Incidental Mutation 'R0593:Ube2d2a'
ID 56070
Institutional Source Beutler Lab
Gene Symbol Ube2d2a
Ensembl Gene ENSMUSG00000091896
Gene Name ubiquitin-conjugating enzyme E2D 2A
Synonyms ubc4, 1500034D03Rik
MMRRC Submission 038783-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R0593 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 35904612-35940225 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to G at 35903438 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 100% (39/39)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,958,925 (GRCm39) D733G probably damaging Het
Acmsd T C 1: 127,666,340 (GRCm39) probably benign Het
Adam34 T C 8: 44,104,724 (GRCm39) Y307C possibly damaging Het
Alox12e A G 11: 70,211,723 (GRCm39) probably benign Het
Ankrd50 C A 3: 38,537,156 (GRCm39) G29* probably null Het
Arhgap17 T C 7: 122,885,966 (GRCm39) probably benign Het
Asah1 A G 8: 41,802,619 (GRCm39) M141T probably benign Het
Atg2a GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC 19: 6,295,037 (GRCm39) probably benign Het
Bsn A T 9: 107,987,505 (GRCm39) I2749N unknown Het
Cds2 G A 2: 132,139,296 (GRCm39) probably benign Het
Ckmt2 A G 13: 92,001,757 (GRCm39) V384A probably damaging Het
Clock A G 5: 76,413,683 (GRCm39) S71P probably benign Het
Cops6 A G 5: 138,161,842 (GRCm39) T96A probably benign Het
Csnka2ip A T 16: 64,298,975 (GRCm39) V19D probably damaging Het
Dcaf17 T A 2: 70,917,744 (GRCm39) probably null Het
Dscam T C 16: 96,573,608 (GRCm39) K785E probably benign Het
Eif2d T A 1: 131,083,465 (GRCm39) probably benign Het
Gal3st2b T C 1: 93,868,549 (GRCm39) V258A probably benign Het
Gucy2c T C 6: 136,705,333 (GRCm39) N534S probably damaging Het
Hook1 C T 4: 95,887,023 (GRCm39) T210I possibly damaging Het
Ifi203 T C 1: 173,756,215 (GRCm39) probably benign Het
Irf7 T C 7: 140,844,975 (GRCm39) probably benign Het
Lrp2 C T 2: 69,297,350 (GRCm39) V3204I probably benign Het
Mtx2 A G 2: 74,699,780 (GRCm39) probably benign Het
Nelfcd G T 2: 174,265,223 (GRCm39) V248L probably benign Het
Oosp1 T C 19: 11,645,776 (GRCm39) S121G probably benign Het
Or10am5 T A 7: 6,517,808 (GRCm39) N207Y probably benign Het
Sec16b G C 1: 157,359,718 (GRCm39) G164R probably benign Het
Slc22a14 T A 9: 118,998,919 (GRCm39) D561V probably benign Het
Tet2 G A 3: 133,193,870 (GRCm39) T188I probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Trp53bp1 A G 2: 121,101,009 (GRCm39) V63A possibly damaging Het
Vmn1r113 T A 7: 20,521,388 (GRCm39) V60E probably damaging Het
Other mutations in Ube2d2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0281:Ube2d2a UTSW 18 35,933,185 (GRCm39) missense probably damaging 1.00
R2974:Ube2d2a UTSW 18 35,933,225 (GRCm39) missense possibly damaging 0.46
R4159:Ube2d2a UTSW 18 35,903,577 (GRCm39) unclassified probably benign
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'- ACAGCTCTTTAAATGTTCCCCAAGTGG -3'
(R):5'- GTGCTTTGAAACCAGCTTGATAAGTCC -3'

Sequencing Primer
(F):5'- ccatcacccacagagcc -3'
(R):5'- GAAACCAGCTTGATAAGTCCTTTAC -3'
Posted On 2013-07-11