Incidental Mutation 'IGL02000:Ube2l6'
ID183030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2l6
Ensembl Gene ENSMUSG00000027078
Gene Nameubiquitin-conjugating enzyme E2L 6
Synonyms2810489I21Rik, UBCH8, Ubce8, Ubcm8, RIG-B
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL02000
Quality Score
Status
Chromosome2
Chromosomal Location84798828-84810335 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 84809162 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028471] [ENSMUST00000102642] [ENSMUST00000150325]
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 benign
Transcript: ENSMUST00000102642
SMART Domains Protein: ENSMUSP00000099702
Gene: ENSMUSG00000027078

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,319,497 F450S probably damaging Het
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Cd101 G A 3: 101,012,082 P568L probably benign Het
Cdkl4 T C 17: 80,543,763 E170G probably damaging Het
Chit1 A G 1: 134,146,675 E240G probably benign Het
Duox2 T C 2: 122,290,709 T741A probably benign Het
Eef2 T C 10: 81,180,011 V427A probably benign Het
Ewsr1 T C 11: 5,088,077 D105G probably damaging Het
Ftsj3 C T 11: 106,250,407 R629Q probably benign Het
Gm10406 C T 14: 7,009,867 G181E probably benign Het
Ilk A G 7: 105,741,169 H185R probably benign Het
Lamc1 A T 1: 153,240,433 C1001S probably damaging Het
Mcidas T C 13: 112,997,440 S153P probably benign Het
Mtcl1 T C 17: 66,354,190 E931G probably benign Het
Myo10 C T 15: 25,808,066 R1925C probably damaging Het
Notch3 A G 17: 32,122,742 V2012A probably damaging Het
Olfr809 C A 10: 129,776,069 H67N probably benign Het
Parp6 A G 9: 59,648,892 M542V probably benign Het
Rab27a G A 9: 73,084,972 G94D probably damaging Het
Ralgapb A G 2: 158,454,114 probably benign Het
Rassf4 T C 6: 116,645,972 E26G probably benign Het
Rnf166 C T 8: 122,467,222 D221N probably damaging Het
Rptn G T 3: 93,396,428 G356V probably benign Het
Rwdd2b T A 16: 87,436,940 probably benign Het
Scfd1 T A 12: 51,414,117 S337T probably benign Het
Sel1l3 T A 5: 53,145,493 D678V probably damaging Het
Sidt1 A T 16: 44,286,369 F233I probably damaging Het
Slc12a4 T C 8: 105,945,232 D917G probably damaging Het
Slc22a2 A T 17: 12,584,383 I35F possibly damaging Het
Smco1 A T 16: 32,273,933 T141S possibly damaging Het
Svs6 T C 2: 164,317,432 probably benign Het
Syne2 C T 12: 76,015,645 A4247V probably damaging Het
Tacc2 T A 7: 130,729,168 probably null Het
Tgm4 A T 9: 123,056,466 I358F probably damaging Het
Thnsl2 A G 6: 71,134,219 S222P probably damaging Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Usp10 T A 8: 119,948,741 Y63N possibly damaging Het
Vit A G 17: 78,605,486 I283V possibly damaging Het
Vmn1r214 G A 13: 23,035,100 V255I possibly damaging Het
Xpo1 A G 11: 23,296,003 R1038G probably damaging Het
Ybx1 T A 4: 119,282,312 N50I probably damaging Het
Zhx1 T C 15: 58,054,287 K188E probably damaging Het
Other mutations in Ube2l6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Ube2l6 APN 2 84809038 missense possibly damaging 0.79
IGL00592:Ube2l6 APN 2 84809029 missense probably damaging 1.00
IGL02931:Ube2l6 APN 2 84802851 missense probably damaging 0.99
R0129:Ube2l6 UTSW 2 84798908 start codon destroyed probably null 0.17
R0277:Ube2l6 UTSW 2 84806427 splice site probably null
R1612:Ube2l6 UTSW 2 84806373 missense probably damaging 1.00
R3923:Ube2l6 UTSW 2 84809074 missense possibly damaging 0.85
R5137:Ube2l6 UTSW 2 84802876 critical splice donor site probably null
R6660:Ube2l6 UTSW 2 84806508 missense probably damaging 0.98
Posted On2014-05-07