Incidental Mutation 'R7688:Ube2j2'
| ID |
593195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube2j2
|
| Ensembl Gene |
ENSMUSG00000023286 |
| Gene Name |
ubiquitin-conjugating enzyme E2J 2 |
| Synonyms |
2400008G19Rik, 5730472G04Rik, Ubc6, 1200007B18Rik |
| MMRRC Submission |
045752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156028288-156044061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156040885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 171
(L171I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024056]
[ENSMUST00000103175]
[ENSMUST00000105581]
[ENSMUST00000105582]
[ENSMUST00000105583]
[ENSMUST00000118192]
[ENSMUST00000152536]
[ENSMUST00000166489]
|
| AlphaFold |
Q6P073 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024056
AA Change: L171I
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024056
Gene: ENSMUSG00000023286
AA Change: L171I
| 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
AA Change: L159I
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099464
Gene: ENSMUSG00000023286
AA Change: L159I
| 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
AA Change: L159I
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101206
Gene: ENSMUSG00000023286
AA Change: L159I
| 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: L171I
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101207
Gene: ENSMUSG00000023286
AA Change: L171I
| 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: L171I
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101208
Gene: ENSMUSG00000023286
AA Change: L171I
| 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: ENSMUST00000152536
AA Change: L107I
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114235
Gene: ENSMUSG00000023286
AA Change: L107I
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
2 |
117 |
5.4e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166489
AA Change: L159I
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127712
Gene: ENSMUSG00000023286
AA Change: L159I
| 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 |
|
| Meta Mutation Damage Score |
0.1370 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| 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 |
|---|
| Bag6 |
T |
C |
17: 35,365,868 (GRCm39) |
Y1102H |
probably damaging |
Het |
| Cldn24 |
G |
A |
8: 48,275,740 (GRCm39) |
C188Y |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,713,377 (GRCm39) |
W443R |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,088,938 (GRCm39) |
C2806S |
probably benign |
Het |
| Epb41l2 |
T |
C |
10: 25,355,036 (GRCm39) |
Y449H |
probably damaging |
Het |
| Ets1 |
T |
A |
9: 32,607,720 (GRCm39) |
I14N |
probably benign |
Het |
| F11 |
A |
T |
8: 45,703,127 (GRCm39) |
F188I |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,912,692 (GRCm39) |
V654I |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,613,135 (GRCm39) |
V369I |
probably benign |
Het |
| Focad |
T |
A |
4: 88,096,370 (GRCm39) |
Y251N |
probably damaging |
Het |
| Gm5150 |
A |
G |
3: 16,017,747 (GRCm39) |
S175P |
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,797,994 (GRCm39) |
S117T |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,234,264 (GRCm39) |
V17A |
probably benign |
Het |
| Kctd1 |
T |
G |
18: 15,107,255 (GRCm39) |
T737P |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,422,392 (GRCm39) |
V894A |
probably damaging |
Het |
| Klhl12 |
A |
T |
1: 134,416,768 (GRCm39) |
T497S |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,765,881 (GRCm39) |
V574L |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,068,623 (GRCm39) |
D774V |
|
Het |
| Leng1 |
G |
A |
7: 3,665,809 (GRCm39) |
P176L |
probably benign |
Het |
| Lig1 |
T |
C |
7: 13,023,389 (GRCm39) |
L196P |
probably benign |
Het |
| Macrod1 |
C |
A |
19: 7,174,230 (GRCm39) |
Y245* |
probably null |
Het |
| Mcf2l |
T |
A |
8: 12,998,130 (GRCm39) |
I6N |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,599,146 (GRCm39) |
D687G |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,278 (GRCm39) |
H446L |
possibly damaging |
Het |
| Oasl2 |
A |
T |
5: 115,035,909 (GRCm39) |
I62F |
probably benign |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or14a257 |
A |
G |
7: 86,138,183 (GRCm39) |
V192A |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,095,959 (GRCm39) |
F272I |
probably damaging |
Het |
| Or52e8 |
C |
A |
7: 104,624,332 (GRCm39) |
A291S |
possibly damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,465,770 (GRCm39) |
N150S |
probably benign |
Het |
| Pfkfb3 |
A |
G |
2: 11,497,450 (GRCm39) |
Y54H |
probably damaging |
Het |
| Rab25 |
A |
T |
3: 88,452,270 (GRCm39) |
|
probably null |
Het |
| Slc22a18 |
G |
A |
7: 143,033,560 (GRCm39) |
G104S |
probably damaging |
Het |
| Slc44a5 |
T |
A |
3: 153,679,437 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
A |
G |
10: 88,757,561 (GRCm39) |
Y517C |
probably damaging |
Het |
| Spata18 |
A |
G |
5: 73,809,005 (GRCm39) |
N26S |
probably benign |
Het |
| Tas2r115 |
T |
A |
6: 132,714,643 (GRCm39) |
S103C |
probably damaging |
Het |
| Tigd2 |
T |
A |
6: 59,187,382 (GRCm39) |
M83K |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,890,880 (GRCm39) |
C408S |
probably benign |
Het |
| Trbj2-3 |
T |
A |
6: 41,520,159 (GRCm39) |
S1R |
possibly damaging |
Het |
| Triobp |
T |
C |
15: 78,845,311 (GRCm39) |
|
probably null |
Het |
| Uaca |
A |
G |
9: 60,781,409 (GRCm39) |
Q1349R |
probably benign |
Het |
| Usp17ld |
C |
A |
7: 102,899,982 (GRCm39) |
G317W |
probably damaging |
Het |
| Vinac1 |
G |
A |
2: 128,880,964 (GRCm39) |
Q321* |
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,404,098 (GRCm39) |
D31V |
probably benign |
Het |
| Zfp317 |
T |
G |
9: 19,559,251 (GRCm39) |
H488Q |
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 |
|
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 |
|
R7995:Ube2j2
|
UTSW |
4 |
156,041,795 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGACACAGAACATGTTTCCTG -3'
(R):5'- AACAAGGAGGGCCTGCAATC -3'
Sequencing Primer
(F):5'- ATAGGCTGGCATTGAATCTCAGC -3'
(R):5'- GAGGGCCTGCAATCCCACTAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation