Incidental Mutation 'IGL02709:Ube2j2'
| ID |
304496 |
| 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 # |
IGL02709
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
156028288-156044061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156041788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 249
(V249A)
|
| 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: V261A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024056
Gene: ENSMUSG00000023286
AA Change: V261A
| 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: V249A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099464
Gene: ENSMUSG00000023286
AA Change: V249A
| 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: V249A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101206
Gene: ENSMUSG00000023286
AA Change: V249A
| 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: V261A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101207
Gene: ENSMUSG00000023286
AA Change: V261A
| 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: V261A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101208
Gene: ENSMUSG00000023286
AA Change: V261A
| 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: V222A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112785
Gene: ENSMUSG00000023286
AA Change: V222A
| 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: V249A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127712
Gene: ENSMUSG00000023286
AA Change: V249A
| 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: ENSMUST00000124092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151892
|
| 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 |
|
| Meta Mutation Damage Score |
0.3182 |
| 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 |
|---|
| Aadacl2fm2 |
A |
G |
3: 59,654,619 (GRCm39) |
Y151C |
probably damaging |
Het |
| Aco1 |
G |
A |
4: 40,180,199 (GRCm39) |
V367M |
possibly damaging |
Het |
| Acsm5 |
G |
A |
7: 119,134,041 (GRCm39) |
W274* |
probably null |
Het |
| Ago1 |
G |
A |
4: 126,347,433 (GRCm39) |
Q135* |
probably null |
Het |
| Bmpr1b |
A |
T |
3: 141,562,314 (GRCm39) |
L291Q |
probably damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,002,879 (GRCm39) |
Y731H |
probably damaging |
Het |
| Clrn2 |
A |
G |
5: 45,617,495 (GRCm39) |
N122S |
probably damaging |
Het |
| Col4a3 |
G |
T |
1: 82,656,833 (GRCm39) |
G751W |
unknown |
Het |
| Ctsc |
C |
T |
7: 87,957,347 (GRCm39) |
A294V |
probably damaging |
Het |
| Cyp26a1 |
T |
C |
19: 37,688,426 (GRCm39) |
L316P |
probably damaging |
Het |
| Dennd6b |
A |
T |
15: 89,075,125 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,850,809 (GRCm39) |
Y1659* |
probably null |
Het |
| Dspp |
A |
C |
5: 104,325,116 (GRCm39) |
D493A |
unknown |
Het |
| Dyrk1a |
C |
T |
16: 94,486,102 (GRCm39) |
A445V |
probably benign |
Het |
| E030025P04Rik |
C |
A |
11: 109,030,324 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,872,699 (GRCm39) |
S201P |
possibly damaging |
Het |
| Foxd4 |
T |
C |
19: 24,876,973 (GRCm39) |
H409R |
probably damaging |
Het |
| Fubp3 |
A |
G |
2: 31,485,343 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,404,962 (GRCm39) |
K4511E |
probably damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Map1lc3b |
T |
A |
8: 122,322,768 (GRCm39) |
L82Q |
probably damaging |
Het |
| Mcc |
A |
T |
18: 44,578,877 (GRCm39) |
S844T |
possibly damaging |
Het |
| Mccc1 |
A |
T |
3: 36,044,888 (GRCm39) |
*85K |
probably null |
Het |
| Memo1 |
G |
A |
17: 74,552,027 (GRCm39) |
L90F |
probably damaging |
Het |
| Mfrp |
A |
G |
9: 44,014,561 (GRCm39) |
H236R |
probably benign |
Het |
| Mmrn1 |
G |
A |
6: 60,950,030 (GRCm39) |
D327N |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,392,697 (GRCm39) |
E3178G |
probably damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,304,886 (GRCm39) |
|
probably benign |
Het |
| Pros1 |
T |
C |
16: 62,719,308 (GRCm39) |
L110P |
probably damaging |
Het |
| Reck |
A |
G |
4: 43,913,791 (GRCm39) |
Y215C |
probably damaging |
Het |
| Ripk4 |
T |
C |
16: 97,544,766 (GRCm39) |
D627G |
probably damaging |
Het |
| Rnf144a |
G |
T |
12: 26,371,009 (GRCm39) |
H151N |
probably damaging |
Het |
| Slc39a9 |
T |
A |
12: 80,713,421 (GRCm39) |
H106Q |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,682,029 (GRCm39) |
|
probably benign |
Het |
| Sympk |
T |
G |
7: 18,781,463 (GRCm39) |
H806Q |
probably benign |
Het |
| Tars2 |
C |
A |
3: 95,649,383 (GRCm39) |
|
probably benign |
Het |
| Thap3 |
T |
A |
4: 152,070,169 (GRCm39) |
H75L |
probably damaging |
Het |
| Trappc8 |
T |
C |
18: 20,970,235 (GRCm39) |
I918M |
possibly damaging |
Het |
| Ubqln3 |
T |
G |
7: 103,790,543 (GRCm39) |
T516P |
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,466,238 (GRCm39) |
S1810P |
probably benign |
Het |
| Vmn1r4 |
T |
A |
6: 56,933,524 (GRCm39) |
Y9* |
probably null |
Het |
| Vmn1r89 |
T |
A |
7: 12,954,131 (GRCm39) |
M221K |
probably damaging |
Het |
| Vmn2r1 |
G |
T |
3: 64,012,355 (GRCm39) |
V739F |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,816,723 (GRCm39) |
R286Q |
possibly damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,325,711 (GRCm39) |
Y110N |
possibly damaging |
Het |
| Zbtb48 |
T |
C |
4: 152,105,851 (GRCm39) |
H418R |
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 |
|
|
IGL00953:Ube2j2
|
APN |
4 |
156,030,834 (GRCm39) |
intron |
probably benign |
|
|
IGL01732: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