Incidental Mutation 'R5857:Ube2d2a'
ID 454984
Institutional Source Beutler Lab
Gene Symbol Ube2d2a
Ensembl Gene ENSMUSG00000091896
Gene Name ubiquitin-conjugating enzyme E2D 2A
Synonyms ubc4, 1500034D03Rik
MMRRC Submission 044069-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R5857 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 35904612-35940225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35938596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 142 (T142A)
Ref Sequence ENSEMBL: ENSMUSP00000132446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167406] [ENSMUST00000170693]
AlphaFold P62838
Predicted Effect probably benign
Transcript: ENSMUST00000167406
AA Change: T142A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000131206
Gene: ENSMUSG00000091896
AA Change: T142A

DomainStartEndE-ValueType
UBCc 4 147 3.56e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170693
AA Change: T142A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000132446
Gene: ENSMUSG00000091896
AA Change: T142A

DomainStartEndE-ValueType
UBCc 4 147 3.56e-74 SMART
Meta Mutation Damage Score 0.5348 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 95% (55/58)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,203,369 (GRCm39) I266V probably benign Het
Anks6 C T 4: 47,039,736 (GRCm39) A492T possibly damaging Het
Ano1 A T 7: 144,190,840 (GRCm39) C415S probably benign Het
Anxa3 T A 5: 96,976,651 (GRCm39) probably null Het
Apob T C 12: 8,065,397 (GRCm39) V4089A probably benign Het
Arhgap23 C T 11: 97,342,405 (GRCm39) A229V possibly damaging Het
Atad5 T C 11: 80,022,155 (GRCm39) F1447L probably benign Het
Btbd8 T A 5: 107,609,398 (GRCm39) D212E probably damaging Het
Ccdc38 G T 10: 93,398,695 (GRCm39) A58S possibly damaging Het
Cep112 T C 11: 108,422,297 (GRCm39) probably benign Het
Col4a2 G A 8: 11,475,442 (GRCm39) G622D probably damaging Het
Crhbp T A 13: 95,578,740 (GRCm39) Q134L probably benign Het
Ctnnbl1 T C 2: 157,631,018 (GRCm39) S145P probably damaging Het
Cyp4f16 T A 17: 32,755,998 (GRCm39) L9Q probably damaging Het
Dchs2 T G 3: 83,177,620 (GRCm39) I891S possibly damaging Het
Disp3 A T 4: 148,333,640 (GRCm39) V1066D probably benign Het
Dlgap1 A G 17: 71,122,388 (GRCm39) probably benign Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Efl1 T A 7: 82,412,397 (GRCm39) C929S probably benign Het
Gatb T C 3: 85,483,239 (GRCm39) F82S probably damaging Het
Gk5 C A 9: 96,001,508 (GRCm39) S2* probably null Het
Gpr135 G A 12: 72,117,614 (GRCm39) A51V probably benign Het
Hoxa9 T A 6: 52,201,277 (GRCm39) N255Y probably damaging Het
Igkv8-18 T C 6: 70,332,904 (GRCm39) V15A probably benign Het
Ism2 T C 12: 87,326,835 (GRCm39) D368G probably damaging Het
Krtap6-2 A T 16: 89,216,530 (GRCm39) S146T unknown Het
Lama1 T A 17: 68,114,838 (GRCm39) L2329H probably damaging Het
Llgl2 T A 11: 115,741,107 (GRCm39) I507N probably damaging Het
Lmna GCTGCCCACAC GC 3: 88,389,838 (GRCm39) probably benign Het
Lrfn3 A T 7: 30,058,863 (GRCm39) I454N possibly damaging Het
Mdn1 C A 4: 32,670,646 (GRCm39) T437K probably benign Het
Nat8f3 T C 6: 85,738,735 (GRCm39) Y9C probably damaging Het
Niban2 T A 2: 32,799,920 (GRCm39) N82K probably benign Het
Nlrp4d C A 7: 10,116,304 (GRCm39) G156V noncoding transcript Het
Npnt A T 3: 132,614,110 (GRCm39) C167S probably damaging Het
Nr3c2 A G 8: 77,635,496 (GRCm39) N199S possibly damaging Het
Or10x4 T G 1: 174,218,674 (GRCm39) I13R possibly damaging Het
Or8b12i C T 9: 20,082,535 (GRCm39) D111N probably damaging Het
Or8b37 T G 9: 37,959,049 (GRCm39) V177G probably benign Het
Pabpc1l T A 2: 163,886,175 (GRCm39) probably null Het
Pi4ka A G 16: 17,176,848 (GRCm39) I366T probably benign Het
Prl7a1 A T 13: 27,824,684 (GRCm39) D50E probably damaging Het
Rad52 T G 6: 119,887,968 (GRCm39) probably null Het
Rbm19 T A 5: 120,271,007 (GRCm39) L610Q probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Scube1 G T 15: 83,491,461 (GRCm39) probably benign Het
Sptbn4 G T 7: 27,118,138 (GRCm39) R314S possibly damaging Het
Togaram1 T A 12: 65,042,331 (GRCm39) I1130K possibly damaging Het
Tsc2 T C 17: 24,818,981 (GRCm39) E1352G probably damaging Het
Vps18 T C 2: 119,128,014 (GRCm39) Y946H probably damaging 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
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
R9087:Ube2d2a UTSW 18 35,933,197 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GCGGGTGTGTGAAGAAAATT -3'
(R):5'- CTGCTAGGAGGCAATGTTGGTA -3'

Sequencing Primer
(F):5'- TAGAGGGAGAAAGTTGATTTTGTTTG -3'
(R):5'- GTTGTTCCAAGTATGTACAACACGC -3'
Posted On 2017-02-10