Incidental Mutation 'IGL01695:Ube2d1'
ID 104249
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01695
Quality Score
Status
Chromosome 10
Chromosomal Location 71090810-71121092 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71098082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 12 (D12G)
Ref Sequence ENSEMBL: ENSMUSP00000020085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020085]
AlphaFold P61080
Predicted Effect probably damaging
Transcript: ENSMUST00000020085
AA Change: D12G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020085
Gene: ENSMUSG00000019927
AA Change: D12G

DomainStartEndE-ValueType
UBCc 4 147 3.67e-76 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144231
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b2 T A 7: 81,126,687 (GRCm39) probably benign Het
Arfgef3 T C 10: 18,479,167 (GRCm39) T1483A probably benign Het
Arl5a A T 2: 52,302,117 (GRCm39) I99N probably damaging Het
Bahcc1 G A 11: 120,167,435 (GRCm39) G1279R probably benign Het
Bbs5 A G 2: 69,479,434 (GRCm39) N43S probably damaging Het
Bltp2 T C 11: 78,156,019 (GRCm39) V177A probably benign Het
Calhm5 A G 10: 33,968,198 (GRCm39) V285A possibly damaging Het
Cdh23 C T 10: 60,167,612 (GRCm39) V1795M probably benign Het
Cep350 T C 1: 155,819,904 (GRCm39) E353G probably damaging Het
Cps1 A T 1: 67,236,194 (GRCm39) I976L probably benign Het
Ctdp1 A T 18: 80,492,841 (GRCm39) S551R probably damaging Het
Cyp2b19 C T 7: 26,458,489 (GRCm39) T68I probably damaging Het
Efcab3 A T 11: 104,626,889 (GRCm39) E864D probably damaging Het
Esr2 A G 12: 76,192,093 (GRCm39) S312P probably damaging Het
Gm6408 A G 5: 146,418,939 (GRCm39) probably benign Het
Krt9 A T 11: 100,082,263 (GRCm39) probably null Het
Myh6 T C 14: 55,194,870 (GRCm39) T662A probably benign Het
Ntn1 T C 11: 68,117,430 (GRCm39) D473G probably benign Het
Or51a7 T C 7: 102,614,790 (GRCm39) F161S probably damaging Het
Piezo1 A T 8: 123,222,248 (GRCm39) C961S possibly damaging Het
Pik3c2a T C 7: 116,016,753 (GRCm39) T335A possibly damaging Het
Plaa A T 4: 94,462,274 (GRCm39) Y140* probably null Het
Plxnb2 T C 15: 89,041,417 (GRCm39) I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 (GRCm39) N555K probably damaging Het
Ptprn2 T A 12: 116,805,008 (GRCm39) H174Q probably benign Het
Reln G A 5: 22,125,436 (GRCm39) T2749M probably damaging Het
Scarf1 A G 11: 75,412,783 (GRCm39) N384S probably damaging Het
Scrt1 T A 15: 76,403,150 (GRCm39) H280L unknown Het
Serpina1f C A 12: 103,659,943 (GRCm39) C113F probably damaging Het
Setdb2 A T 14: 59,639,742 (GRCm39) probably benign Het
Strc A G 2: 121,205,779 (GRCm39) L830P probably damaging Het
Tifab T C 13: 56,324,198 (GRCm39) S82G probably benign Het
Tmem217 T A 17: 29,745,322 (GRCm39) H136L probably damaging Het
Trio T C 15: 27,773,087 (GRCm39) E715G probably damaging Het
Ttn A T 2: 76,774,360 (GRCm39) M2182K probably damaging Het
Utrn T C 10: 12,621,086 (GRCm39) D195G probably benign Het
Other mutations in Ube2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Ube2d1 APN 10 71,091,656 (GRCm39) utr 3 prime probably benign
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
R4177:Ube2d1 UTSW 10 71,094,033 (GRCm39) missense probably damaging 0.98
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
Posted On 2014-01-21