Incidental Mutation 'IGL03339:Ube2b'
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ID417142
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: 0.618) question?
Stock #IGL03339
Quality Score
Status
Chromosome11
Chromosomal Location51985497-52000762 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 51986707 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 145 (V145D)
Ref Sequence ENSEMBL: ENSMUSP00000104714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020657] [ENSMUST00000109086]
Predicted Effect probably damaging
Transcript: ENSMUST00000020657
AA Change: V145D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020657
Gene: ENSMUSG00000020390
AA Change: V145D

DomainStartEndE-ValueType
UBCc 7 150 3.01e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109086
AA Change: V145D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104714
Gene: ENSMUSG00000020390
AA Change: V145D

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,442,456 E323G probably damaging Het
A4gnt T C 9: 99,620,548 S254P probably damaging Het
Actn4 A G 7: 28,901,982 L447P probably damaging Het
Agbl2 C A 2: 90,797,563 S237R probably damaging Het
Apc G A 18: 34,298,474 D309N probably damaging Het
Arhgef3 A G 14: 27,401,857 M492V probably damaging Het
Atp10b T A 11: 43,230,615 M1035K probably null Het
Cfap69 T A 5: 5,586,436 probably benign Het
Ctf1 A G 7: 127,713,994 N24S probably benign Het
Cx3cr1 T A 9: 120,051,437 K300* probably null Het
Ddx25 A T 9: 35,542,003 Y484N probably damaging Het
Eif4g1 A G 16: 20,680,984 E506G possibly damaging Het
Ficd G T 5: 113,738,739 R325L probably benign Het
G6pc2 A G 2: 69,220,895 probably benign Het
Gm11168 C A 9: 3,004,767 P103T probably benign Het
Hbb-y A T 7: 103,852,769 H98Q probably damaging Het
Hmcn1 A G 1: 150,701,969 S2014P probably benign Het
Hoxc5 T C 15: 103,014,136 Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 probably benign Het
Ighg2c A C 12: 113,287,994 V171G unknown Het
Kctd13 A G 7: 126,945,018 D296G probably benign Het
Mfsd2b A C 12: 4,874,335 M1R probably null Het
Nipbl A G 15: 8,350,876 S811P probably benign Het
Olfr118 G A 17: 37,672,557 C178Y possibly damaging Het
Olfr119 G T 17: 37,700,791 M40I probably damaging Het
Olfr1484 T G 19: 13,586,075 M257R probably damaging Het
Olfr569 G A 7: 102,887,782 R124C probably benign Het
Pcolce2 T C 9: 95,678,340 probably benign Het
Pik3c2a G T 7: 116,418,021 T167K possibly damaging Het
Ppp1r18 A G 17: 35,868,046 D271G probably benign Het
Rnf213 T C 11: 119,443,004 I3013T probably damaging Het
Rock1 A T 18: 10,097,493 M765K probably benign Het
Sec16a T C 2: 26,435,933 Y1244C probably benign Het
Taar7d T C 10: 24,027,306 C29R possibly damaging Het
Tmem56 C T 3: 121,228,840 probably benign Het
Ttn A C 2: 76,741,920 F26210V probably damaging Het
Vmn1r219 T G 13: 23,163,410 S256R possibly damaging Het
Other mutations in Ube2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Ube2b APN 11 51986719 missense probably damaging 1.00
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
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 On2016-08-02