Incidental Mutation 'R2167:Ube2e1'
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Institutional Source Beutler Lab
Gene Symbol Ube2e1
Ensembl Gene ENSMUSG00000021774
Gene Nameubiquitin-conjugating enzyme E2E 1
SynonymsubcM2, Ubce5, UbcM3
MMRRC Submission 040170-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2167 (G1)
Quality Score225
Status Validated
Chromosomal Location18282722-18331859 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 18284429 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022294] [ENSMUST00000022296] [ENSMUST00000132374] [ENSMUST00000133460] [ENSMUST00000225612]
Predicted Effect probably benign
Transcript: ENSMUST00000022294
SMART Domains Protein: ENSMUSP00000022294
Gene: ENSMUSG00000021772

SCOP:d1i2ma_ 5 39 1e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000022296
SMART Domains Protein: ENSMUSP00000022296
Gene: ENSMUSG00000021774

low complexity region 2 18 N/A INTRINSIC
UBCc 50 193 2.41e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132374
SMART Domains Protein: ENSMUSP00000121496
Gene: ENSMUSG00000021772

Pfam:Arf 1 168 7.8e-11 PFAM
Pfam:Roc 6 124 1.6e-13 PFAM
Pfam:Ras 6 170 5.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133460
SMART Domains Protein: ENSMUSP00000122235
Gene: ENSMUSG00000021772

Pfam:Arf 4 115 1.7e-7 PFAM
Pfam:Ras 4 118 1.3e-21 PFAM
Pfam:Miro 5 97 1.7e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162831
Predicted Effect probably benign
Transcript: ENSMUST00000225612
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (57/58)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,288,532 T710M probably benign Het
Acan A G 7: 79,099,957 E1492G probably benign Het
Acsl1 A G 8: 46,533,590 D638G possibly damaging Het
Acsl6 C A 11: 54,327,157 T207K probably benign Het
Ahnak A T 19: 9,011,494 K3381* probably null Het
Art1 T C 7: 102,106,824 V74A probably damaging Het
Bhmt2 A T 13: 93,662,504 W270R probably benign Het
Calm2 T C 17: 87,435,145 T118A probably benign Het
Ccdc88b G T 19: 6,854,084 Q497K possibly damaging Het
Ccne2 A T 4: 11,197,249 M183L probably benign Het
Cdc42bpg A G 19: 6,317,677 I1026V probably damaging Het
Celsr2 T C 3: 108,413,193 T768A probably damaging Het
Cog5 T C 12: 31,837,289 F470L probably damaging Het
Cpne5 T C 17: 29,162,332 D374G probably damaging Het
Disp2 A C 2: 118,791,685 E966A probably damaging Het
Dmrtc2 C T 7: 24,873,919 probably benign Het
Eif2b3 T A 4: 117,028,540 I93N probably damaging Het
Elfn2 C A 15: 78,672,446 V634L probably benign Het
Fasl T G 1: 161,787,138 S119R probably benign Het
Foxp2 C G 6: 15,437,902 P701A probably damaging Het
Helz T A 11: 107,672,964 probably benign Het
Kctd6 T C 14: 8,222,683 V175A probably benign Het
Leo1 A G 9: 75,445,709 N178S probably benign Het
Lhx6 C A 2: 36,103,359 R80L probably damaging Het
Man1a2 A G 3: 100,591,900 L406P probably damaging Het
Mapkap1 T C 2: 34,597,482 F231L probably damaging Het
Mknk2 A G 10: 80,668,701 Y256H probably damaging Het
Msh6 A G 17: 87,989,483 T1203A probably damaging Het
Nbeal2 T C 9: 110,638,308 Y604C probably damaging Het
Ncam1 G T 9: 49,568,481 Q66K probably benign Het
Nsd2 T A 5: 33,882,919 H933Q probably damaging Het
Olfr1341 T C 4: 118,710,055 V216A probably benign Het
Olfr1564 T A 17: 33,215,568 I262F probably damaging Het
Olfr191 T A 16: 59,085,586 K299I probably benign Het
Olfr709-ps1 A G 7: 106,926,590 Y290H probably damaging Het
Pappa A C 4: 65,156,445 D412A probably damaging Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Rassf6 C T 5: 90,603,938 E308K probably damaging Het
Rb1 T C 14: 73,211,651 T680A probably damaging Het
Rfpl4 T A 7: 5,110,853 I104F probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Rnase6 A C 14: 51,130,517 D122A probably benign Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,579,906 probably benign Het
Sec31b G A 19: 44,543,353 T39I possibly damaging Het
Slc12a1 A G 2: 125,173,681 I385V probably damaging Het
Slc6a17 A T 3: 107,491,501 Y261* probably null Het
Supt6 G A 11: 78,208,167 P1626L possibly damaging Het
Tbx15 A G 3: 99,326,455 probably benign Het
Telo2 A G 17: 25,110,818 V240A probably benign Het
Trhr C T 15: 44,229,242 L292F probably damaging Het
Trps1 G A 15: 50,831,730 L340F possibly damaging Het
Yeats2 T C 16: 20,213,401 probably benign Het
Zbtb39 G A 10: 127,742,975 E473K probably benign Het
Zfp235 T A 7: 24,140,962 S269T possibly damaging Het
Zfp580 C A 7: 5,053,064 P141Q possibly damaging Het
Other mutations in Ube2e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Ube2e1 APN 14 18330951 missense probably null 0.54
IGL02296:Ube2e1 APN 14 18331062 intron probably benign
R4897:Ube2e1 UTSW 14 18285268 missense probably damaging 0.96
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-10-01