Incidental Mutation 'IGL00667:Ube2q2l'
| ID |
12598 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ube2q2l
|
| Ensembl Gene |
ENSMUSG00000045291 |
| Gene Name |
ubiquitin conjugating enzyme E2 Q2 like |
| Synonyms |
E330021D16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
IGL00667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
136377315-136392567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136377996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 278
(D278V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058713]
[ENSMUST00000203392]
[ENSMUST00000204830]
|
| AlphaFold |
Q8BW45 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058713
AA Change: D278V
PolyPhen 2
Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060726
Gene: ENSMUSG00000045291
AA Change: D278V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RWD
|
7 |
135 |
7e-63 |
BLAST |
|
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
|
UBCc
|
204 |
364 |
2.33e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203392
|
| SMART Domains |
Protein: ENSMUSP00000144858
Gene: ENSMUSG00000045291
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RWD
|
1 |
110 |
8.9e-5 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204830
AA Change: D278V
PolyPhen 2
Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145343
Gene: ENSMUSG00000045291
AA Change: D278V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RWD
|
7 |
135 |
7e-63 |
BLAST |
|
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
|
UBCc
|
204 |
364 |
2.33e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
C |
T |
14: 68,759,387 (GRCm39) |
V233I |
possibly damaging |
Het |
| Casp1 |
A |
G |
9: 5,303,756 (GRCm39) |
I281V |
probably benign |
Het |
| Casp12 |
A |
G |
9: 5,352,665 (GRCm39) |
|
probably null |
Het |
| Cd109 |
T |
C |
9: 78,592,159 (GRCm39) |
Y758H |
probably damaging |
Het |
| Cfap53 |
T |
G |
18: 74,433,263 (GRCm39) |
M116R |
probably damaging |
Het |
| Cldn17 |
A |
T |
16: 88,303,045 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,735,683 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
A |
G |
16: 95,962,612 (GRCm39) |
S438P |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,737,040 (GRCm39) |
D99G |
probably damaging |
Het |
| Zfp512b |
C |
T |
2: 181,231,526 (GRCm39) |
S208N |
probably damaging |
Het |
|
| Other mutations in Ube2q2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01701:Ube2q2l
|
APN |
6 |
136,377,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02194:Ube2q2l
|
APN |
6 |
136,378,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03266:Ube2q2l
|
APN |
6 |
136,377,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1270:Ube2q2l
|
UTSW |
6 |
136,378,785 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1893:Ube2q2l
|
UTSW |
6 |
136,378,825 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4192:Ube2q2l
|
UTSW |
6 |
136,378,435 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5371:Ube2q2l
|
UTSW |
6 |
136,378,371 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6418:Ube2q2l
|
UTSW |
6 |
136,378,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Ube2q2l
|
UTSW |
6 |
136,378,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7035:Ube2q2l
|
UTSW |
6 |
136,378,347 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7316:Ube2q2l
|
UTSW |
6 |
136,378,276 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8125:Ube2q2l
|
UTSW |
6 |
136,378,184 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8179:Ube2q2l
|
UTSW |
6 |
136,378,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Ube2q2l
|
UTSW |
6 |
136,377,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8225:Ube2q2l
|
UTSW |
6 |
136,378,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8421:Ube2q2l
|
UTSW |
6 |
136,378,350 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8784:Ube2q2l
|
UTSW |
6 |
136,378,729 (GRCm39) |
nonsense |
probably null |
|
|
R9080:Ube2q2l
|
UTSW |
6 |
136,377,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9103:Ube2q2l
|
UTSW |
6 |
136,378,011 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9279:Ube2q2l
|
UTSW |
6 |
136,377,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation