Incidental Mutation 'R5571:Ube2d2a'
ID 435695
Institutional Source Beutler Lab
Gene Symbol Ube2d2a
Ensembl Gene ENSMUSG00000091896
Gene Name ubiquitin-conjugating enzyme E2D 2A
Synonyms ubc4, 1500034D03Rik
MMRRC Submission 044395-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R5571 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 35904612-35940225 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 35903531 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: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A T 3: 59,784,640 (GRCm39) H371L probably damaging Het
Atad5 T C 11: 80,002,382 (GRCm39) V1058A probably benign Het
Baiap2l2 T C 15: 79,155,783 (GRCm39) H97R probably damaging Het
Bax A G 7: 45,111,315 (GRCm39) S184P probably damaging Het
Bsph1 T G 7: 13,184,840 (GRCm39) M1R probably null Het
Cbln2 A G 18: 86,731,273 (GRCm39) D27G probably benign Het
Cntnap3 G A 13: 65,051,572 (GRCm39) A28V probably damaging Het
Col6a3 C A 1: 90,715,938 (GRCm39) R1641L unknown Het
Dhrs3 T G 4: 144,620,134 (GRCm39) I17S probably benign Het
Ep300 T C 15: 81,527,418 (GRCm39) probably benign Het
Epb41 T C 4: 131,664,717 (GRCm39) probably benign Het
Fat4 A T 3: 39,064,423 (GRCm39) E4793V probably damaging Het
Fbxw22 T G 9: 109,232,156 (GRCm39) K80N probably damaging Het
Fbxw24 T C 9: 109,436,066 (GRCm39) E322G probably benign Het
Fcgbpl1 A G 7: 27,855,994 (GRCm39) D1927G probably damaging Het
Fndc7 T C 3: 108,763,724 (GRCm39) I639V possibly damaging Het
Folh1 T C 7: 86,383,328 (GRCm39) Y473C probably damaging Het
Foxb2 T A 19: 16,850,131 (GRCm39) M292L probably benign Het
Gapvd1 A G 2: 34,605,265 (GRCm39) S41P probably damaging Het
Gmds A T 13: 32,101,704 (GRCm39) probably null Het
Gp6 G T 7: 4,371,899 (GRCm39) A302D probably damaging Het
Hmgcr A T 13: 96,803,171 (GRCm39) M8K probably benign Het
Itpripl2 C T 7: 118,089,092 (GRCm39) R489Q probably damaging Het
Kmo T C 1: 175,474,760 (GRCm39) V175A possibly damaging Het
Lce1i C T 3: 92,684,988 (GRCm39) G63S unknown Het
Lrp1b T C 2: 41,298,354 (GRCm39) Q155R probably damaging Het
Mdm1 T C 10: 117,995,588 (GRCm39) S541P possibly damaging Het
Neto2 C T 8: 86,367,173 (GRCm39) D524N probably damaging Het
Oga T C 19: 45,765,445 (GRCm39) T121A probably benign Het
Or1j10 A G 2: 36,267,129 (GRCm39) T114A probably benign Het
Or2ak6 T A 11: 58,592,877 (GRCm39) F117I probably damaging Het
Or5bw2 T C 7: 6,573,824 (GRCm39) I278T possibly damaging Het
Or5h17 A T 16: 58,820,569 (GRCm39) I174L probably benign Het
Ppp4r1 C T 17: 66,110,856 (GRCm39) Q21* probably null Het
Ryr2 T A 13: 11,570,334 (GRCm39) T4930S possibly damaging Het
Scart2 T A 7: 139,829,036 (GRCm39) C232S probably damaging Het
Siae G A 9: 37,528,219 (GRCm39) G64D probably benign Het
Slc14a2 T C 18: 78,252,282 (GRCm39) M10V possibly damaging Het
Ssrp1 C G 2: 84,874,669 (GRCm39) D496E probably damaging Het
Steap2 A G 5: 5,725,912 (GRCm39) S371P probably damaging Het
Taf6l G A 19: 8,761,294 (GRCm39) R24W probably damaging Het
Tbkbp1 T C 11: 97,039,555 (GRCm39) Q118R probably damaging Het
Tln2 C T 9: 67,241,602 (GRCm39) G1001E possibly damaging Het
Tm2d3 A G 7: 65,348,872 (GRCm39) N184D probably damaging Het
Tmprss2 A T 16: 97,392,071 (GRCm39) W131R probably null Het
Unc13d A G 11: 115,954,480 (GRCm39) Y1043H probably benign Het
Usp34 T A 11: 23,407,975 (GRCm39) I2600K probably damaging Het
Vmn1r198 A G 13: 22,539,168 (GRCm39) Y218C probably damaging Het
Vmn2r8 T C 5: 108,950,106 (GRCm39) Y247C probably damaging Het
Wdr59 A T 8: 112,192,463 (GRCm39) N699K probably damaging Het
Zcchc2 T C 1: 105,951,402 (GRCm39) V579A probably benign Het
Zfhx3 A T 8: 109,682,623 (GRCm39) Q3354L unknown 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
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'- TTAGTGAAGCTGCAGTGGTC -3'
(R):5'- AACCTGTTCTTCACCAGCAG -3'

Sequencing Primer
(F):5'- ACACGACTCCCTGAGTTTCG -3'
(R):5'- AGCAGCTGGGGCGTCTC -3'
Posted On 2016-10-24