Incidental Mutation 'IGL02194:Ube2q2l'
| ID |
283999 |
| 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: 0.256)
|
| Stock # |
IGL02194
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
136377315-136392567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136378056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 258
(Q258R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058713]
[ENSMUST00000203392]
[ENSMUST00000204830]
|
| AlphaFold |
Q8BW45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058713
AA Change: Q258R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000060726
Gene: ENSMUSG00000045291
AA Change: Q258R
| 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 |
probably benign
Transcript: ENSMUST00000204830
AA Change: Q258R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000145343
Gene: ENSMUSG00000045291
AA Change: Q258R
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,828,812 (GRCm39) |
Q230* |
probably null |
Het |
| Akap5 |
C |
T |
12: 76,374,807 (GRCm39) |
P80S |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,606 (GRCm39) |
M366K |
probably benign |
Het |
| Ankef1 |
T |
A |
2: 136,392,429 (GRCm39) |
D539E |
probably benign |
Het |
| Anxa11 |
A |
G |
14: 25,870,553 (GRCm39) |
D39G |
unknown |
Het |
| Atp13a4 |
G |
T |
16: 29,275,447 (GRCm39) |
H346N |
probably damaging |
Het |
| Btnl1 |
A |
C |
17: 34,598,509 (GRCm39) |
T42P |
possibly damaging |
Het |
| Cul3 |
T |
A |
1: 80,300,754 (GRCm39) |
Y29F |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,638,544 (GRCm39) |
|
probably benign |
Het |
| Det1 |
A |
T |
7: 78,489,912 (GRCm39) |
V371E |
probably benign |
Het |
| Duoxa2 |
C |
A |
2: 122,132,330 (GRCm39) |
A248D |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,885 (GRCm39) |
I806K |
probably benign |
Het |
| Fam76b |
G |
T |
9: 13,744,274 (GRCm39) |
G124W |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,211,341 (GRCm39) |
E117G |
probably benign |
Het |
| Ighv15-2 |
T |
C |
12: 114,528,341 (GRCm39) |
I70V |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,973,385 (GRCm39) |
T768A |
probably benign |
Het |
| Itih1 |
A |
C |
14: 30,652,322 (GRCm39) |
D786E |
probably benign |
Het |
| Krt15 |
A |
G |
11: 100,022,839 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,857,746 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
G |
T |
17: 12,467,882 (GRCm39) |
Q1051K |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,482,815 (GRCm39) |
P634H |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,250,343 (GRCm39) |
D21G |
probably benign |
Het |
| Mre11a |
T |
C |
9: 14,726,505 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mzf1 |
T |
A |
7: 12,777,647 (GRCm39) |
T665S |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,262 (GRCm39) |
I46N |
possibly damaging |
Het |
| Otx2 |
A |
T |
14: 48,898,850 (GRCm39) |
V52D |
possibly damaging |
Het |
| Rnf157 |
C |
T |
11: 116,237,858 (GRCm39) |
|
probably null |
Het |
| Ssxa1 |
T |
A |
X: 20,987,394 (GRCm39) |
I115N |
unknown |
Het |
|
| Other mutations in Ube2q2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00667:Ube2q2l
|
APN |
6 |
136,377,996 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01701:Ube2q2l
|
APN |
6 |
136,377,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation