Incidental Mutation 'IGL03358:Ube2u'
| ID |
420027 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ube2u
|
| Ensembl Gene |
ENSMUSG00000069733 |
| Gene Name |
ubiquitin-conjugating enzyme E2U (putative) |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03358
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
100336064-100407342 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 100404472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092730]
[ENSMUST00000133493]
|
| AlphaFold |
B1AUC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092730
|
| SMART Domains |
Protein: ENSMUSP00000090406
Gene: ENSMUSG00000069733
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBCc
|
1 |
40 |
4e-17 |
BLAST |
|
coiled coil region
|
147 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133493
|
| SMART Domains |
Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
7 |
153 |
1.58e-25 |
SMART |
|
coiled coil region
|
260 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
T |
C |
16: 64,586,909 (GRCm39) |
I272V |
possibly damaging |
Het |
| 4930590J08Rik |
A |
G |
6: 91,905,716 (GRCm39) |
N496D |
probably damaging |
Het |
| Adcy2 |
C |
T |
13: 68,877,396 (GRCm39) |
G448E |
probably damaging |
Het |
| Alad |
G |
A |
4: 62,428,844 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,860 (GRCm39) |
M193K |
probably benign |
Het |
| Cd300a |
G |
A |
11: 114,788,623 (GRCm39) |
M204I |
possibly damaging |
Het |
| Cep350 |
T |
A |
1: 155,804,285 (GRCm39) |
M933L |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,507,573 (GRCm39) |
N292I |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,946,387 (GRCm39) |
I536T |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,306,958 (GRCm39) |
R898C |
probably damaging |
Het |
| Oosp2 |
A |
T |
19: 11,628,933 (GRCm39) |
L56* |
probably null |
Het |
| Pars2 |
A |
T |
4: 106,510,239 (GRCm39) |
H7L |
probably benign |
Het |
| Pbx4 |
T |
C |
8: 70,311,761 (GRCm39) |
S59P |
probably benign |
Het |
| Psg20 |
G |
T |
7: 18,414,891 (GRCm39) |
H332N |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,206,069 (GRCm39) |
E841G |
possibly damaging |
Het |
| Slc6a13 |
G |
A |
6: 121,311,495 (GRCm39) |
V384I |
probably benign |
Het |
| Spg21 |
G |
A |
9: 65,387,698 (GRCm39) |
V164I |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,935,852 (GRCm39) |
C361* |
probably null |
Het |
| Tsr1 |
T |
C |
11: 74,794,824 (GRCm39) |
V493A |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,554,989 (GRCm39) |
G79E |
probably damaging |
Het |
| Vmn1r81 |
T |
G |
7: 11,994,232 (GRCm39) |
R125S |
possibly damaging |
Het |
| Vmn2r45 |
A |
C |
7: 8,474,715 (GRCm39) |
L771R |
probably damaging |
Het |
| Vps54 |
T |
A |
11: 21,218,799 (GRCm39) |
H119Q |
probably damaging |
Het |
|
| Other mutations in Ube2u |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Ube2u
|
APN |
4 |
100,336,422 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01641:Ube2u
|
APN |
4 |
100,338,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02633:Ube2u
|
APN |
4 |
100,339,971 (GRCm39) |
splice site |
probably benign |
|
|
IGL03126:Ube2u
|
APN |
4 |
100,407,199 (GRCm39) |
makesense |
probably null |
|
|
R0043:Ube2u
|
UTSW |
4 |
100,340,026 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0102:Ube2u
|
UTSW |
4 |
100,407,122 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0102:Ube2u
|
UTSW |
4 |
100,407,122 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0110:Ube2u
|
UTSW |
4 |
100,343,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0113:Ube2u
|
UTSW |
4 |
100,338,852 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0357:Ube2u
|
UTSW |
4 |
100,338,851 (GRCm39) |
nonsense |
probably null |
|
|
R0395:Ube2u
|
UTSW |
4 |
100,338,845 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0465:Ube2u
|
UTSW |
4 |
100,389,293 (GRCm39) |
splice site |
probably benign |
|
|
R0469:Ube2u
|
UTSW |
4 |
100,343,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0788:Ube2u
|
UTSW |
4 |
100,371,937 (GRCm39) |
splice site |
probably benign |
|
|
R1958:Ube2u
|
UTSW |
4 |
100,338,833 (GRCm39) |
missense |
probably benign |
|
|
R2216:Ube2u
|
UTSW |
4 |
100,389,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2937:Ube2u
|
UTSW |
4 |
100,381,495 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4086:Ube2u
|
UTSW |
4 |
100,407,039 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4471:Ube2u
|
UTSW |
4 |
100,338,843 (GRCm39) |
nonsense |
probably null |
|
|
R4781:Ube2u
|
UTSW |
4 |
100,343,855 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6385:Ube2u
|
UTSW |
4 |
100,389,341 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6912:Ube2u
|
UTSW |
4 |
100,389,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7382:Ube2u
|
UTSW |
4 |
100,389,379 (GRCm39) |
nonsense |
probably null |
|
|
R8793:Ube2u
|
UTSW |
4 |
100,336,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9349:Ube2u
|
UTSW |
4 |
100,407,194 (GRCm39) |
missense |
unknown |
|
|
R9469:Ube2u
|
UTSW |
4 |
100,406,958 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9644:Ube2u
|
UTSW |
4 |
100,406,943 (GRCm39) |
small deletion |
probably benign |
|
|
Z1176:Ube2u
|
UTSW |
4 |
100,340,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation