Incidental Mutation 'IGL02296:Ube2e1'
ID 290182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2e1
Ensembl Gene ENSMUSG00000021774
Gene Name ubiquitin-conjugating enzyme E2E 1
Synonyms UbcM3, ubcM2, Ubce5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02296
Quality Score
Status
Chromosome 14
Chromosomal Location 4137852-4186967 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 18331062 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022296] [ENSMUST00000225612]
AlphaFold P52482
Predicted Effect unknown
Transcript: ENSMUST00000022296
AA Change: S14P
SMART Domains Protein: ENSMUSP00000022296
Gene: ENSMUSG00000021774
AA Change: S14P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
UBCc 50 193 2.41e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162831
Predicted Effect probably benign
Transcript: ENSMUST00000225612
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. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik T A 1: 63,808,344 (GRCm39) R7S unknown Het
Acss3 A T 10: 106,889,312 (GRCm39) Y169* probably null Het
Anln T C 9: 22,283,483 (GRCm39) K450R possibly damaging Het
Armc10 A T 5: 21,865,631 (GRCm39) R225S probably benign Het
Cbfb T A 8: 105,905,312 (GRCm39) Y85N probably damaging Het
Col13a1 G T 10: 61,697,804 (GRCm39) probably benign Het
Dclk2 T C 3: 86,700,600 (GRCm39) I626V probably damaging Het
Epb41 G A 4: 131,731,065 (GRCm39) T172M probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Glyat A T 19: 12,628,625 (GRCm39) D140V probably damaging Het
Hikeshi A T 7: 89,585,130 (GRCm39) F25I probably damaging Het
Ifi204 A G 1: 173,576,880 (GRCm39) Y574H possibly damaging Het
Kcnd3 C T 3: 105,574,317 (GRCm39) R501* probably null Het
Kdm4a T C 4: 118,034,662 (GRCm39) E23G probably damaging Het
Map3k19 C T 1: 127,751,983 (GRCm39) S456N probably damaging Het
Mgat4c A G 10: 102,221,021 (GRCm39) probably benign Het
Nup214 A G 2: 31,878,200 (GRCm39) N289S possibly damaging Het
Obsl1 G T 1: 75,474,793 (GRCm39) A674D possibly damaging Het
Or1e25 A T 11: 73,493,532 (GRCm39) N42I probably damaging Het
Or51i1 A T 7: 103,671,311 (GRCm39) probably null Het
Pak2 T C 16: 31,862,820 (GRCm39) probably null Het
Pde4a A T 9: 21,103,865 (GRCm39) N138I possibly damaging Het
Per1 A G 11: 68,993,001 (GRCm39) D286G probably damaging Het
Pramel23 G A 4: 143,425,051 (GRCm39) Q131* probably null Het
Prdx2 T A 8: 85,700,681 (GRCm39) D188E probably benign Het
Ptgis T C 2: 167,048,657 (GRCm39) K453R probably damaging Het
Radil A G 5: 142,492,218 (GRCm39) V470A probably benign Het
Rgs12 A G 5: 35,123,464 (GRCm39) S416G probably damaging Het
Rnf213 A G 11: 119,354,162 (GRCm39) H4013R probably benign Het
Ttc17 A G 2: 94,208,055 (GRCm39) L185P probably damaging Het
Ttn A G 2: 76,542,768 (GRCm39) I33406T probably damaging Het
Other mutations in Ube2e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Ube2e1 APN 14 18,330,951 (GRCm38) missense probably null 0.54
R2167:Ube2e1 UTSW 14 18,284,429 (GRCm38) splice site probably benign
R4897:Ube2e1 UTSW 14 18,285,268 (GRCm38) missense probably damaging 0.96
R9112:Ube2e1 UTSW 14 18,285,203 (GRCm38) missense probably damaging 0.99
R9350:Ube2e1 UTSW 14 18,284,348 (GRCm38) missense probably damaging 0.96
Posted On 2015-04-16