Incidental Mutation 'IGL03126:Ube2u'
| ID |
410158 |
| 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 # |
IGL03126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
100336064-100407342 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to T
at 100407199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tyrosine
at position 353
(*353Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092730]
[ENSMUST00000133493]
|
| AlphaFold |
B1AUC4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000092730
AA Change: *240Y
|
| SMART Domains |
Protein: ENSMUSP00000090406
Gene: ENSMUSG00000069733
AA Change: *240Y
| 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 null
Transcript: ENSMUST00000133493
AA Change: *353Y
|
| SMART Domains |
Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
AA Change: *353Y
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,617,563 (GRCm39) |
N562S |
probably benign |
Het |
| Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,232,403 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Akr1c21 |
T |
C |
13: 4,627,457 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Anks3 |
T |
C |
16: 4,775,891 (GRCm39) |
T104A |
probably damaging |
Het |
| Bcl2l2 |
A |
G |
14: 55,122,224 (GRCm39) |
Y129C |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,391,207 (GRCm39) |
K875I |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,067,127 (GRCm39) |
V15A |
probably benign |
Het |
| Dnaaf9 |
A |
T |
2: 130,633,915 (GRCm39) |
|
probably null |
Het |
| Elmo3 |
C |
A |
8: 106,033,013 (GRCm39) |
R66S |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,779,717 (GRCm39) |
S565P |
probably benign |
Het |
| Epn1 |
C |
A |
7: 5,098,684 (GRCm39) |
A370E |
probably benign |
Het |
| Esrrg |
T |
C |
1: 187,730,184 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
G |
6: 92,042,145 (GRCm39) |
L1034R |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,573,135 (GRCm39) |
V567A |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| H3c3 |
T |
C |
13: 23,929,425 (GRCm39) |
K19R |
possibly damaging |
Het |
| Hsd17b14 |
T |
C |
7: 45,205,503 (GRCm39) |
F38S |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,941,703 (GRCm39) |
V712A |
possibly damaging |
Het |
| Mep1b |
T |
C |
18: 21,221,617 (GRCm39) |
F189S |
probably damaging |
Het |
| Mill1 |
T |
C |
7: 17,989,832 (GRCm39) |
V38A |
probably benign |
Het |
| Niban2 |
C |
T |
2: 32,766,398 (GRCm39) |
R13W |
possibly damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,290 (GRCm39) |
I333V |
probably benign |
Het |
| Numa1 |
G |
T |
7: 101,649,874 (GRCm39) |
E1202* |
probably null |
Het |
| Or3a1b |
C |
T |
11: 74,012,610 (GRCm39) |
A165V |
probably benign |
Het |
| Or6k6 |
A |
G |
1: 173,945,276 (GRCm39) |
I102T |
probably benign |
Het |
| Oxr1 |
A |
T |
15: 41,683,645 (GRCm39) |
Q356L |
possibly damaging |
Het |
| Prdx2 |
T |
C |
8: 85,698,198 (GRCm39) |
F130L |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,404,515 (GRCm39) |
S248R |
possibly damaging |
Het |
| Rgs19 |
A |
G |
2: 181,333,114 (GRCm39) |
S49P |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,495,075 (GRCm39) |
|
probably benign |
Het |
| Serpinb11 |
T |
C |
1: 107,307,654 (GRCm39) |
F362L |
probably damaging |
Het |
| Slamf8 |
T |
C |
1: 172,411,736 (GRCm39) |
H253R |
possibly damaging |
Het |
| Tet3 |
C |
A |
6: 83,353,769 (GRCm39) |
R829L |
probably damaging |
Het |
| Trappc8 |
A |
G |
18: 20,996,652 (GRCm39) |
L420P |
probably damaging |
Het |
| Wbp1l |
A |
C |
19: 46,632,838 (GRCm39) |
D46A |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation