 G T 4: 136,745,529 (GRCm39) A168E probably benign Het
Zscan18 A T 7: 12,508,054 (GRCm39) I482N probably 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
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
R9329:Ube2e3 UTSW 2 78,744,035 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- CCTGGCTTTGGATAGAGCTAG -3'
(R):5'- AGTCTCCCAGTCTCCAAAGG -3'

Sequencing Primer
(F):5'- GCTTTGGATAGAGCTAGAAGTAAAC -3'
(R):5'- GTCTCCCAGTCTCCAAAGGATAAAG -3'
Posted On 2022-03-25