Incidental Mutation 'R5947:Ube2l3'
ID 501991
Institutional Source Beutler Lab
Gene Symbol Ube2l3
Ensembl Gene ENSMUSG00000038965
Gene Name ubiquitin-conjugating enzyme E2L 3
Synonyms Ubce7, UbcM4
MMRRC Submission 044138-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5947 (G1)
Quality Score 26
Status Validated
Chromosome 16
Chromosomal Location 16969879-17019363 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 17019336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000090192] [ENSMUST00000115699] [ENSMUST00000115700] [ENSMUST00000231643] [ENSMUST00000232139] [ENSMUST00000232035]
AlphaFold P68037
Predicted Effect probably benign
Transcript: ENSMUST00000090192
SMART Domains Protein: ENSMUSP00000087658
Gene: ENSMUSG00000038965

DomainStartEndE-ValueType
UBCc 5 149 1.43e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115699
SMART Domains Protein: ENSMUSP00000111363
Gene: ENSMUSG00000038965

DomainStartEndE-ValueType
UBCc 5 149 1.43e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115700
SMART Domains Protein: ENSMUSP00000111364
Gene: ENSMUSG00000038965

DomainStartEndE-ValueType
UBCc 5 117 1.59e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179034
Predicted Effect probably benign
Transcript: ENSMUST00000231643
Predicted Effect probably benign
Transcript: ENSMUST00000232139
Predicted Effect probably benign
Transcript: ENSMUST00000232668
Predicted Effect probably benign
Transcript: ENSMUST00000232035
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (70/70)
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 (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: A portion of hypomorphic embyros die before birth while those that survive are growth retarded and do not survive past the first day of life. The embryonic and perinatal lethality are attributed to defective placental development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T C 8: 124,694,737 (GRCm39) probably null Het
Abt1 T C 13: 23,606,225 (GRCm39) E243G possibly damaging Het
Afap1l1 A G 18: 61,876,771 (GRCm39) S361P probably damaging Het
Alms1 T C 6: 85,596,694 (GRCm39) S507P probably benign Het
Atp13a3 A G 16: 30,181,518 (GRCm39) V34A probably benign Het
Atpaf2 A T 11: 60,296,708 (GRCm39) probably benign Het
Bbs1 A C 19: 4,943,022 (GRCm39) L456R probably benign Het
Bri3bp G T 5: 125,529,217 (GRCm39) G84* probably null Het
Bri3bp G C 5: 125,529,218 (GRCm39) probably benign Het
Car10 A C 11: 93,381,439 (GRCm39) H134P probably damaging Het
Cntrl A G 2: 35,006,691 (GRCm39) E119G probably damaging Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Dppa4 T C 16: 48,111,471 (GRCm39) V100A possibly damaging Het
Elmo1 G T 13: 20,474,553 (GRCm39) E105* probably null Het
Esrp2 T G 8: 106,859,565 (GRCm39) probably benign Het
Exoc3l4 A G 12: 111,388,835 (GRCm39) K108R possibly damaging Het
Exph5 G A 9: 53,286,522 (GRCm39) R1201H probably benign Het
Galnt3 A C 2: 65,914,500 (GRCm39) probably benign Het
Gm14486 C T 2: 30,548,813 (GRCm39) noncoding transcript Het
Gna12 T A 5: 140,746,717 (GRCm39) I243F probably damaging Het
Itga5 A T 15: 103,265,212 (GRCm39) W232R probably damaging Het
Lekr1 A T 3: 65,680,498 (GRCm39) noncoding transcript Het
Lrp1 C T 10: 127,425,423 (GRCm39) probably null Het
Mast4 T C 13: 102,872,148 (GRCm39) M2215V probably benign Het
Mfap5 T C 6: 122,502,945 (GRCm39) Y52H probably damaging Het
Mrps31 A G 8: 22,904,991 (GRCm39) K127E possibly damaging Het
Mto1 C T 9: 78,368,311 (GRCm39) T485M probably damaging Het
Mybbp1a G A 11: 72,333,257 (GRCm39) C107Y probably damaging Het
Nedd4 G A 9: 72,638,132 (GRCm39) probably benign Het
Nek2 A G 1: 191,561,597 (GRCm39) E360G probably benign Het
Notch1 T A 2: 26,352,540 (GRCm39) probably benign Het
Nubp1 T C 16: 10,238,050 (GRCm39) probably benign Het
Pcdhb1 G A 18: 37,399,726 (GRCm39) R559H possibly damaging Het
Pdcd11 G A 19: 47,117,702 (GRCm39) V1684I probably benign Het
Pggt1b G T 18: 46,382,007 (GRCm39) N258K probably benign Het
Pou6f1 C T 15: 100,484,001 (GRCm39) V166M possibly damaging Het
Pprc1 A G 19: 46,052,111 (GRCm39) D546G possibly damaging Het
Psapl1 T C 5: 36,361,651 (GRCm39) V81A probably benign Het
Rin2 T A 2: 145,686,863 (GRCm39) probably benign Het
Rpf1 A G 3: 146,212,299 (GRCm39) F347S probably damaging Het
Rrp12 A T 19: 41,859,247 (GRCm39) probably null Het
Ryr1 A T 7: 28,771,349 (GRCm39) L2557Q probably null Het
Slc1a7 T C 4: 107,867,497 (GRCm39) probably benign Het
Slc35e2 T A 4: 155,696,171 (GRCm39) M186K possibly damaging Het
Slc49a4 T C 16: 35,550,676 (GRCm39) T308A probably benign Het
Snx6 G T 12: 54,817,549 (GRCm39) S116* probably null Het
Sptan1 T C 2: 29,884,379 (GRCm39) probably null Het
Sucla2 T A 14: 73,830,109 (GRCm39) M382K probably damaging Het
Susd5 T C 9: 113,886,659 (GRCm39) L16P possibly damaging Het
Tmem260 G A 14: 48,724,258 (GRCm39) A369T possibly damaging Het
Tmprss6 A G 15: 78,336,722 (GRCm39) Y393H probably damaging Het
Tnrc6c A T 11: 117,613,345 (GRCm39) Q501L probably damaging Het
Trim17 A G 11: 58,856,369 (GRCm39) Y142C probably damaging Het
Trim65 T C 11: 116,019,108 (GRCm39) R144G probably damaging Het
Trpm1 A G 7: 63,873,547 (GRCm39) T601A probably benign Het
Ttn A T 2: 76,564,688 (GRCm39) V28483E probably damaging Het
Yme1l1 T C 2: 23,085,318 (GRCm39) probably benign Het
Zfat A G 15: 68,051,806 (GRCm39) S663P probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Ube2l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4445001:Ube2l3 UTSW 16 16,978,036 (GRCm39) missense probably benign
R5947:Ube2l3 UTSW 16 17,019,340 (GRCm39) splice site probably null
R6979:Ube2l3 UTSW 16 16,977,841 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- ACTAACTGACCTAACTTTGGCCG -3'
(R):5'- TCCAGGTCACTCGAGTCTAC -3'

Sequencing Primer
(F):5'- AGAACTGCCCAGGCTGATC -3'
(R):5'- TACACAGGATTCTATAGCCCTGGG -3'
Posted On 2018-02-13