Incidental Mutation 'IGL00953:Ube2j2'
ID |
278112 |
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 # |
IGL00953
|
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 |
Aatk |
T |
C |
11: 119,902,047 (GRCm39) |
E726G |
probably benign |
Het |
Cdyl2 |
T |
A |
8: 117,321,928 (GRCm39) |
|
probably benign |
Het |
Cep41 |
T |
C |
6: 30,660,966 (GRCm39) |
T109A |
probably benign |
Het |
Clca3b |
C |
T |
3: 144,552,972 (GRCm39) |
W84* |
probably null |
Het |
Cyp27b1 |
A |
G |
10: 126,885,551 (GRCm39) |
D130G |
probably benign |
Het |
Cyp2f2 |
T |
C |
7: 26,829,242 (GRCm39) |
V249A |
possibly damaging |
Het |
Cyth3 |
G |
A |
5: 143,692,920 (GRCm39) |
|
probably null |
Het |
Dnah8 |
G |
T |
17: 30,925,431 (GRCm39) |
E1289* |
probably null |
Het |
Fam171a1 |
A |
T |
2: 3,179,327 (GRCm39) |
D51V |
possibly damaging |
Het |
Farp2 |
A |
G |
1: 93,488,896 (GRCm39) |
R107G |
possibly damaging |
Het |
Gemin6 |
T |
C |
17: 80,535,294 (GRCm39) |
F85L |
possibly damaging |
Het |
Hivep3 |
A |
C |
4: 119,955,571 (GRCm39) |
T1296P |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Htt |
T |
A |
5: 34,976,021 (GRCm39) |
S670T |
probably benign |
Het |
Klhl24 |
A |
T |
16: 19,941,717 (GRCm39) |
N555I |
possibly damaging |
Het |
Limd1 |
T |
A |
9: 123,308,948 (GRCm39) |
S216T |
probably benign |
Het |
Lmf2 |
A |
T |
15: 89,238,102 (GRCm39) |
I234N |
probably damaging |
Het |
Mrpl4 |
C |
A |
9: 20,919,863 (GRCm39) |
D271E |
probably benign |
Het |
Mydgf |
C |
T |
17: 56,486,407 (GRCm39) |
G75R |
probably damaging |
Het |
Nat1 |
A |
G |
8: 67,943,630 (GRCm39) |
D5G |
possibly damaging |
Het |
Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
Or5h22 |
A |
T |
16: 58,895,052 (GRCm39) |
Y130* |
probably null |
Het |
Or5k15 |
A |
C |
16: 58,710,048 (GRCm39) |
H178Q |
probably damaging |
Het |
Pla2g4c |
T |
A |
7: 13,077,951 (GRCm39) |
M363K |
probably benign |
Het |
Prex1 |
A |
G |
2: 166,480,329 (GRCm39) |
F137S |
probably damaging |
Het |
Rbm12b1 |
A |
G |
4: 12,146,038 (GRCm39) |
D670G |
probably damaging |
Het |
Rrp12 |
C |
A |
19: 41,860,231 (GRCm39) |
M997I |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,327,736 (GRCm39) |
V918A |
probably benign |
Het |
Slc35g2 |
A |
G |
9: 100,434,516 (GRCm39) |
V385A |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,590,739 (GRCm39) |
I1311N |
probably damaging |
Het |
Ucp2 |
A |
G |
7: 100,147,629 (GRCm39) |
T203A |
probably benign |
Het |
Upk1b |
C |
T |
16: 38,600,347 (GRCm39) |
G211D |
possibly damaging |
Het |
Vmn1r220 |
A |
T |
13: 23,367,935 (GRCm39) |
F254I |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,965,638 (GRCm39) |
F314S |
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 |
IGL00951: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 |