Incidental Mutation 'IGL03190:Ube2o'
| ID |
412621 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ube2o
|
| Ensembl Gene |
ENSMUSG00000020802 |
| Gene Name |
ubiquitin-conjugating enzyme E2O |
| Synonyms |
B230113M03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.823)
|
| Stock # |
IGL03190
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116435954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 353
(P353L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082152]
|
| AlphaFold |
Q6ZPJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082152
AA Change: P353L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: P353L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
705 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
737 |
N/A |
INTRINSIC |
|
coiled coil region
|
845 |
879 |
N/A |
INTRINSIC |
|
UBCc
|
953 |
1110 |
2.23e-16 |
SMART |
|
Blast:UBCc
|
1201 |
1274 |
1e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147851
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased MEF proliferation and transformation and increased pre-weaning lethality. Mice heterozygous for the allele exhibit increased total body fat amount, increased startle reflex, increased grip strength and increased circulating HDL cholesterol. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,016,510 (GRCm39) |
C314S |
probably damaging |
Het |
| Agr2 |
T |
A |
12: 36,048,634 (GRCm39) |
I128N |
probably damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,496,412 (GRCm39) |
I91T |
possibly damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,990,909 (GRCm39) |
I221V |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,141,766 (GRCm39) |
M1129K |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,031,491 (GRCm39) |
Q670L |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,806,185 (GRCm39) |
Y483C |
probably damaging |
Het |
| Bcan |
A |
T |
3: 87,900,357 (GRCm39) |
|
probably benign |
Het |
| Bcl11a |
G |
A |
11: 24,108,333 (GRCm39) |
E104K |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,673,208 (GRCm39) |
Q368* |
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,267,037 (GRCm39) |
Y71N |
probably benign |
Het |
| Cul2 |
C |
T |
18: 3,429,634 (GRCm39) |
T498I |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,390 (GRCm39) |
D3014G |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,445,636 (GRCm39) |
|
probably benign |
Het |
| Il36g |
C |
A |
2: 24,077,272 (GRCm39) |
S28* |
probably null |
Het |
| Itgb3bp |
A |
G |
4: 99,677,923 (GRCm39) |
|
probably benign |
Het |
| Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
| Klk1b26 |
T |
C |
7: 43,662,151 (GRCm39) |
F3S |
possibly damaging |
Het |
| Lin52 |
T |
C |
12: 84,504,732 (GRCm39) |
V39A |
probably damaging |
Het |
| Magt1 |
A |
C |
X: 105,032,622 (GRCm39) |
N242K |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,588,627 (GRCm39) |
M1118V |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,734 (GRCm39) |
M136K |
probably damaging |
Het |
| Or6k2 |
T |
C |
1: 173,987,110 (GRCm39) |
V257A |
probably damaging |
Het |
| Paqr5 |
A |
C |
9: 61,880,084 (GRCm39) |
L56R |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,396 (GRCm39) |
F452S |
probably damaging |
Het |
| Prdm5 |
T |
A |
6: 65,833,116 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
A |
G |
12: 100,524,907 (GRCm39) |
|
probably benign |
Het |
| Slc22a5 |
A |
G |
11: 53,765,840 (GRCm39) |
F249L |
probably benign |
Het |
| Spata31f1a |
C |
A |
4: 42,848,362 (GRCm39) |
G1265C |
probably benign |
Het |
| Ttll2 |
T |
C |
17: 7,618,779 (GRCm39) |
K383E |
probably benign |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,110 (GRCm39) |
D174G |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,192,643 (GRCm39) |
|
probably null |
Het |
| Xpnpep2 |
T |
A |
X: 47,207,205 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
T |
A |
4: 90,111,994 (GRCm39) |
S45T |
possibly damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,855 (GRCm39) |
|
probably benign |
Het |
| Zfyve19 |
G |
A |
2: 119,046,717 (GRCm39) |
A304T |
probably damaging |
Het |
|
| Other mutations in Ube2o |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Ube2o
|
APN |
11 |
116,435,580 (GRCm39) |
missense |
probably benign |
|
|
IGL00973:Ube2o
|
APN |
11 |
116,432,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01291:Ube2o
|
APN |
11 |
116,430,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01804:Ube2o
|
APN |
11 |
116,435,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02138:Ube2o
|
APN |
11 |
116,434,226 (GRCm39) |
splice site |
probably benign |
|
|
IGL02317:Ube2o
|
APN |
11 |
116,432,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02515:Ube2o
|
APN |
11 |
116,434,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02535:Ube2o
|
APN |
11 |
116,432,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03062:Ube2o
|
APN |
11 |
116,432,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03145:Ube2o
|
APN |
11 |
116,434,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Delay
|
UTSW |
11 |
116,430,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Tarry
|
UTSW |
11 |
116,432,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU05:Ube2o
|
UTSW |
11 |
116,430,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0519:Ube2o
|
UTSW |
11 |
116,437,285 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0666:Ube2o
|
UTSW |
11 |
116,433,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1056:Ube2o
|
UTSW |
11 |
116,437,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1202:Ube2o
|
UTSW |
11 |
116,432,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Ube2o
|
UTSW |
11 |
116,434,558 (GRCm39) |
missense |
probably benign |
|
|
R1469:Ube2o
|
UTSW |
11 |
116,436,650 (GRCm39) |
splice site |
probably benign |
|
|
R1720:Ube2o
|
UTSW |
11 |
116,435,433 (GRCm39) |
missense |
probably benign |
|
|
R1791:Ube2o
|
UTSW |
11 |
116,432,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1893:Ube2o
|
UTSW |
11 |
116,439,661 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1997:Ube2o
|
UTSW |
11 |
116,436,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2156:Ube2o
|
UTSW |
11 |
116,471,972 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2199:Ube2o
|
UTSW |
11 |
116,435,571 (GRCm39) |
missense |
probably benign |
|
|
R2414:Ube2o
|
UTSW |
11 |
116,439,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3766:Ube2o
|
UTSW |
11 |
116,437,689 (GRCm39) |
splice site |
probably benign |
|
|
R4749:Ube2o
|
UTSW |
11 |
116,432,734 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5213:Ube2o
|
UTSW |
11 |
116,432,285 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5403:Ube2o
|
UTSW |
11 |
116,439,633 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5441:Ube2o
|
UTSW |
11 |
116,435,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5727:Ube2o
|
UTSW |
11 |
116,430,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6125:Ube2o
|
UTSW |
11 |
116,435,576 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6125:Ube2o
|
UTSW |
11 |
116,432,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6234:Ube2o
|
UTSW |
11 |
116,430,316 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6278:Ube2o
|
UTSW |
11 |
116,430,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324:Ube2o
|
UTSW |
11 |
116,430,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6346:Ube2o
|
UTSW |
11 |
116,432,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6389:Ube2o
|
UTSW |
11 |
116,439,684 (GRCm39) |
missense |
probably null |
0.72 |
|
R7040:Ube2o
|
UTSW |
11 |
116,432,686 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7072:Ube2o
|
UTSW |
11 |
116,432,327 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7270:Ube2o
|
UTSW |
11 |
116,434,761 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7420:Ube2o
|
UTSW |
11 |
116,430,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Ube2o
|
UTSW |
11 |
116,471,905 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7818:Ube2o
|
UTSW |
11 |
116,434,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7916:Ube2o
|
UTSW |
11 |
116,471,884 (GRCm39) |
missense |
probably benign |
|
|
R8212:Ube2o
|
UTSW |
11 |
116,439,624 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8679:Ube2o
|
UTSW |
11 |
116,432,273 (GRCm39) |
nonsense |
probably null |
|
|
R9085:Ube2o
|
UTSW |
11 |
116,436,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9221:Ube2o
|
UTSW |
11 |
116,433,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Ube2o
|
UTSW |
11 |
116,471,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9388:Ube2o
|
UTSW |
11 |
116,430,210 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9569:Ube2o
|
UTSW |
11 |
116,434,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Ube2o
|
UTSW |
11 |
116,434,779 (GRCm39) |
missense |
probably benign |
|
|
R9689:Ube2o
|
UTSW |
11 |
116,435,639 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2016-08-02 |
Incidental Mutation