Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00661:Ube2b'

10390

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube2b

Ensembl Gene

ENSMUSG00000020390

Gene Name

ubiquitin-conjugating enzyme E2B

Synonyms

Rad6b, HR6B, E2-14k

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.400) question?

Stock #

IGL00661

Quality Score

Status

Chromosome

Chromosomal Location

51985497-52000762 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 52000292 bp (GRCm38)

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] [ENSMUST00000109080] [ENSMUST00000109081] [ENSMUST00000109086] [ENSMUST00000120374] [ENSMUST00000121591] [ENSMUST00000135076] [ENSMUST00000143228]

AlphaFold

P63147

Predicted Effect

probably null
Transcript: ENSMUST00000020657

SMART Domains

Protein: ENSMUSP00000020657
Gene: ENSMUSG00000020390

Domain	Start	End	E-Value	Type
UBCc	7	150	3.01e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063303

SMART Domains

Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
S_TKc	4	286	2.27e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109077

SMART Domains

Protein: ENSMUSP00000104705
Gene: ENSMUSG00000020389

Domain	Start	End	E-Value	Type
S_TKc	4	286	2.27e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109078

SMART Domains

Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
S_TKc	4	286	2.27e-95	SMART
Blast:S_TKc	361	477	9e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000109080

SMART Domains

Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389

Domain	Start	End	E-Value	Type
S_TKc	4	286	2.27e-95	SMART
Blast:S_TKc	361	477	1e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000109081

SMART Domains

Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389

Domain	Start	End	E-Value	Type
S_TKc	4	286	2.27e-95	SMART
Blast:S_TKc	361	477	1e-18	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000109086

SMART Domains

Protein: ENSMUSP00000104714
Gene: ENSMUSG00000020390

Domain	Start	End	E-Value	Type
UBCc	7	150	3.01e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120374

SMART Domains

Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
S_TKc	4	286	2.27e-95	SMART
Blast:S_TKc	361	477	1e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124699

Predicted Effect

probably benign
Transcript: ENSMUST00000135076

SMART Domains

Protein: ENSMUSP00000117983
Gene: ENSMUSG00000020389

Domain	Start	End	E-Value	Type
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: ENSMUST00000143228

SMART Domains

Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389

Domain	Start	End	E-Value	Type
S_TKc	4	286	2.27e-95	SMART
Blast:S_TKc	361	477	1e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147412

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr2	T	C	5: 98,004,296	D152G	probably benign	Het
Blmh	A	T	11: 76,965,932	K118*	probably null	Het
Bnip3	G	A	7: 138,898,072	P62L	probably damaging	Het
Catsperb	A	T	12: 101,588,098	T684S	probably damaging	Het
Chd3	C	A	11: 69,357,383	K894N	possibly damaging	Het
Chkb	T	A	15: 89,427,591	R133S	probably benign	Het
Dennd5a	T	C	7: 109,908,372	N803S	probably benign	Het
Dync2li1	A	T	17: 84,649,240	D276V	possibly damaging	Het
Erap1	T	C	13: 74,674,789		probably benign	Het
Gm13178	A	G	4: 144,703,693	V242A	possibly damaging	Het
Hgsnat	C	T	8: 25,972,937	V70M	probably benign	Het
Leprot	T	C	4: 101,652,476		probably null	Het
Lhcgr	G	A	17: 88,750,118	A315V	probably benign	Het
Lrrn4	C	T	2: 132,870,668	V412I	probably benign	Het
Macrod2	G	A	2: 140,419,904		probably null	Het
Mmaa	G	A	8: 79,281,570	R13C	probably damaging	Het
Plpp4	T	A	7: 129,316,299	I66N	probably damaging	Het
Prl4a1	T	C	13: 28,021,376	V108A	probably benign	Het
Prss1	G	T	6: 41,462,619	K95N	possibly damaging	Het
Rasa2	C	T	9: 96,577,553		probably benign	Het
Relb	A	G	7: 19,616,411	V208A	possibly damaging	Het
Sema3d	T	C	5: 12,505,839	S178P	probably damaging	Het
Slc18a1	A	T	8: 69,073,731	W102R	probably benign	Het
Slc39a8	A	C	3: 135,858,112	K239N	probably benign	Het
Stap1	A	G	5: 86,081,273	H100R	probably benign	Het
Suz12	T	A	11: 79,999,092	V143E	probably damaging	Het
Tmf1	A	G	6: 97,176,494	V206A	probably benign	Het
Trim16	T	A	11: 62,837,232		probably benign	Het
Vmn1r223	T	C	13: 23,250,084	S283P	probably damaging	Het
Wrn	T	A	8: 33,319,145		probably benign	Het

Other mutations in Ube2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Ube2b	APN	11	51986719	missense	probably damaging	1.00
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 On

2012-12-06