Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00939:Ube2j2'

27266

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube2j2

Ensembl Gene

ENSMUSG00000023286

Gene Name

ubiquitin-conjugating enzyme E2J 2

Synonyms

2400008G19Rik, 5730472G04Rik, Ubc6, 1200007B18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00939

Quality Score

Status

Chromosome

Chromosomal Location

156028288-156044061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156040904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 177 (E177G)

Ref Sequence

ENSEMBL: ENSMUSP00000101208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024056] [ENSMUST00000103175] [ENSMUST00000105581] [ENSMUST00000105582] [ENSMUST00000105583] [ENSMUST00000118192] [ENSMUST00000152536] [ENSMUST00000166489]

AlphaFold

Q6P073

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024056
AA Change: E177G

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000024056
Gene: ENSMUSG00000023286
AA Change: E177G

Domain	Start	End	E-Value	Type
UBCc	27	181	3.22e-31	SMART
low complexity region	218	234	N/A	INTRINSIC
Blast:UBCc	235	270	7e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000103175
AA Change: E165G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099464
Gene: ENSMUSG00000023286
AA Change: E165G

Domain	Start	End	E-Value	Type
UBCc	15	169	3.22e-31	SMART
low complexity region	206	222	N/A	INTRINSIC
Blast:UBCc	223	258	7e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000105581
AA Change: E165G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101206
Gene: ENSMUSG00000023286
AA Change: E165G

Domain	Start	End	E-Value	Type
UBCc	15	169	3.22e-31	SMART
low complexity region	206	222	N/A	INTRINSIC
Blast:UBCc	223	258	7e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105582
AA Change: E177G

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101207
Gene: ENSMUSG00000023286
AA Change: E177G

Domain	Start	End	E-Value	Type
UBCc	27	181	3.22e-31	SMART
low complexity region	218	234	N/A	INTRINSIC
Blast:UBCc	235	270	7e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105583
AA Change: E177G

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101208
Gene: ENSMUSG00000023286
AA Change: E177G

Domain	Start	End	E-Value	Type
UBCc	27	181	3.22e-31	SMART
low complexity region	218	234	N/A	INTRINSIC
Blast:UBCc	235	270	7e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000118192

SMART Domains

Protein: ENSMUSP00000112785
Gene: ENSMUSG00000023286

Domain	Start	End	E-Value	Type
UBCc	15	153	5.28e-27	SMART
low complexity region	179	195	N/A	INTRINSIC
transmembrane domain	200	222	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124092

Predicted Effect

probably benign
Transcript: ENSMUST00000152536
AA Change: E113G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114235
Gene: ENSMUSG00000023286
AA Change: E113G

Domain	Start	End	E-Value	Type
UBCc	2	117	5.4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166489
AA Change: E165G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000127712
Gene: ENSMUSG00000023286
AA Change: E165G

Domain	Start	End	E-Value	Type
UBCc	15	169	3.22e-31	SMART
low complexity region	206	222	N/A	INTRINSIC
Blast:UBCc	223	258	7e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151892

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 located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	A	5: 35,981,359 (GRCm39)		probably benign	Het
Ash1l	T	C	3: 88,942,543 (GRCm39)	V2061A	probably damaging	Het
Csnk1a1	A	G	18: 61,708,521 (GRCm39)	D194G	probably damaging	Het
Dop1b	T	A	16: 93,570,971 (GRCm39)	S1657T	possibly damaging	Het
Hcn4	A	G	9: 58,751,210 (GRCm39)	I279V	probably benign	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Lamb1	T	C	12: 31,352,926 (GRCm39)	S828P	probably damaging	Het
Morc1	G	A	16: 48,272,952 (GRCm39)	C193Y	probably damaging	Het
Nudt16l1	T	C	16: 4,757,299 (GRCm39)	F71L	probably benign	Het
Nup50	T	G	15: 84,822,621 (GRCm39)	L381*	probably null	Het
Pccb	A	G	9: 100,867,922 (GRCm39)	S372P	probably damaging	Het
Rnf19b	A	G	4: 128,965,582 (GRCm39)	R227G	probably damaging	Het
Ror1	A	G	4: 100,298,423 (GRCm39)	I599V	probably benign	Het
Sipa1l2	A	G	8: 126,191,174 (GRCm39)		probably benign	Het
Sowahb	A	T	5: 93,191,701 (GRCm39)	D339E	probably benign	Het
Ssc5d	C	T	7: 4,939,280 (GRCm39)	T572I	possibly damaging	Het
Tnn	A	G	1: 159,975,100 (GRCm39)	L109P	probably damaging	Het
Ttn	T	C	2: 76,540,425 (GRCm39)	Q34187R	possibly damaging	Het
Vmn2r103	A	G	17: 20,015,227 (GRCm39)	T456A	probably benign	Het
Wdr1	T	C	5: 38,692,666 (GRCm39)	T80A	probably benign	Het

Other mutations in Ube2j2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Ube2j2	APN	4	156,030,834 (GRCm39)	intron	probably benign
IGL00953:Ube2j2	APN	4	156,030,834 (GRCm39)	intron	probably benign
IGL01732:Ube2j2	APN	4	156,041,788 (GRCm39)	missense	probably damaging	1.00
IGL02709:Ube2j2	APN	4	156,041,788 (GRCm39)	missense	probably damaging	1.00
R1903:Ube2j2	UTSW	4	156,033,483 (GRCm39)	missense	probably benign	0.13
R4172:Ube2j2	UTSW	4	156,033,543 (GRCm39)	missense	probably damaging	1.00
R4630:Ube2j2	UTSW	4	156,039,715 (GRCm39)	missense	probably damaging	0.98
R4632:Ube2j2	UTSW	4	156,039,715 (GRCm39)	missense	probably damaging	0.98
R4999:Ube2j2	UTSW	4	156,030,841 (GRCm39)	start codon destroyed	probably null
R5000:Ube2j2	UTSW	4	156,030,841 (GRCm39)	start codon destroyed	probably null
R5249:Ube2j2	UTSW	4	156,033,515 (GRCm39)	missense	possibly damaging	0.85
R7225:Ube2j2	UTSW	4	156,033,773 (GRCm39)	splice site	probably null
R7436:Ube2j2	UTSW	4	156,041,788 (GRCm39)	missense	probably damaging	1.00
R7688:Ube2j2	UTSW	4	156,040,885 (GRCm39)	missense	probably damaging	0.98
R7995:Ube2j2	UTSW	4	156,041,795 (GRCm39)	nonsense	probably null

Posted On

2013-04-17