Incidental Mutation 'IGL00951:Ube2j2'
| ID |
278108 |
| 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 # |
IGL00951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
156028288-156044061 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 156030834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024056]
[ENSMUST00000103175]
[ENSMUST00000105581]
[ENSMUST00000105582]
[ENSMUST00000105583]
[ENSMUST00000118192]
[ENSMUST00000136492]
[ENSMUST00000152536]
[ENSMUST00000166489]
|
| AlphaFold |
Q6P073 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024056
|
| SMART Domains |
Protein: ENSMUSP00000024056
Gene: ENSMUSG00000023286
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099464
Gene: ENSMUSG00000023286
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101206
Gene: ENSMUSG00000023286
| 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: ENSMUST00000105582
|
| SMART Domains |
Protein: ENSMUSP00000101207
Gene: ENSMUSG00000023286
| 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: ENSMUST00000105583
|
| SMART Domains |
Protein: ENSMUSP00000101208
Gene: ENSMUSG00000023286
| 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 |
probably benign
Transcript: ENSMUST00000136492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150846
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166489
|
| SMART Domains |
Protein: ENSMUSP00000127712
Gene: ENSMUSG00000023286
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
C |
A |
9: 99,387,757 (GRCm39) |
R388L |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,901,481 (GRCm39) |
E407G |
probably damaging |
Het |
| Brms1l |
A |
G |
12: 55,912,834 (GRCm39) |
I276V |
possibly damaging |
Het |
| Brpf1 |
C |
A |
6: 113,299,514 (GRCm39) |
D1182E |
probably damaging |
Het |
| Clpb |
A |
G |
7: 101,400,467 (GRCm39) |
M268V |
probably benign |
Het |
| Cpne8 |
A |
T |
15: 90,486,096 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
T |
9: 35,464,131 (GRCm39) |
|
probably null |
Het |
| Dgki |
A |
G |
6: 36,977,094 (GRCm39) |
M672T |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,371,620 (GRCm39) |
T112A |
possibly damaging |
Het |
| Galnt7 |
A |
T |
8: 58,036,858 (GRCm39) |
M177K |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
| Hp |
T |
C |
8: 110,304,129 (GRCm39) |
D24G |
possibly damaging |
Het |
| Jak2 |
A |
G |
19: 29,276,983 (GRCm39) |
R847G |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,906,281 (GRCm39) |
D2391E |
probably benign |
Het |
| Mpzl1 |
A |
G |
1: 165,433,391 (GRCm39) |
F87L |
probably damaging |
Het |
| Ms4a4d |
A |
T |
19: 11,532,285 (GRCm39) |
I144F |
probably benign |
Het |
| Or5h18 |
G |
A |
16: 58,848,216 (GRCm39) |
T18I |
probably benign |
Het |
| Or5h23 |
A |
C |
16: 58,906,756 (GRCm39) |
L30R |
possibly damaging |
Het |
| Or5i1 |
A |
T |
2: 87,612,883 (GRCm39) |
I2F |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,581 (GRCm39) |
S2P |
probably damaging |
Het |
| Or6d14 |
G |
A |
6: 116,534,027 (GRCm39) |
V214I |
probably benign |
Het |
| Prr16 |
A |
G |
18: 51,436,411 (GRCm39) |
R297G |
probably damaging |
Het |
| Ralgps1 |
A |
C |
2: 33,163,614 (GRCm39) |
L148V |
probably damaging |
Het |
| Rara |
A |
G |
11: 98,858,992 (GRCm39) |
D150G |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,559,512 (GRCm39) |
V64D |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,019,348 (GRCm39) |
Y742H |
probably damaging |
Het |
| Rpl7a |
A |
G |
2: 26,802,441 (GRCm39) |
D160G |
possibly damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,705,568 (GRCm39) |
M461V |
possibly damaging |
Het |
| Tagln |
T |
A |
9: 45,842,170 (GRCm39) |
N141I |
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 40,468,913 (GRCm39) |
R248* |
probably null |
Het |
| Ulk1 |
A |
G |
5: 110,940,270 (GRCm39) |
C384R |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 187,995,662 (GRCm39) |
E144D |
probably benign |
Het |
| Vkorc1l1 |
C |
T |
5: 130,011,108 (GRCm39) |
T144I |
probably benign |
Het |
| Zfp235 |
T |
C |
7: 23,836,505 (GRCm39) |
F17S |
probably damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation