Incidental Mutation 'R4897:Ube2e1'
ID 430215
Institutional Source Beutler Lab
Gene Symbol Ube2e1
Ensembl Gene ENSMUSG00000021774
Gene Name ubiquitin-conjugating enzyme E2E 1
Synonyms UbcM3, ubcM2, Ubce5
MMRRC Submission 042501-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4897 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 4137852-4186967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 18285268 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 68 (S68R)
Ref Sequence ENSEMBL: ENSMUSP00000022296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022294] [ENSMUST00000022296] [ENSMUST00000132374] [ENSMUST00000225612]
AlphaFold P52482
Predicted Effect probably benign
Transcript: ENSMUST00000022294
SMART Domains Protein: ENSMUSP00000022294
Gene: ENSMUSG00000021772

DomainStartEndE-ValueType
SCOP:d1i2ma_ 5 39 1e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000022296
AA Change: S68R

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022296
Gene: ENSMUSG00000021774
AA Change: S68R

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000160266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162831
Predicted Effect possibly damaging
Transcript: ENSMUST00000225612
AA Change: S31R

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.3992 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (79/79)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C A 2: 35,266,309 (GRCm39) M120I probably damaging Het
4933427D14Rik A T 11: 72,082,342 (GRCm39) L328Q probably damaging Het
Adgrv1 A C 13: 81,709,704 (GRCm39) probably null Het
Ankrd46 A T 15: 36,484,279 (GRCm39) probably benign Het
Arhgef18 A T 8: 3,494,979 (GRCm39) M413L probably benign Het
Atp6v1e1 G A 6: 120,781,044 (GRCm39) T87M probably null Het
Bap1 T C 14: 30,980,402 (GRCm39) probably benign Het
Brf1 A G 12: 112,929,507 (GRCm39) L385P probably benign Het
C1qtnf1 A T 11: 118,338,938 (GRCm39) N203Y probably damaging Het
Catsperb A T 12: 101,569,025 (GRCm39) N899I probably damaging Het
Ccnjl A C 11: 43,470,718 (GRCm39) D162A probably damaging Het
Cd248 A C 19: 5,119,195 (GRCm39) I348L probably benign Het
Cdc20 T C 4: 118,293,029 (GRCm39) T265A probably benign Het
Cdca5 T A 19: 6,140,427 (GRCm39) L196* probably null Het
Cdk4 T A 10: 126,900,444 (GRCm39) probably benign Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Clec4b2 G T 6: 123,177,999 (GRCm39) E105* probably null Het
Dapk1 T A 13: 60,909,600 (GRCm39) D1404E probably benign Het
Dnah1 T C 14: 30,989,496 (GRCm39) Y3308C probably damaging Het
Dnah17 A C 11: 117,969,419 (GRCm39) Y2260D probably damaging Het
Dock8 T G 19: 25,159,001 (GRCm39) S1720A probably benign Het
Erc1 A G 6: 119,754,947 (GRCm39) probably null Het
Ergic1 A G 17: 26,848,597 (GRCm39) I66V probably benign Het
Fam186a T C 15: 99,843,158 (GRCm39) T1029A possibly damaging Het
Fat4 A T 3: 39,034,781 (GRCm39) Y2811F probably damaging Het
Flt3 A G 5: 147,306,110 (GRCm39) M310T probably damaging Het
Ganab T A 19: 8,892,355 (GRCm39) C844S probably benign Het
Gas2l2 C A 11: 83,320,041 (GRCm39) V72F probably damaging Het
Gm14401 T A 2: 176,778,573 (GRCm39) C220S probably damaging Het
Hmmr A T 11: 40,619,261 (GRCm39) V73E probably benign Het
Idi2l T G 13: 8,990,637 (GRCm39) probably benign Het
Ifih1 G T 2: 62,465,358 (GRCm39) probably benign Het
Jak3 A G 8: 72,138,048 (GRCm39) E833G probably damaging Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Ldb1 G A 19: 46,023,132 (GRCm39) A217V probably benign Het
Lrrc8c A G 5: 105,755,955 (GRCm39) T577A probably benign Het
Mfn1 T A 3: 32,600,711 (GRCm39) probably benign Het
Mki67 G A 7: 135,298,474 (GRCm39) P2187S probably damaging Het
Mrc1 T A 2: 14,323,952 (GRCm39) D1096E probably benign Het
Msi1 A G 5: 115,573,654 (GRCm39) probably benign Het
Msto1 T A 3: 88,819,559 (GRCm39) I152F probably benign Het
Myo9a A G 9: 59,803,800 (GRCm39) R2060G probably benign Het
Nnt A T 13: 119,541,107 (GRCm39) C44* probably null Het
Nup210l A G 3: 90,100,378 (GRCm39) D1468G probably damaging Het
Or1j16 T C 2: 36,530,906 (GRCm39) L285P probably damaging Het
Or4c10b A G 2: 89,711,476 (GRCm39) E102G probably benign Het
Or5d46 C A 2: 88,174,686 (GRCm39) C129F possibly damaging Het
Or7a40 T C 16: 16,491,482 (GRCm39) D121G probably damaging Het
P2rx3 G A 2: 84,855,270 (GRCm39) T62I probably damaging Het
Pabpc4l G T 3: 46,401,578 (GRCm39) T22K probably damaging Het
Pcdha7 A G 18: 37,108,646 (GRCm39) D557G probably damaging Het
Pcdhb20 A G 18: 37,639,298 (GRCm39) K608R possibly damaging Het
Pcnx1 A G 12: 81,964,939 (GRCm39) S369G probably damaging Het
Plod1 T C 4: 148,004,736 (GRCm39) I455V probably benign Het
Prune2 A T 19: 17,099,219 (GRCm39) E1574D probably benign Het
Ptar1 T A 19: 23,680,472 (GRCm39) L96H probably damaging Het
Rabgap1 T C 2: 37,450,583 (GRCm39) S904P probably benign Het
Rps6ka4 C T 19: 6,815,467 (GRCm39) V176I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Runx1t1 T A 4: 13,771,459 (GRCm39) M1K probably null Het
Serinc4 T A 2: 121,282,905 (GRCm39) Y419F probably damaging Het
Serpina12 A T 12: 104,004,056 (GRCm39) M192K possibly damaging Het
Spata21 T A 4: 140,832,261 (GRCm39) M474K probably damaging Het
Stpg1 T C 4: 135,246,676 (GRCm39) S135P possibly damaging Het
Tdrkh A G 3: 94,336,671 (GRCm39) D481G probably damaging Het
Vcpip1 A C 1: 9,817,572 (GRCm39) N270K probably damaging Het
Vmn2r79 T C 7: 86,650,675 (GRCm39) F154L probably benign Het
Vwa3b A G 1: 37,153,684 (GRCm39) probably benign Het
Xdh C A 17: 74,207,703 (GRCm39) V885L probably benign Het
Zfp141 A T 7: 42,125,629 (GRCm39) V281D probably benign Het
Zfp317 T A 9: 19,558,143 (GRCm39) I119N probably benign Het
Zfp345 G A 2: 150,314,608 (GRCm39) R310C probably benign Het
Zfp760 G A 17: 21,942,229 (GRCm39) C468Y probably benign Het
Other mutations in Ube2e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Ube2e1 APN 14 18,330,951 (GRCm38) missense probably null 0.54
IGL02296:Ube2e1 APN 14 18,331,062 (GRCm38) intron probably benign
R2167:Ube2e1 UTSW 14 18,284,429 (GRCm38) splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- GCACACAAATGGAAGACTCTAG -3'
(R):5'- AAGTTCATGTCTAGCTGCAGC -3'

Sequencing Primer
(F):5'- GGAAGACTCTAGCTTTTGTGATTAC -3'
(R):5'- CTGCAGCTAGAGTGTTTAGAATG -3'
Posted On 2016-09-21