Incidental Mutation 'R4159:Ube2d2a'
ID 315681
Institutional Source Beutler Lab
Gene Symbol Ube2d2a
Ensembl Gene ENSMUSG00000091896
Gene Name ubiquitin-conjugating enzyme E2D 2A
Synonyms ubc4, 1500034D03Rik
MMRRC Submission 041002-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R4159 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 35904612-35940225 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 35903577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167406] [ENSMUST00000170693]
AlphaFold P62838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165299
SMART Domains Protein: ENSMUSP00000130279
Gene: ENSMUSG00000091842

DomainStartEndE-ValueType
Pfam:Ribosomal_S25 12 105 1.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167406
SMART Domains Protein: ENSMUSP00000131206
Gene: ENSMUSG00000091896

DomainStartEndE-ValueType
UBCc 4 147 3.56e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170693
SMART Domains Protein: ENSMUSP00000132446
Gene: ENSMUSG00000091896

DomainStartEndE-ValueType
UBCc 4 147 3.56e-74 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 96% (45/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of target proteins and covalent linkage of Ub-containing proteins to form polymeric chains, marking them as targets for 26S proteasome-mediated degradation. Ubiquitination of proteins is mediated by a cascade of enzymes which includes E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligases) enzymes. This gene encodes a member of the E2 enzyme family. Substrates of this enzyme include the tumor suppressor protein p53 and peroxisomal biogenesis factor 5 (PEX5). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous null mice display a delay in testis maturation but have normal spermatogenesis, sperm motility, and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T G 12: 81,466,806 (GRCm39) D605A probably damaging Het
Adcy1 A G 11: 7,013,889 (GRCm39) H97R probably damaging Het
Amdhd1 A G 10: 93,370,512 (GRCm39) Y109H probably damaging Het
Ankhd1 A G 18: 36,722,593 (GRCm39) N372S possibly damaging Het
Aoc2 G A 11: 101,216,122 (GRCm39) M68I probably damaging Het
Aspscr1 G A 11: 120,599,502 (GRCm39) A377T probably damaging Het
Bltp1 T A 3: 36,985,232 (GRCm39) M854K probably benign Het
Bltp3a A G 17: 28,103,061 (GRCm39) Y365C probably damaging Het
Cacnb1 G C 11: 97,903,100 (GRCm39) C154W probably damaging Het
Ccdc186 G A 19: 56,781,924 (GRCm39) R27* probably null Het
Clnk C A 5: 38,899,138 (GRCm39) probably benign Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Fut8 T C 12: 77,440,523 (GRCm39) L170P probably damaging Het
G3bp2 T C 5: 92,212,260 (GRCm39) H217R probably benign Het
Gm19345 G A 7: 19,588,886 (GRCm39) probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Met G T 6: 17,562,271 (GRCm39) probably null Het
Mfsd3 T C 15: 76,585,945 (GRCm39) L26P probably damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pde8a A G 7: 80,970,407 (GRCm39) I510V probably benign Het
Pds5a T C 5: 65,821,839 (GRCm39) T120A possibly damaging Het
Phf8-ps G A 17: 33,285,023 (GRCm39) T593I probably benign Het
Phkb T A 8: 86,748,162 (GRCm39) probably null Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Senp7 C A 16: 55,973,832 (GRCm39) P351Q possibly damaging Het
Slc15a5 G T 6: 138,049,938 (GRCm39) T159K possibly damaging Het
Slc39a6 A G 18: 24,730,885 (GRCm39) V362A possibly damaging Het
Spef2 A T 15: 9,676,407 (GRCm39) D721E probably damaging Het
Sting1 A T 18: 35,872,272 (GRCm39) Y77N probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tnxb A G 17: 34,930,491 (GRCm39) T2059A probably damaging Het
Ttll8 T C 15: 88,801,444 (GRCm39) N415D probably benign Het
Unc79 A G 12: 103,036,512 (GRCm39) probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vmn2r102 T A 17: 19,898,088 (GRCm39) C368S probably damaging Het
Vmn2r3 G A 3: 64,194,850 (GRCm39) Q23* probably null Het
Other mutations in Ube2d2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0281:Ube2d2a UTSW 18 35,933,185 (GRCm39) missense probably damaging 1.00
R0593:Ube2d2a UTSW 18 35,903,438 (GRCm39) unclassified probably benign
R2974:Ube2d2a UTSW 18 35,933,225 (GRCm39) missense possibly damaging 0.46
R4774:Ube2d2a UTSW 18 35,903,498 (GRCm39) unclassified probably benign
R5571:Ube2d2a UTSW 18 35,903,531 (GRCm39) unclassified probably benign
R5857:Ube2d2a UTSW 18 35,938,596 (GRCm39) missense probably benign 0.03
R9087:Ube2d2a UTSW 18 35,933,197 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TTAGTGAAGCTGCAGTGGTCC -3'
(R):5'- CAAATGCACAGCTGATTGAACC -3'

Sequencing Primer
(F):5'- TGAGTTTCGCCATGCCG -3'
(R):5'- ATGCACAGCTGATTGAACCTGTTC -3'
Posted On 2015-05-14