Incidental Mutation 'R0043:Ube2u'
| ID |
16119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube2u
|
| Ensembl Gene |
ENSMUSG00000069733 |
| Gene Name |
ubiquitin-conjugating enzyme E2U (putative) |
| Synonyms |
|
| MMRRC Submission |
038337-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0043 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
100336064-100407342 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100340026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 66
(V66F)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000133493
AA Change: V66F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
AA Change: V66F
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 81.2%
- 3x: 72.1%
- 10x: 49.9%
- 20x: 30.2%
|
| Validation Efficiency |
90% (56/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
A |
G |
2: 93,672,230 (GRCm39) |
Y213H |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,106,879 (GRCm39) |
L982P |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 46,460,917 (GRCm39) |
V651E |
probably benign |
Het |
| Cstf3 |
A |
T |
2: 104,475,430 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,996,362 (GRCm39) |
D2658G |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,586,029 (GRCm39) |
S240P |
probably damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,005,574 (GRCm39) |
M3765I |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,874 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,826,101 (GRCm39) |
S304T |
probably benign |
Het |
| Gata4 |
T |
C |
14: 63,440,750 (GRCm39) |
|
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,519 (GRCm39) |
L152P |
probably benign |
Het |
| Ifi207 |
T |
A |
1: 173,556,678 (GRCm39) |
T694S |
possibly damaging |
Het |
| Kalrn |
C |
A |
16: 33,875,276 (GRCm39) |
G99W |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,495,196 (GRCm39) |
W448R |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,747,811 (GRCm39) |
Y351* |
probably null |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,302,310 (GRCm39) |
D908G |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,603,379 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,391,053 (GRCm39) |
Y102C |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,179,764 (GRCm39) |
V1281A |
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,538,764 (GRCm39) |
S794R |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,134,820 (GRCm39) |
V331E |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,722,883 (GRCm39) |
I766F |
possibly damaging |
Het |
| Spata6 |
A |
T |
4: 111,638,002 (GRCm39) |
R277S |
probably damaging |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,958,610 (GRCm39) |
|
probably benign |
Het |
| Usp42 |
A |
C |
5: 143,700,465 (GRCm39) |
V1186G |
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,077,815 (GRCm39) |
I419T |
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 |
|
|
IGL03358:Ube2u
|
APN |
4 |
100,404,472 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-01-08 |
Incidental Mutation