Incidental Mutation 'IGL01641:Ube2u'
| ID |
93163 |
| 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 # |
IGL01641
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
100336064-100407342 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100338854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 40
(I40V)
|
| 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
AA Change: I40V
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
AA Change: I40V
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora1 |
A |
G |
1: 134,161,852 (GRCm39) |
L81P |
probably damaging |
Het |
| Agl |
C |
A |
3: 116,578,104 (GRCm39) |
E537* |
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,784,601 (GRCm39) |
Y103C |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,259,641 (GRCm39) |
K375* |
probably null |
Het |
| Crisp4 |
C |
A |
1: 18,194,514 (GRCm39) |
A160S |
possibly damaging |
Het |
| Foxs1 |
T |
C |
2: 152,774,232 (GRCm39) |
T274A |
probably benign |
Het |
| Gm8220 |
A |
T |
14: 44,525,628 (GRCm39) |
H14L |
probably benign |
Het |
| Irak3 |
T |
C |
10: 120,012,252 (GRCm39) |
I171V |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,115,250 (GRCm39) |
I374T |
probably benign |
Het |
| Or4c10b |
G |
A |
2: 89,711,952 (GRCm39) |
A261T |
probably benign |
Het |
| Pcbp2 |
A |
G |
15: 102,382,575 (GRCm39) |
S27G |
probably damaging |
Het |
| Pcbp3 |
T |
A |
10: 76,603,691 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,950,000 (GRCm39) |
|
probably benign |
Het |
| Prickle1 |
A |
T |
15: 93,398,453 (GRCm39) |
F792I |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 64,011,924 (GRCm39) |
E595G |
probably benign |
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 |
|
IGL02633:Ube2u
|
APN |
4 |
100,339,971 (GRCm39) |
splice site |
probably benign |
|
|
IGL03126:Ube2u
|
APN |
4 |
100,407,199 (GRCm39) |
makesense |
probably null |
|
|
IGL03358:Ube2u
|
APN |
4 |
100,404,472 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-12-09 |
Incidental Mutation