Incidental Mutation 'R3766:Ube2o'
| ID |
274719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube2o
|
| Ensembl Gene |
ENSMUSG00000020802 |
| Gene Name |
ubiquitin-conjugating enzyme E2O |
| Synonyms |
B230113M03Rik |
| MMRRC Submission |
040743-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.823)
|
| Stock # |
R3766 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 116437689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082152]
|
| AlphaFold |
Q6ZPJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082152
|
| SMART Domains |
Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
| 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: ENSMUST00000119903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147851
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
C |
T |
5: 125,583,326 (GRCm39) |
T294M |
probably damaging |
Het |
| Brf2 |
G |
T |
8: 27,614,496 (GRCm39) |
T230N |
possibly damaging |
Het |
| Ccne2 |
A |
G |
4: 11,199,293 (GRCm39) |
|
probably benign |
Het |
| Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
| Cttnbp2nl |
G |
A |
3: 104,912,117 (GRCm39) |
T589I |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,514,643 (GRCm39) |
S1091P |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,442,316 (GRCm39) |
V178A |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,003,253 (GRCm39) |
S111P |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
| Gm29394 |
C |
T |
15: 57,912,024 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,813,572 (GRCm39) |
D2601G |
probably damaging |
Het |
| Hspa13 |
T |
C |
16: 75,561,974 (GRCm39) |
D75G |
probably benign |
Het |
| Itgav |
T |
C |
2: 83,632,229 (GRCm39) |
|
probably null |
Het |
| Kif6 |
A |
T |
17: 50,065,671 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
G |
A |
1: 4,911,201 (GRCm39) |
R104Q |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,595 (GRCm39) |
K709E |
unknown |
Het |
| Or52l1 |
A |
T |
7: 104,830,088 (GRCm39) |
I159K |
probably damaging |
Het |
| Or56b1b |
G |
A |
7: 108,164,402 (GRCm39) |
P200L |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,249 (GRCm39) |
K70* |
probably null |
Het |
| Pex5l |
T |
G |
3: 33,061,327 (GRCm39) |
D174A |
probably benign |
Het |
| Plac8l1 |
A |
T |
18: 42,313,460 (GRCm39) |
M94K |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,311,757 (GRCm39) |
|
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,208,996 (GRCm39) |
T471A |
probably benign |
Het |
| Pus3 |
C |
A |
9: 35,477,968 (GRCm39) |
T400K |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,136,863 (GRCm38) |
|
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,996,057 (GRCm39) |
T569A |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,964 (GRCm39) |
Q292R |
possibly damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,722,517 (GRCm39) |
R456G |
probably damaging |
Het |
| Sox13 |
T |
C |
1: 133,318,536 (GRCm39) |
R81G |
possibly damaging |
Het |
| Spag9 |
A |
G |
11: 93,951,109 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
C |
T |
17: 88,942,788 (GRCm39) |
P65S |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
| Tcim |
T |
A |
8: 24,928,765 (GRCm39) |
R50W |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
| Trim59 |
A |
G |
3: 68,944,137 (GRCm39) |
V401A |
probably benign |
Het |
| Trpm3 |
A |
C |
19: 22,425,741 (GRCm39) |
Q32P |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,480,614 (GRCm39) |
M1018K |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uvrag |
G |
T |
7: 98,537,350 (GRCm39) |
S615* |
probably null |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,929 (GRCm39) |
I302L |
probably benign |
Het |
| Vmn2r73 |
C |
T |
7: 85,521,198 (GRCm39) |
V257I |
probably benign |
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 |
|
IGL03190:Ube2o
|
APN |
11 |
116,435,954 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCAACCTAAGTGCCTGC -3'
(R):5'- GAGCCTTTTACATCCCAATGGG -3'
Sequencing Primer
(F):5'- GTGCCTGCCATTATTAAGACATGC -3'
(R):5'- GGTGTAGAAGATCCCAGGCTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation