Incidental Mutation 'IGL01732:Ube2j2'
| ID |
105544 |
| 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)
|
| Stock # |
IGL01732
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
156028288-156044061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 156041788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 249
(V249G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024056]
[ENSMUST00000024338]
[ENSMUST00000103175]
[ENSMUST00000105581]
[ENSMUST00000105582]
[ENSMUST00000105583]
[ENSMUST00000118192]
[ENSMUST00000166489]
[ENSMUST00000152536]
|
| AlphaFold |
Q6P073 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024056
AA Change: V261G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024056
Gene: ENSMUSG00000023286
AA Change: V261G
| 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: ENSMUST00000024338
|
| SMART Domains |
Protein: ENSMUSP00000024338
Gene: ENSMUSG00000023571
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
118 |
N/A |
INTRINSIC |
|
Blast:TNF
|
168 |
305 |
1e-17 |
BLAST |
|
SCOP:d1gr3a_
|
192 |
306 |
2e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103175
AA Change: V249G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099464
Gene: ENSMUSG00000023286
AA Change: V249G
| 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: V249G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101206
Gene: ENSMUSG00000023286
AA Change: V249G
| 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: V261G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101207
Gene: ENSMUSG00000023286
AA Change: V261G
| 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: V261G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101208
Gene: ENSMUSG00000023286
AA Change: V261G
| 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: V222G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112785
Gene: ENSMUSG00000023286
AA Change: V222G
| 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: ENSMUST00000166489
AA Change: V249G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127712
Gene: ENSMUSG00000023286
AA Change: V249G
| 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: ENSMUST00000151892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124092
|
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
G |
T |
4: 139,369,471 (GRCm39) |
E341* |
probably null |
Het |
| Alpk3 |
A |
G |
7: 80,707,390 (GRCm39) |
R5G |
unknown |
Het |
| Arhgef10l |
C |
T |
4: 140,307,726 (GRCm39) |
V113M |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,852 (GRCm39) |
I1872K |
probably benign |
Het |
| Cdk17 |
C |
A |
10: 93,053,907 (GRCm39) |
P134T |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,030,517 (GRCm39) |
S35P |
possibly damaging |
Het |
| Cfap126 |
T |
C |
1: 170,954,305 (GRCm39) |
V174A |
possibly damaging |
Het |
| Cfhr1 |
T |
C |
1: 139,478,606 (GRCm39) |
T255A |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,287,606 (GRCm39) |
|
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,206,318 (GRCm39) |
E151G |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,494,747 (GRCm39) |
Q101* |
probably null |
Het |
| Eri1 |
T |
C |
8: 35,958,397 (GRCm39) |
E12G |
possibly damaging |
Het |
| Fut9 |
A |
G |
4: 25,619,867 (GRCm39) |
F316L |
possibly damaging |
Het |
| Garin1a |
A |
T |
6: 29,285,979 (GRCm39) |
H146L |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,669,396 (GRCm39) |
I816V |
probably benign |
Het |
| Itln1 |
A |
G |
1: 171,362,348 (GRCm39) |
M11T |
probably benign |
Het |
| Klc2 |
C |
T |
19: 5,159,825 (GRCm39) |
R458Q |
probably damaging |
Het |
| Lrrc8b |
A |
T |
5: 105,633,826 (GRCm39) |
E766V |
probably damaging |
Het |
| Mmadhc |
A |
T |
2: 50,171,197 (GRCm39) |
I205N |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,732,149 (GRCm39) |
I342V |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,851,195 (GRCm39) |
V796D |
probably damaging |
Het |
| Olfm3 |
A |
C |
3: 114,890,649 (GRCm39) |
D134A |
possibly damaging |
Het |
| Or3a1c |
T |
C |
11: 74,046,279 (GRCm39) |
C100R |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,446 (GRCm39) |
I248N |
probably damaging |
Het |
| Or56b2 |
T |
C |
7: 104,337,543 (GRCm39) |
M107T |
possibly damaging |
Het |
| Phldb3 |
A |
G |
7: 24,326,751 (GRCm39) |
E593G |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,589,699 (GRCm39) |
D74E |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,961,407 (GRCm39) |
D283G |
probably benign |
Het |
| Pnpla6 |
C |
A |
8: 3,572,616 (GRCm39) |
T279N |
probably damaging |
Het |
| Prkcq |
G |
A |
2: 11,265,644 (GRCm39) |
|
probably benign |
Het |
| Rbm11 |
G |
A |
16: 75,397,510 (GRCm39) |
A147T |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,487,366 (GRCm39) |
K666E |
probably damaging |
Het |
| Selenos |
A |
G |
7: 65,730,137 (GRCm39) |
Y45C |
probably damaging |
Het |
| Septin11 |
A |
G |
5: 93,309,085 (GRCm39) |
Y255C |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,199,702 (GRCm39) |
H273R |
probably benign |
Het |
| Slc35f2 |
A |
G |
9: 53,713,909 (GRCm39) |
D141G |
probably damaging |
Het |
| Sntg2 |
A |
T |
12: 30,362,648 (GRCm39) |
Y33N |
probably damaging |
Het |
| Snx19 |
C |
A |
9: 30,373,649 (GRCm39) |
T904K |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,716 (GRCm39) |
Y2244C |
probably damaging |
Het |
| Tescl |
A |
G |
7: 24,032,872 (GRCm39) |
V151A |
probably damaging |
Het |
| Tnrc18 |
C |
T |
5: 142,757,816 (GRCm39) |
V902M |
unknown |
Het |
| Trmt13 |
A |
G |
3: 116,375,113 (GRCm39) |
L465S |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,391,273 (GRCm39) |
K4737R |
unknown |
Het |
| Zc3h6 |
T |
C |
2: 128,853,795 (GRCm39) |
I430T |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,403,819 (GRCm39) |
S352L |
probably benign |
Het |
| Zfp819 |
A |
G |
7: 43,265,846 (GRCm39) |
K34E |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation