Incidental Mutation 'R4095:Ube2b'
ID 317866
Institutional Source Beutler Lab
Gene Symbol Ube2b
Ensembl Gene ENSMUSG00000020390
Gene Name ubiquitin-conjugating enzyme E2B
Synonyms HR6B, Rad6b, E2-14k
MMRRC Submission 040858-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.443) question?
Stock # R4095 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 51876324-51891589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 51888654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 39 (V39G)
Ref Sequence ENSEMBL: ENSMUSP00000104714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020657] [ENSMUST00000109086]
AlphaFold P63147
Predicted Effect possibly damaging
Transcript: ENSMUST00000020657
AA Change: V39G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020657
Gene: ENSMUSG00000020390
AA Change: V39G

DomainStartEndE-ValueType
UBCc 7 150 3.01e-72 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109086
AA Change: V39G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104714
Gene: ENSMUSG00000020390
AA Change: V39G

DomainStartEndE-ValueType
UBCc 7 150 3.01e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Meta Mutation Damage Score 0.2845 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 A T 12: 53,186,245 (GRCm39) I1220L probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Apba1 A T 19: 23,921,388 (GRCm39) Q737L probably benign Het
Arvcf T A 16: 18,220,327 (GRCm39) D564E probably damaging Het
Bcl11b G T 12: 107,883,094 (GRCm39) P335Q probably damaging Het
Brd9 G A 13: 74,092,918 (GRCm39) V302I probably benign Het
Brinp3 C A 1: 146,777,430 (GRCm39) H626N possibly damaging Het
C1qc T C 4: 136,617,637 (GRCm39) N153S probably benign Het
Casp3 G A 8: 47,087,251 (GRCm39) G66D probably damaging Het
Coq7 T G 7: 118,126,701 (GRCm39) probably null Het
Dach1 C T 14: 98,138,815 (GRCm39) V491M possibly damaging Het
Dda1 A G 8: 71,926,436 (GRCm39) T52A possibly damaging Het
Entpd7 A G 19: 43,692,640 (GRCm39) Y65C probably damaging Het
Fmnl2 A G 2: 52,991,535 (GRCm39) D350G probably damaging Het
Foxn3 G T 12: 99,162,700 (GRCm39) D400E probably damaging Het
Gbp2 A G 3: 142,343,210 (GRCm39) T576A probably benign Het
Gm15446 T A 5: 110,088,590 (GRCm39) probably null Het
Gtf2a1 G T 12: 91,542,411 (GRCm39) T57K possibly damaging Het
Hps5 T C 7: 46,425,218 (GRCm39) E494G probably benign Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Hydin A G 8: 111,268,179 (GRCm39) N2886S probably damaging Het
Ighv2-6-8 T C 12: 113,759,773 (GRCm39) Y112C probably damaging Het
Kcnf1 A T 12: 17,225,480 (GRCm39) L247Q possibly damaging Het
Kndc1 A G 7: 139,516,938 (GRCm39) M1606V possibly damaging Het
Krt27 T C 11: 99,236,619 (GRCm39) T431A probably benign Het
Lama4 A T 10: 38,973,118 (GRCm39) I1562F probably damaging Het
Lrig1 T C 6: 94,590,559 (GRCm39) D487G probably benign Het
Lrp1b G A 2: 41,339,203 (GRCm39) T880I probably benign Het
Ltbp4 A G 7: 27,024,641 (GRCm39) V663A possibly damaging Het
Mapt T C 11: 104,201,362 (GRCm39) probably null Het
Mpdz A T 4: 81,302,060 (GRCm39) V229D possibly damaging Het
Or10am5 T A 7: 6,518,252 (GRCm39) S59C possibly damaging Het
Or6e1 T C 14: 54,520,188 (GRCm39) T55A probably benign Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Parm1 T C 5: 91,742,039 (GRCm39) S136P probably benign Het
Pcdhgb2 T A 18: 37,824,003 (GRCm39) S331R probably benign Het
Pdxk T C 10: 78,300,644 (GRCm39) H13R probably damaging Het
Ppp1r12c T C 7: 4,486,366 (GRCm39) E601G probably damaging Het
Rell1 C A 5: 64,126,013 (GRCm39) V22L probably benign Het
Sema6c T A 3: 95,080,505 (GRCm39) L901Q probably benign Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc22a23 A G 13: 34,489,189 (GRCm39) L116P probably damaging Het
Slit1 A T 19: 41,596,925 (GRCm39) probably benign Het
Spns1 T C 7: 125,969,958 (GRCm39) T481A probably damaging Het
Tmem104 T A 11: 115,134,749 (GRCm39) Y427* probably null Het
Tmem74 G A 15: 43,730,678 (GRCm39) Q122* probably null Het
Tnpo2 T A 8: 85,765,048 (GRCm39) L10Q probably damaging Het
Trav6-2 G T 14: 52,905,272 (GRCm39) A98S probably benign Het
Ttll5 A T 12: 86,003,376 (GRCm39) R214* probably null Het
Vmn1r185 A T 7: 26,311,208 (GRCm39) V99E probably damaging Het
Wnk1 G A 6: 119,925,087 (GRCm39) T1459I probably damaging Het
Zc3h7a T C 16: 10,963,099 (GRCm39) K754R probably damaging Het
Zfp605 A G 5: 110,275,602 (GRCm39) K240R probably damaging Het
Zfp61 A G 7: 23,990,700 (GRCm39) probably null Het
Other mutations in Ube2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Ube2b APN 11 51,877,546 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCCCCAGACTCAATAAAATGTTTCAAG -3'
(R):5'- GATCGTAACTCATTTCAGCTCCAAC -3'

Sequencing Primer
(F):5'- AATGTTTCAAGAGCTGGATATACAG -3'
(R):5'- TTTCAGCTCCAACTATAACAAGTCAG -3'
Posted On 2015-05-15