Incidental Mutation 'IGL00592:Ube2l6'
ID 7136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2l6
Ensembl Gene ENSMUSG00000027078
Gene Name ubiquitin-conjugating enzyme E2L 6
Synonyms UBCH8, Ubce8, 2810489I21Rik, Ubcm8, RIG-B
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL00592
Quality Score
Status
Chromosome 2
Chromosomal Location 84629172-84640347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84639373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 112 (V112E)
Ref Sequence ENSEMBL: ENSMUSP00000099702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028471] [ENSMUST00000102642] [ENSMUST00000150325]
AlphaFold Q9QZU9
Predicted Effect probably benign
Transcript: ENSMUST00000028471
SMART Domains Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077

DomainStartEndE-ValueType
low complexity region 56 72 N/A INTRINSIC
coiled coil region 124 154 N/A INTRINSIC
low complexity region 218 230 N/A INTRINSIC
low complexity region 236 246 N/A INTRINSIC
low complexity region 260 285 N/A INTRINSIC
CH 345 444 5.55e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102642
AA Change: V112E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099702
Gene: ENSMUSG00000027078
AA Change: V112E

DomainStartEndE-ValueType
UBCc 5 149 1.03e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150325
SMART Domains Protein: ENSMUSP00000119507
Gene: ENSMUSG00000027078

DomainStartEndE-ValueType
PDB:2KJH|A 1 88 6e-18 PDB
SCOP:d1c4zd_ 3 40 7e-7 SMART
Blast:UBCc 4 89 4e-26 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159150
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 (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 highly similar in primary structure to the enzyme encoded by the UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 A G 3: 138,126,397 (GRCm39) I91V probably damaging Het
Ak6 T C 13: 100,800,599 (GRCm39) V74A probably benign Het
Antxr1 C A 6: 87,265,784 (GRCm39) V110F probably damaging Het
Anxa1 T C 19: 20,355,033 (GRCm39) D247G probably benign Het
Dgkg T C 16: 22,298,112 (GRCm39) probably benign Het
Eva1b T C 4: 126,043,443 (GRCm39) M161T probably benign Het
Fbxw22 C A 9: 109,213,108 (GRCm39) V280F possibly damaging Het
Klhl9 A G 4: 88,639,378 (GRCm39) S288P probably damaging Het
Masp2 C T 4: 148,687,186 (GRCm39) P23S probably benign Het
Ncam1 T A 9: 49,434,865 (GRCm39) D600V probably damaging Het
Pcnx4 A G 12: 72,626,139 (GRCm39) N1115S probably damaging Het
Pdia2 A G 17: 26,417,090 (GRCm39) V109A probably damaging Het
Pla1a G T 16: 38,235,212 (GRCm39) H161N probably damaging Het
Prokr2 A T 2: 132,223,424 (GRCm39) D39E probably benign Het
Sall4 T C 2: 168,597,883 (GRCm39) D319G probably damaging Het
Sgms2 A G 3: 131,135,482 (GRCm39) S131P possibly damaging Het
Slc22a2 A T 17: 12,827,305 (GRCm39) Q319L possibly damaging Het
Slc27a5 A G 7: 12,722,566 (GRCm39) I636T probably benign Het
Tas2r131 T G 6: 132,934,159 (GRCm39) T217P probably damaging Het
Trh T C 6: 92,219,723 (GRCm39) M198V possibly damaging Het
Ube2b A C 11: 51,877,546 (GRCm39) V141G probably damaging Het
Vmn1r79 T C 7: 11,910,934 (GRCm39) I272T probably benign Het
Xylb C T 9: 119,219,549 (GRCm39) Q513* probably null Het
Zbtb4 T A 11: 69,667,557 (GRCm39) C287* probably null Het
Other mutations in Ube2l6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Ube2l6 APN 2 84,639,382 (GRCm39) missense possibly damaging 0.79
IGL02000:Ube2l6 APN 2 84,639,506 (GRCm39) unclassified probably benign
IGL02931:Ube2l6 APN 2 84,633,195 (GRCm39) missense probably damaging 0.99
R0129:Ube2l6 UTSW 2 84,629,252 (GRCm39) start codon destroyed probably null 0.17
R0277:Ube2l6 UTSW 2 84,636,771 (GRCm39) splice site probably null
R1612:Ube2l6 UTSW 2 84,636,717 (GRCm39) missense probably damaging 1.00
R3923:Ube2l6 UTSW 2 84,639,418 (GRCm39) missense possibly damaging 0.85
R5137:Ube2l6 UTSW 2 84,633,220 (GRCm39) critical splice donor site probably null
R6660:Ube2l6 UTSW 2 84,636,852 (GRCm39) missense probably damaging 0.98
Posted On 2012-04-20