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
Chromosome 10
Chromosomal Location 71254980-71285262 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71262252 bp (GRCm38)
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

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
2610507B11Rik T C 11: 78,265,193 V177A probably benign Het
Ap3b2 T A 7: 81,476,939 probably benign Het
Arfgef3 T C 10: 18,603,419 T1483A probably benign Het
Arl5a A T 2: 52,412,105 I99N probably damaging Het
Bahcc1 G A 11: 120,276,609 G1279R probably benign Het
Bbs5 A G 2: 69,649,090 N43S probably damaging Het
Cdh23 C T 10: 60,331,833 V1795M probably benign Het
Cep350 T C 1: 155,944,158 E353G probably damaging Het
Cps1 A T 1: 67,197,035 I976L probably benign Het
Ctdp1 A T 18: 80,449,626 S551R probably damaging Het
Cyp2b19 C T 7: 26,759,064 T68I probably damaging Het
Esr2 A G 12: 76,145,319 S312P probably damaging Het
Fam26e A G 10: 34,092,202 V285A possibly damaging Het
Gm11639 A T 11: 104,736,063 E864D probably damaging Het
Gm6408 A G 5: 146,482,129 probably benign Het
Krt9 A T 11: 100,191,437 probably null Het
Myh6 T C 14: 54,957,413 T662A probably benign Het
Ntn1 T C 11: 68,226,604 D473G probably benign Het
Olfr576 T C 7: 102,965,583 F161S probably damaging Het
Piezo1 A T 8: 122,495,509 C961S possibly damaging Het
Pik3c2a T C 7: 116,417,518 T335A possibly damaging Het
Plaa A T 4: 94,574,037 Y140* probably null Het
Plxnb2 T C 15: 89,157,214 I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 N555K probably damaging Het
Ptprn2 T A 12: 116,841,388 H174Q probably benign Het
Reln G A 5: 21,920,438 T2749M probably damaging Het
Scarf1 A G 11: 75,521,957 N384S probably damaging Het
Scrt1 T A 15: 76,518,950 H280L unknown Het
Serpina1f C A 12: 103,693,684 C113F probably damaging Het
Setdb2 A T 14: 59,402,293 probably benign Het
Strc A G 2: 121,375,298 L830P probably damaging Het
Tifab T C 13: 56,176,385 S82G probably benign Het
Tmem217 T A 17: 29,526,348 H136L probably damaging Het
Trio T C 15: 27,773,001 E715G probably damaging Het
Ttn A T 2: 76,944,016 M2182K probably damaging Het
Utrn T C 10: 12,745,342 D195G probably benign Het
Other mutations in Ube2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Ube2d1 APN 10 71255826 utr 3 prime probably benign
R0669:Ube2d1 UTSW 10 71262110 missense probably benign 0.00
R1616:Ube2d1 UTSW 10 71256693 missense probably damaging 1.00
R1954:Ube2d1 UTSW 10 71285123 start codon destroyed probably null 0.94
R4177:Ube2d1 UTSW 10 71258203 missense probably damaging 0.98
R5440:Ube2d1 UTSW 10 71255852 missense probably damaging 0.98
R5889:Ube2d1 UTSW 10 71259869 intron probably benign
R6562:Ube2d1 UTSW 10 71262241 missense probably benign 0.27
R6644:Ube2d1 UTSW 10 71256700 missense possibly damaging 0.78
R7227:Ube2d1 UTSW 10 71255872 missense possibly damaging 0.54
R8707:Ube2d1 UTSW 10 71256648 missense probably benign 0.17
R9237:Ube2d1 UTSW 10 71262095 missense probably damaging 1.00
R9505:Ube2d1 UTSW 10 71262264 critical splice acceptor site probably null
Posted On 2014-01-21