Incidental Mutation 'IGL00592:Ube2b'
ID4604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2b
Ensembl Gene ENSMUSG00000020390
Gene Nameubiquitin-conjugating enzyme E2B
SynonymsRad6b, HR6B, E2-14k
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.649) question?
Stock #IGL00592
Quality Score
Status
Chromosome11
Chromosomal Location51985497-52000762 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 51986719 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 141 (V141G)
Ref Sequence ENSEMBL: ENSMUSP00000104714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020657] [ENSMUST00000109086]
Predicted Effect probably damaging
Transcript: ENSMUST00000020657
AA Change: V141G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020657
Gene: ENSMUSG00000020390
AA Change: V141G

DomainStartEndE-ValueType
UBCc 7 150 3.01e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109086
AA Change: V141G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104714
Gene: ENSMUSG00000020390
AA Change: V141G

DomainStartEndE-ValueType
UBCc 7 150 3.01e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit male sterility with failure at the stage of postmeiotic condensation of chromatin in spermatids. However, in 10-20% of males there is a nearly complete absence of all germ cell types. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 A G 3: 138,420,636 I91V probably damaging Het
Ak6 T C 13: 100,664,091 V74A probably benign Het
Antxr1 C A 6: 87,288,802 V110F probably damaging Het
Anxa1 T C 19: 20,377,669 D247G probably benign Het
Dgkg T C 16: 22,479,362 probably benign Het
Eva1b T C 4: 126,149,650 M161T probably benign Het
Fbxw22 C A 9: 109,384,040 V280F possibly damaging Het
Klhl9 A G 4: 88,721,141 S288P probably damaging Het
Masp2 C T 4: 148,602,729 P23S probably benign Het
Ncam1 T A 9: 49,523,565 D600V probably damaging Het
Pcnx4 A G 12: 72,579,365 N1115S probably damaging Het
Pdia2 A G 17: 26,198,116 V109A probably damaging Het
Pla1a G T 16: 38,414,850 H161N probably damaging Het
Prokr2 A T 2: 132,381,504 D39E probably benign Het
Sall4 T C 2: 168,755,963 D319G probably damaging Het
Sgms2 A G 3: 131,341,833 S131P possibly damaging Het
Slc22a2 A T 17: 12,608,418 Q319L possibly damaging Het
Slc27a5 A G 7: 12,988,639 I636T probably benign Het
Tas2r131 T G 6: 132,957,196 T217P probably damaging Het
Trh T C 6: 92,242,742 M198V possibly damaging Het
Ube2l6 T A 2: 84,809,029 V112E probably damaging Het
Vmn1r79 T C 7: 12,177,007 I272T probably benign Het
Xylb C T 9: 119,390,483 Q513* probably null Het
Zbtb4 T A 11: 69,776,731 C287* probably null Het
Other mutations in Ube2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Ube2b APN 11 52000292 critical splice donor site probably null
IGL00843:Ube2b APN 11 51995375 missense probably benign 0.00
IGL02972:Ube2b APN 11 51988682 missense probably damaging 1.00
IGL03339:Ube2b APN 11 51986707 missense probably damaging 1.00
R0390:Ube2b UTSW 11 51988602 splice site probably benign
R1589:Ube2b UTSW 11 51997872 missense probably benign 0.13
R4095:Ube2b UTSW 11 51997827 missense possibly damaging 0.93
R4651:Ube2b UTSW 11 51995372 critical splice donor site probably null
R4653:Ube2b UTSW 11 51995372 critical splice donor site probably null
R5385:Ube2b UTSW 11 51988644 missense probably damaging 1.00
R6425:Ube2b UTSW 11 51991417 nonsense probably null
R7596:Ube2b UTSW 11 51986743 missense probably damaging 0.99
Posted On2012-04-20