Incidental Mutation 'PIT4445001:Ube2l3'
ID 555430
Institutional Source Beutler Lab
Gene Symbol Ube2l3
Ensembl Gene ENSMUSG00000038965
Gene Name ubiquitin-conjugating enzyme E2L 3
Synonyms UbcM4, Ubce7
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4445001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 17152013-17202649 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17160172 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 43 (N43S)
Ref Sequence ENSEMBL: ENSMUSP00000087658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090192] [ENSMUST00000231643] [ENSMUST00000232035] [ENSMUST00000232139] [ENSMUST00000232479] [ENSMUST00000232594]
AlphaFold P68037
Predicted Effect probably benign
Transcript: ENSMUST00000090192
AA Change: N43S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087658
Gene: ENSMUSG00000038965
AA Change: N43S

UBCc 5 149 1.43e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231643
AA Change: N11S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000232035
AA Change: N43S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000232139
AA Change: N43S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232479
Predicted Effect probably benign
Transcript: ENSMUST00000232514
Predicted Effect probably benign
Transcript: ENSMUST00000232594
Predicted Effect
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 70.9%
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 (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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,075,551 (GRCm38) K419E probably damaging Het
Adam7 T A 14: 68,509,748 (GRCm38) K587N possibly damaging Het
Agl T C 3: 116,771,460 (GRCm38) M382V Het
Agpat3 A T 10: 78,274,093 (GRCm38) F341I possibly damaging Het
Ampd2 A T 3: 108,075,012 (GRCm38) L767Q probably damaging Het
Arhgap28 A T 17: 67,896,235 (GRCm38) D124E possibly damaging Het
Arhgap32 T C 9: 32,260,856 (GRCm38) L1644P probably damaging Het
Asic4 T C 1: 75,451,127 (GRCm38) V99A probably benign Het
Asns T A 6: 7,689,277 (GRCm38) N75I probably damaging Het
Atp10a A G 7: 58,803,467 (GRCm38) D798G probably damaging Het
Atp8a1 A G 5: 67,622,660 (GRCm38) V1145A Het
BC017158 A G 7: 128,276,534 (GRCm38) V243A probably benign Het
Ccdc171 A G 4: 83,661,747 (GRCm38) Q577R probably damaging Het
Cd247 T A 1: 165,861,036 (GRCm38) D154E probably damaging Het
Ceacam1 A T 7: 25,476,456 (GRCm38) N104K probably damaging Het
Chfr A G 5: 110,151,677 (GRCm38) D312G possibly damaging Het
Ddb1 C A 19: 10,625,970 (GRCm38) L881I probably damaging Het
Dgkh A T 14: 78,575,942 (GRCm38) I1032N possibly damaging Het
Efcab6 A T 15: 83,904,267 (GRCm38) V942D probably benign Het
Fmo5 A G 3: 97,651,528 (GRCm38) T435A probably benign Het
Fpr1 T C 17: 17,876,893 (GRCm38) Q278R probably benign Het
Fzr1 C T 10: 81,369,394 (GRCm38) W256* probably null Het
Gabrb1 T C 5: 72,108,782 (GRCm38) S261P probably damaging Het
Galr2 G T 11: 116,281,648 (GRCm38) A55S probably benign Het
Gbp2 A T 3: 142,637,466 (GRCm38) K581N probably benign Het
Gm7682 T G 5: 94,448,507 (GRCm38) W468G probably benign Het
Gria1 A T 11: 57,185,838 (GRCm38) Y89F probably damaging Het
Ibsp T A 5: 104,302,304 (GRCm38) I26N possibly damaging Het
Igf1r T C 7: 68,207,463 (GRCm38) F1058L probably damaging Het
Ighv1-16 A C 12: 114,666,060 (GRCm38) C36G probably benign Het
Igll1 T C 16: 16,860,919 (GRCm38) T176A probably benign Het
Ilkap T C 1: 91,385,345 (GRCm38) T143A probably benign Het
Kdm3b A T 18: 34,793,115 (GRCm38) K103* probably null Het
Mphosph9 A G 5: 124,298,790 (GRCm38) I497T possibly damaging Het
Mrgpra3 G A 7: 47,590,160 (GRCm38) T6I possibly damaging Het
Mrpl38 T C 11: 116,132,558 (GRCm38) probably null Het
Myo3a A T 2: 22,542,415 (GRCm38) E813V possibly damaging Het
Myo7b G T 18: 31,959,466 (GRCm38) Q2093K possibly damaging Het
Myo7b T C 18: 31,962,352 (GRCm38) K1851R probably damaging Het
P3h2 T A 16: 25,984,999 (GRCm38) D339V probably benign Het
Pcdhb6 C A 18: 37,335,247 (GRCm38) P407Q possibly damaging Het
Plch2 C A 4: 155,009,026 (GRCm38) R153L probably damaging Het
Plppr4 G A 3: 117,360,308 (GRCm38) probably benign Het
Ppp1r3a A G 6: 14,717,777 (GRCm38) F1046S probably damaging Het
Prkacb A T 3: 146,755,691 (GRCm38) L107M probably benign Het
Ranbp17 A G 11: 33,481,020 (GRCm38) probably null Het
Rasl11b C A 5: 74,197,333 (GRCm38) P88Q probably damaging Het
Rcc2 A G 4: 140,721,149 (GRCm38) E503G possibly damaging Het
Rnf216 T A 5: 143,086,003 (GRCm38) K407N probably damaging Het
Scrn3 G A 2: 73,318,329 (GRCm38) M81I possibly damaging Het
Scube2 T C 7: 109,809,180 (GRCm38) T687A probably benign Het
Serpinb10 T A 1: 107,535,998 (GRCm38) F3L probably benign Het
Sgcb C T 5: 73,639,812 (GRCm38) V202I probably damaging Het
Sgce A G 6: 4,689,654 (GRCm38) V429A possibly damaging Het
Sh3rf2 T C 18: 42,153,164 (GRCm38) V574A probably benign Het
Sncaip T C 18: 52,868,944 (GRCm38) L179S probably damaging Het
Sntg2 A T 12: 30,312,572 (GRCm38) D58E probably damaging Het
Taar3 T C 10: 23,949,688 (GRCm38) I44T possibly damaging Het
Tmem87b G A 2: 128,831,471 (GRCm38) V227I probably benign Het
Tnfsf9 T C 17: 57,105,517 (GRCm38) L29P possibly damaging Het
Tnip2 T C 5: 34,496,871 (GRCm38) H391R probably benign Het
Traf5 A G 1: 191,997,807 (GRCm38) Y125H Het
Ttc23 T G 7: 67,667,213 (GRCm38) I77M probably damaging Het
Vars2 A T 17: 35,666,211 (GRCm38) C142* probably null Het
Vmn2r15 A C 5: 109,287,142 (GRCm38) D565E probably damaging Het
Vmn2r56 C T 7: 12,715,226 (GRCm38) probably null Het
Vmn2r79 A T 7: 87,002,200 (GRCm38) D269V possibly damaging Het
Vmn2r85 A T 10: 130,425,703 (GRCm38) M255K probably benign Het
Wfdc6a T A 2: 164,579,826 (GRCm38) *137C probably null Het
Wipi2 T C 5: 142,666,884 (GRCm38) V417A probably benign Het
Xirp2 G T 2: 67,509,772 (GRCm38) V786L possibly damaging Het
Zdhhc13 G A 7: 48,795,949 (GRCm38) G26S probably benign Het
Zscan25 T A 5: 145,290,612 (GRCm38) V362D probably damaging Het
Other mutations in Ube2l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5947:Ube2l3 UTSW 16 17,201,476 (GRCm38) splice site probably null
R5947:Ube2l3 UTSW 16 17,201,472 (GRCm38) unclassified probably benign
R6979:Ube2l3 UTSW 16 17,159,977 (GRCm38) splice site probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-07