Mutagenetix > Incidental Mutation

Incidental Mutation 'R4172:Ube2j2'

318167

Institutional Source

Beutler Lab

Gene Symbol

Ube2j2

Ensembl Gene

ENSMUSG00000023286

Gene Name

ubiquitin-conjugating enzyme E2J 2

Synonyms

2400008G19Rik, 5730472G04Rik, Ubc6, 1200007B18Rik

MMRRC Submission

044391-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156028288-156044061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156033543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 39 (D39G)

Ref Sequence

ENSEMBL: ENSMUSP00000101208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024056] [ENSMUST00000103175] [ENSMUST00000105581] [ENSMUST00000105582] [ENSMUST00000105583] [ENSMUST00000118192] [ENSMUST00000136492] [ENSMUST00000166489] [ENSMUST00000152536]

AlphaFold

Q6P073

Predicted Effect

probably damaging
Transcript: ENSMUST00000024056
AA Change: D39G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024056
Gene: ENSMUSG00000023286
AA Change: D39G

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 damaging
Transcript: ENSMUST00000103175
AA Change: D27G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099464
Gene: ENSMUSG00000023286
AA Change: D27G

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 damaging
Transcript: ENSMUST00000105581
AA Change: D27G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101206
Gene: ENSMUSG00000023286
AA Change: D27G

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 damaging
Transcript: ENSMUST00000105582
AA Change: D39G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101207
Gene: ENSMUSG00000023286
AA Change: D39G

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 damaging
Transcript: ENSMUST00000105583
AA Change: D39G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101208
Gene: ENSMUSG00000023286
AA Change: D39G

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 damaging
Transcript: ENSMUST00000118192
AA Change: D27G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112785
Gene: ENSMUSG00000023286
AA Change: D27G

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

probably damaging
Transcript: ENSMUST00000136492
AA Change: D27G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150846

Predicted Effect

probably damaging
Transcript: ENSMUST00000166489
AA Change: D27G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127712
Gene: ENSMUSG00000023286
AA Change: D27G

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: ENSMUST00000138218

Predicted Effect

probably benign
Transcript: ENSMUST00000152536

SMART Domains

Protein: ENSMUSP00000114235
Gene: ENSMUSG00000023286

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akip1	C	T	7: 109,306,716 (GRCm39)	Q138*	probably null	Het
Cdc5l	A	G	17: 45,730,698 (GRCm39)	I196T	probably damaging	Het
Dnah7b	G	T	1: 46,266,106 (GRCm39)	R2225L	probably damaging	Het
Gfra2	C	A	14: 71,133,521 (GRCm39)	T117K	possibly damaging	Het
Gle1	T	C	2: 29,828,538 (GRCm39)	I120T	probably benign	Het
Guf1	T	A	5: 69,715,572 (GRCm39)	N52K	possibly damaging	Het
Helq	T	C	5: 100,919,713 (GRCm39)	K813E	probably benign	Het
Ighv7-4	A	T	12: 114,186,635 (GRCm39)	F46I	probably damaging	Het
Il6st	G	A	13: 112,631,861 (GRCm39)	D467N	probably benign	Het
Jak1	C	A	4: 101,016,329 (GRCm39)	V812L	probably benign	Het
Kank4	G	T	4: 98,667,358 (GRCm39)	T363K	probably damaging	Het
Lcat	C	A	8: 106,669,059 (GRCm39)	W72L	possibly damaging	Het
Map2	T	C	1: 66,452,759 (GRCm39)	S392P	possibly damaging	Het
Mtmr2	T	C	9: 13,711,358 (GRCm39)	F456L	probably damaging	Het
Myh8	A	T	11: 67,183,247 (GRCm39)	R709W	probably damaging	Het
Nop14	T	C	5: 34,807,951 (GRCm39)	N337S	probably damaging	Het
Npbwr1	A	G	1: 5,987,155 (GRCm39)	Y120H	probably damaging	Het
Or4c58	T	G	2: 89,675,122 (GRCm39)	D65A	probably damaging	Het
Oxsm	A	T	14: 16,242,079 (GRCm38)	V230E	probably damaging	Het
Paox	G	A	7: 139,713,941 (GRCm39)	G234R	probably damaging	Het
Polq	C	T	16: 36,881,120 (GRCm39)	H1095Y	probably benign	Het
Rad51c	T	C	11: 87,293,572 (GRCm39)	T77A	probably damaging	Het
Ryr3	C	A	2: 112,624,815 (GRCm39)	V2202F	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Snx27	T	C	3: 94,410,794 (GRCm39)	H452R	probably benign	Het
Son	C	T	16: 91,456,250 (GRCm39)	H1666Y	probably damaging	Het
Spata25	C	A	2: 164,669,408 (GRCm39)	W201L	possibly damaging	Het
Spint2	A	G	7: 28,963,097 (GRCm39)	V67A	probably damaging	Het
Srgap1	T	C	10: 121,691,268 (GRCm39)	Y322C	probably benign	Het
Synm	T	C	7: 67,385,109 (GRCm39)	Y409C	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tpm1	T	C	9: 66,930,649 (GRCm39)	N283D	probably benign	Het
Trpv6	T	C	6: 41,602,432 (GRCm39)	D318G	probably damaging	Het
Ubr1	C	T	2: 120,777,103 (GRCm39)		probably null	Het
Vwa5a	T	C	9: 38,635,166 (GRCm39)	F224L	probably damaging	Het
Zfp445	T	A	9: 122,681,002 (GRCm39)	M980L	probably benign	Het

Other mutations in Ube2j2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Ube2j2	APN	4	156,040,904 (GRCm39)	missense	possibly damaging	0.79
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
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

Predicted Primers

PCR Primer
(F):5'- CCGTGTTACAGGTATGAAAGTGG -3'
(R):5'- ATTGACAGGCCTCTCGAGTG -3'

Sequencing Primer
(F):5'- GGGAAGTAGAGGCATTCACTG -3'
(R):5'- GTCCATCCACAGCTGAGGAGTTAC -3'

Posted On

2015-06-10