Incidental Mutation 'IGL02931:Ube2l6'
ID 364116
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: 0.090) question?
Stock # IGL02931
Quality Score
Status
Chromosome 2
Chromosomal Location 84629172-84640347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84633195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 34 (V34M)
Ref Sequence ENSEMBL: ENSMUSP00000099702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102642] [ENSMUST00000150325]
AlphaFold Q9QZU9
Predicted Effect probably damaging
Transcript: ENSMUST00000102642
AA Change: V34M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099702
Gene: ENSMUSG00000027078
AA Change: V34M

DomainStartEndE-ValueType
UBCc 5 149 1.03e-38 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000150325
AA Change: V33M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119507
Gene: ENSMUSG00000027078
AA Change: V33M

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,029,012 (GRCm39) R254Q probably benign Het
Adgrv1 T C 13: 81,727,833 (GRCm39) Y269C probably damaging Het
Apol7a C A 15: 77,277,650 (GRCm39) E33* probably null Het
Arhgap29 T C 3: 121,786,509 (GRCm39) V358A probably benign Het
B3galt1 T C 2: 67,948,728 (GRCm39) S148P probably damaging Het
BC061237 A G 14: 44,740,779 (GRCm39) N60D possibly damaging Het
Bcl9l C T 9: 44,412,047 (GRCm39) P11L probably damaging Het
Ccdc89 A C 7: 90,076,110 (GRCm39) K107Q probably benign Het
Col27a1 T C 4: 63,249,663 (GRCm39) probably benign Het
Col5a2 T C 1: 45,424,225 (GRCm39) D1067G probably damaging Het
Col9a2 A T 4: 120,910,389 (GRCm39) R511S probably benign Het
Disp3 G A 4: 148,333,658 (GRCm39) S1060F possibly damaging Het
Dusp8 T C 7: 141,636,667 (GRCm39) T308A probably benign Het
Ern1 T C 11: 106,314,266 (GRCm39) N178S probably damaging Het
Gas6 C A 8: 13,527,136 (GRCm39) C204F probably damaging Het
Gga1 T C 15: 78,777,522 (GRCm39) S558P possibly damaging Het
Gli1 T C 10: 127,168,279 (GRCm39) T525A probably benign Het
Gse1 A G 8: 121,304,808 (GRCm39) probably benign Het
Hmcn1 G A 1: 150,532,958 (GRCm39) S3075L probably benign Het
Hnf4a G A 2: 163,408,037 (GRCm39) probably benign Het
Htt A T 5: 35,034,097 (GRCm39) E1894D probably damaging Het
Kcnh8 G A 17: 53,263,650 (GRCm39) E716K probably benign Het
Kntc1 A G 5: 123,937,874 (GRCm39) Y1524C probably damaging Het
Krtap9-5 A G 11: 99,839,931 (GRCm39) T211A unknown Het
Lin54 T C 5: 100,628,180 (GRCm39) I8V possibly damaging Het
Lipe A G 7: 25,082,760 (GRCm39) probably benign Het
Lpin2 T A 17: 71,545,678 (GRCm39) V508E probably damaging Het
Lrrc9 C A 12: 72,500,923 (GRCm39) H216Q probably damaging Het
Lrrn1 T C 6: 107,544,709 (GRCm39) L169P probably damaging Het
Map9 C A 3: 82,284,428 (GRCm39) T334K possibly damaging Het
Msantd5f1 G A 4: 73,605,602 (GRCm39) A338T probably damaging Het
Mst1 A T 9: 107,961,841 (GRCm39) probably null Het
Mtor T A 4: 148,549,421 (GRCm39) F602I probably benign Het
Mylpf T A 7: 126,812,798 (GRCm39) D98E probably benign Het
Naca C A 10: 127,883,551 (GRCm39) Q2059K probably damaging Het
Nefh G A 11: 4,891,356 (GRCm39) T421I possibly damaging Het
Nlrp4g T A 9: 124,348,940 (GRCm38) noncoding transcript Het
Npat C T 9: 53,482,341 (GRCm39) Q1350* probably null Het
Oaz3 T C 3: 94,342,287 (GRCm39) N123S probably benign Het
Patj A G 4: 98,299,410 (GRCm39) probably benign Het
Pgap6 T A 17: 26,336,923 (GRCm39) F280L probably benign Het
Piezo1 A C 8: 123,210,258 (GRCm39) D2224E probably damaging Het
Pnpla7 A T 2: 24,905,241 (GRCm39) I610F possibly damaging Het
Psapl1 A T 5: 36,362,233 (GRCm39) D275V probably damaging Het
Ptpdc1 T A 13: 48,744,095 (GRCm39) probably benign Het
Rac2 T C 15: 78,454,947 (GRCm39) E31G possibly damaging Het
Sdhc T C 1: 170,971,124 (GRCm39) probably benign Het
Smim23 G T 11: 32,770,667 (GRCm39) P80T probably damaging Het
Snupn C T 9: 56,864,364 (GRCm39) T21I probably benign Het
Tjp2 A G 19: 24,073,996 (GRCm39) V1097A probably benign Het
Ttc16 A G 2: 32,661,939 (GRCm39) Y164H probably damaging Het
Txlnb A G 10: 17,703,730 (GRCm39) E296G probably damaging Het
Vwf A C 6: 125,592,931 (GRCm39) S764R possibly damaging Het
Zfand3 A G 17: 30,411,611 (GRCm39) S146G probably benign Het
Zfp280d T G 9: 72,203,307 (GRCm39) F18L probably benign Het
Other mutations in Ube2l6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Ube2l6 APN 2 84,639,382 (GRCm39) missense possibly damaging 0.79
IGL00592:Ube2l6 APN 2 84,639,373 (GRCm39) missense probably damaging 1.00
IGL02000:Ube2l6 APN 2 84,639,506 (GRCm39) unclassified probably benign
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 2015-12-18