Incidental Mutation 'IGL00661:Ube2b'
ID 10390
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: 0.443) question?
Stock # IGL00661
Quality Score
Status
Chromosome 11
Chromosomal Location 51876324-51891589 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 51891119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020657] [ENSMUST00000063303] [ENSMUST00000063321] [ENSMUST00000109076] [ENSMUST00000109077] [ENSMUST00000109078] [ENSMUST00000109079] [ENSMUST00000109086] [ENSMUST00000109080] [ENSMUST00000120374] [ENSMUST00000143228] [ENSMUST00000121591] [ENSMUST00000135076] [ENSMUST00000109081]
AlphaFold P63147
Predicted Effect probably null
Transcript: ENSMUST00000020657
SMART Domains Protein: ENSMUSP00000020657
Gene: ENSMUSG00000020390

DomainStartEndE-ValueType
UBCc 7 150 3.01e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063303
SMART Domains Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000063321
SMART Domains Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 9e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109076
SMART Domains Protein: ENSMUSP00000104704
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109077
SMART Domains Protein: ENSMUSP00000104705
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109078
SMART Domains Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 457 8e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109079
SMART Domains Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 9e-19 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000109086
SMART Domains Protein: ENSMUSP00000104714
Gene: ENSMUSG00000020390

DomainStartEndE-ValueType
UBCc 7 150 3.01e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147412
Predicted Effect probably benign
Transcript: ENSMUST00000109080
SMART Domains Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000120374
SMART Domains Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000143228
SMART Domains Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000121591
SMART Domains Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000135076
SMART Domains Protein: ENSMUSP00000117983
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
Pfam:Pkinase 4 192 5.6e-65 PFAM
Pfam:Pkinase_Tyr 4 192 7.3e-37 PFAM
Pfam:Kinase-like 49 192 3.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109081
SMART Domains Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389

DomainStartEndE-ValueType
S_TKc 4 286 2.27e-95 SMART
Blast:S_TKc 361 477 1e-18 BLAST
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Ube2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Ube2b APN 11 51,877,546 (GRCm39) missense probably damaging 1.00
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 2012-12-06