Incidental Mutation 'IGL00592:Ube2b'
ID 4604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2b
Ensembl Gene ENSMUSG00000020390
Gene Name ubiquitin-conjugating enzyme E2B
Synonyms HR6B, Rad6b, E2-14k
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.414) question?
Stock # IGL00592
Quality Score
Status
Chromosome 11
Chromosomal Location 51876324-51891589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 51877546 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P63147
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: 138,126,397 (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
Ube2l6 T A 2: 84,639,373 (GRCm39) V112E 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 Ube2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Ube2b APN 11 51,891,119 (GRCm39) critical splice donor site probably null
IGL00843:Ube2b APN 11 51,886,202 (GRCm39) missense probably benign 0.00
IGL02972:Ube2b APN 11 51,879,509 (GRCm39) missense probably damaging 1.00
IGL03339:Ube2b APN 11 51,877,534 (GRCm39) missense probably damaging 1.00
R0390:Ube2b UTSW 11 51,879,429 (GRCm39) splice site probably benign
R1589:Ube2b UTSW 11 51,888,699 (GRCm39) missense probably benign 0.13
R4095:Ube2b UTSW 11 51,888,654 (GRCm39) missense possibly damaging 0.93
R4651:Ube2b UTSW 11 51,886,199 (GRCm39) critical splice donor site probably null
R4653:Ube2b UTSW 11 51,886,199 (GRCm39) critical splice donor site probably null
R5385:Ube2b UTSW 11 51,879,471 (GRCm39) missense probably damaging 1.00
R6425:Ube2b UTSW 11 51,882,244 (GRCm39) nonsense probably null
R7596:Ube2b UTSW 11 51,877,570 (GRCm39) missense probably damaging 0.99
Posted On 2012-04-20