Incidental Mutation 'R1281:Ube2n'
ID 151029
Institutional Source Beutler Lab
Gene Symbol Ube2n
Ensembl Gene ENSMUSG00000074781
Gene Name ubiquitin-conjugating enzyme E2N
Synonyms UBC13
MMRRC Submission 039347-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1281 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 95351024-95381520 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 95377618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 132 (N132K)
Ref Sequence ENSEMBL: ENSMUSP00000096932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099329] [ENSMUST00000220127]
AlphaFold P61089
Predicted Effect probably benign
Transcript: ENSMUST00000099329
AA Change: N132K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000096932
Gene: ENSMUSG00000074781
AA Change: N132K

DomainStartEndE-ValueType
UBCc 6 149 3.13e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219741
Predicted Effect probably benign
Transcript: ENSMUST00000220127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220428
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency
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. Studies in mouse suggest that this protein plays a role in DNA postreplication repair. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene causes early embryonic lethality. Mice heterozygous for a gene trap allele show increased resistance to LPS-induced lethality while cultured immune cells display blunted LPS-inducible cytokine secretion and impaired activation of TRAF-mediated signal transduction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A T 1: 173,287,377 (GRCm39) K126* probably null Het
C9 A T 15: 6,519,321 (GRCm39) N386I possibly damaging Het
Csnk1e A C 15: 79,304,841 (GRCm39) N387K possibly damaging Het
Cul9 T C 17: 46,822,460 (GRCm39) T1758A probably damaging Het
Dcaf17 A G 2: 70,908,500 (GRCm39) I256V probably damaging Het
Duox1 G A 2: 122,157,569 (GRCm39) C565Y probably damaging Het
Fchsd2 A G 7: 100,902,759 (GRCm39) H379R possibly damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Krt1c C A 15: 101,721,727 (GRCm39) C438F probably damaging Het
Mast4 G A 13: 102,887,086 (GRCm39) T1001I probably damaging Het
Mrc1 T C 2: 14,298,321 (GRCm39) F726L probably damaging Het
Mroh2a T TN 1: 88,183,889 (GRCm39) probably null Het
Mttp T C 3: 137,812,980 (GRCm39) N550S possibly damaging Het
Necap1 G T 6: 122,851,573 (GRCm39) D16Y possibly damaging Het
Nox3 A T 17: 3,746,460 (GRCm39) I26N probably damaging Het
Patj T C 4: 98,304,932 (GRCm39) I262T probably damaging Het
Pcdh8 T C 14: 80,005,166 (GRCm39) E953G probably damaging Het
Pirb A T 7: 3,720,189 (GRCm39) C395S probably damaging Het
Sacs A G 14: 61,429,250 (GRCm39) I433M probably benign Het
Sclt1 A G 3: 41,602,055 (GRCm39) F552L probably benign Het
Smc5 T C 19: 23,213,247 (GRCm39) N479S probably benign Het
Tg G A 15: 66,568,338 (GRCm39) V1342I probably benign Het
Vmn2r55 A T 7: 12,404,825 (GRCm39) C193S probably benign Het
Zc3hav1 A G 6: 38,330,872 (GRCm39) C96R probably damaging Het
Zfp60 T A 7: 27,437,852 (GRCm39) V53E probably damaging Het
Other mutations in Ube2n
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03201:Ube2n APN 10 95,378,127 (GRCm39) splice site probably benign
R0496:Ube2n UTSW 10 95,377,206 (GRCm39) missense probably benign 0.20
R2054:Ube2n UTSW 10 95,377,128 (GRCm39) missense probably damaging 0.96
R4914:Ube2n UTSW 10 95,377,607 (GRCm39) missense possibly damaging 0.64
R7289:Ube2n UTSW 10 95,377,612 (GRCm39) missense probably benign 0.20
R8031:Ube2n UTSW 10 95,377,244 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- CTCACTGTATGCTAACAGCCCCAG -3'
(R):5'- CCTAGTCCATGCTCTCGCTGTAGAC -3'

Sequencing Primer
(F):5'- TAACAGCCCCAGAGTGTGTG -3'
(R):5'- GGATCAGACCAGTTTTCTGAATACC -3'
Posted On 2014-01-29