Incidental Mutation 'R4177:Ube2d1'
ID 319565
Institutional Source Beutler Lab
Gene Symbol Ube2d1
Ensembl Gene ENSMUSG00000019927
Gene Name ubiquitin-conjugating enzyme E2D 1
Synonyms UBCH5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4177 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 71090810-71121092 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71094033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 101 (K101R)
Ref Sequence ENSEMBL: ENSMUSP00000020085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020085]
AlphaFold P61080
Predicted Effect probably damaging
Transcript: ENSMUST00000020085
AA Change: K101R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020085
Gene: ENSMUSG00000019927
AA Change: K101R

DomainStartEndE-ValueType
UBCc 4 147 3.67e-76 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144636
Meta Mutation Damage Score 0.5254 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (46/46)
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. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aicda A T 6: 122,538,043 (GRCm39) D67V probably benign Het
Arhgap32 A G 9: 32,158,510 (GRCm39) R182G probably null Het
Bbx T C 16: 50,045,221 (GRCm39) K447E probably damaging Het
Bscl2 A G 19: 8,817,120 (GRCm39) D16G possibly damaging Het
Celsr2 A G 3: 108,321,294 (GRCm39) V506A probably damaging Het
Cenpf T A 1: 189,400,816 (GRCm39) Q441L possibly damaging Het
Crebbp A T 16: 3,937,663 (GRCm39) M700K possibly damaging Het
Dhcr7 A G 7: 143,394,910 (GRCm39) Y142C probably damaging Het
Dnajc2 A G 5: 21,962,394 (GRCm39) M602T probably benign Het
Dysf C T 6: 84,044,013 (GRCm39) R254* probably null Het
Ednra A C 8: 78,401,677 (GRCm39) I204M possibly damaging Het
Fabp2 A G 3: 122,690,547 (GRCm39) T77A possibly damaging Het
Gm10322 C A 10: 59,452,052 (GRCm39) N56K probably benign Het
Gnb1 T C 4: 155,625,113 (GRCm39) probably benign Het
Gpc2 T C 5: 138,275,621 (GRCm39) probably benign Het
Kmt2a T C 9: 44,732,280 (GRCm39) probably benign Het
Lypla2 T C 4: 135,696,403 (GRCm39) probably benign Het
Maf A T 8: 116,433,210 (GRCm39) Y131* probably null Het
Mfsd4a T A 1: 131,968,295 (GRCm39) H335L probably damaging Het
Mrgpra9 A G 7: 46,885,302 (GRCm39) Y122H probably damaging Het
Myo10 A T 15: 25,734,137 (GRCm39) Q342L possibly damaging Het
N4bp2 A G 5: 65,955,513 (GRCm39) probably null Het
Or5t15 A T 2: 86,681,745 (GRCm39) M99K possibly damaging Het
Pomt1 A G 2: 32,138,689 (GRCm39) N435S probably damaging Het
Pram1 A G 17: 33,860,203 (GRCm39) I257V probably benign Het
Rab9 G T X: 165,241,296 (GRCm39) S5* probably null Het
Ralgapa2 A T 2: 146,327,083 (GRCm39) Y59N probably damaging Het
Rasgrf2 C T 13: 92,038,717 (GRCm39) G1043D probably damaging Het
Rps6kc1 G A 1: 190,532,616 (GRCm39) T462M possibly damaging Het
Selenoo C T 15: 88,983,662 (GRCm39) probably benign Het
Sptb G C 12: 76,659,953 (GRCm39) D982E probably benign Het
Tab2 A G 10: 7,795,123 (GRCm39) V453A probably damaging Het
Ubald1 A G 16: 4,693,745 (GRCm39) probably benign Het
Unc5cl A G 17: 48,769,298 (GRCm39) T261A probably benign Het
Zcwpw1 G T 5: 137,798,395 (GRCm39) K197N probably damaging Het
Zfp268 T C 4: 145,347,225 (GRCm39) L43S probably damaging Het
Zfyve19 A G 2: 119,046,693 (GRCm39) T296A possibly damaging Het
Other mutations in Ube2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Ube2d1 APN 10 71,091,656 (GRCm39) utr 3 prime probably benign
IGL01695:Ube2d1 APN 10 71,098,082 (GRCm39) missense probably damaging 0.99
R0669:Ube2d1 UTSW 10 71,097,940 (GRCm39) missense probably benign 0.00
R1616:Ube2d1 UTSW 10 71,092,523 (GRCm39) missense probably damaging 1.00
R1954:Ube2d1 UTSW 10 71,120,953 (GRCm39) start codon destroyed probably null 0.94
R5440:Ube2d1 UTSW 10 71,091,682 (GRCm39) missense probably damaging 0.98
R5889:Ube2d1 UTSW 10 71,095,699 (GRCm39) intron probably benign
R6562:Ube2d1 UTSW 10 71,098,071 (GRCm39) missense probably benign 0.27
R6644:Ube2d1 UTSW 10 71,092,530 (GRCm39) missense possibly damaging 0.78
R7227:Ube2d1 UTSW 10 71,091,702 (GRCm39) missense possibly damaging 0.54
R8707:Ube2d1 UTSW 10 71,092,478 (GRCm39) missense probably benign 0.17
R9237:Ube2d1 UTSW 10 71,097,925 (GRCm39) missense probably damaging 1.00
R9505:Ube2d1 UTSW 10 71,098,094 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AACCAGCGTGACTAAAGAGTTC -3'
(R):5'- GCGCGTATACAAGTCTGCTC -3'

Sequencing Primer
(F):5'- ACACAGCAGGTTGAGGTA -3'
(R):5'- GTGTAAAGATGAGCGCCTTTTACCC -3'
Posted On 2015-06-10