Incidental Mutation 'IGL03145:Ube2o'
ID |
410866 |
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 # |
IGL03145
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116434835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 542
(E542G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080791
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082152]
|
AlphaFold |
Q6ZPJ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000082152
AA Change: E542G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080791 Gene: ENSMUSG00000020802 AA Change: E542G
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
A |
G |
10: 21,469,337 (GRCm39) |
D17G |
probably damaging |
Het |
Adam39 |
C |
T |
8: 41,277,695 (GRCm39) |
P29S |
probably benign |
Het |
Afap1l1 |
T |
C |
18: 61,874,880 (GRCm39) |
K434E |
possibly damaging |
Het |
Akap7 |
T |
C |
10: 25,115,565 (GRCm39) |
T187A |
probably damaging |
Het |
Atp7b |
A |
C |
8: 22,508,159 (GRCm39) |
I479S |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,212,593 (GRCm39) |
E1606V |
probably damaging |
Het |
Cnga3 |
A |
G |
1: 37,300,755 (GRCm39) |
S530G |
probably damaging |
Het |
Col13a1 |
A |
G |
10: 61,727,040 (GRCm39) |
Y228H |
probably benign |
Het |
Cybb |
C |
A |
X: 9,319,892 (GRCm39) |
E203* |
probably null |
Het |
Dnah6 |
A |
T |
6: 73,018,037 (GRCm39) |
M3594K |
probably damaging |
Het |
Galnt14 |
C |
A |
17: 73,811,903 (GRCm39) |
Q439H |
possibly damaging |
Het |
Gck |
T |
A |
11: 5,859,093 (GRCm39) |
D158V |
probably damaging |
Het |
Gm5624 |
A |
G |
14: 44,798,222 (GRCm39) |
M85T |
possibly damaging |
Het |
Hgsnat |
A |
T |
8: 26,436,480 (GRCm39) |
N557K |
probably damaging |
Het |
Idua |
A |
G |
5: 108,829,362 (GRCm39) |
T388A |
probably benign |
Het |
Itgam |
A |
G |
7: 127,712,191 (GRCm39) |
D692G |
probably benign |
Het |
Lrrtm3 |
A |
G |
10: 63,924,799 (GRCm39) |
Y123H |
probably benign |
Het |
Mccc1 |
C |
T |
3: 36,022,595 (GRCm39) |
R566H |
probably benign |
Het |
Myh7 |
A |
T |
14: 55,220,802 (GRCm39) |
L999Q |
probably damaging |
Het |
Myo6 |
T |
G |
9: 80,207,947 (GRCm39) |
Y1146* |
probably null |
Het |
Nr3c1 |
C |
A |
18: 39,619,313 (GRCm39) |
G325W |
probably damaging |
Het |
Or2r11 |
A |
G |
6: 42,437,434 (GRCm39) |
V173A |
probably benign |
Het |
Or5p72 |
T |
A |
7: 108,021,806 (GRCm39) |
H9Q |
probably benign |
Het |
Or7e170 |
T |
A |
9: 19,794,735 (GRCm39) |
I289F |
possibly damaging |
Het |
Phf1 |
T |
C |
17: 27,153,344 (GRCm39) |
|
probably null |
Het |
Piezo1 |
T |
C |
8: 123,209,660 (GRCm39) |
T2349A |
probably benign |
Het |
Pih1d1 |
T |
C |
7: 44,808,545 (GRCm39) |
|
probably null |
Het |
Pold3 |
A |
G |
7: 99,745,719 (GRCm39) |
S145P |
probably damaging |
Het |
Prpf38b |
G |
T |
3: 108,811,261 (GRCm39) |
|
probably benign |
Het |
Racgap1 |
A |
T |
15: 99,521,521 (GRCm39) |
M545K |
probably benign |
Het |
Safb |
T |
C |
17: 56,912,287 (GRCm39) |
Y802H |
probably damaging |
Het |
Serpina3f |
A |
T |
12: 104,183,716 (GRCm39) |
M193L |
probably benign |
Het |
Slc43a2 |
G |
A |
11: 75,459,263 (GRCm39) |
V432M |
probably benign |
Het |
Spata2l |
T |
C |
8: 123,960,075 (GRCm39) |
R405G |
possibly damaging |
Het |
Sv2c |
A |
G |
13: 96,125,606 (GRCm39) |
V377A |
probably damaging |
Het |
Tbc1d15 |
C |
T |
10: 115,038,421 (GRCm39) |
M597I |
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,492,175 (GRCm39) |
R1036S |
probably damaging |
Het |
Tjp3 |
A |
G |
10: 81,119,522 (GRCm39) |
Y15H |
probably benign |
Het |
Tkt |
A |
G |
14: 30,282,645 (GRCm39) |
|
probably benign |
Het |
Tpm2 |
T |
C |
4: 43,519,447 (GRCm39) |
E145G |
probably damaging |
Het |
Trib2 |
G |
A |
12: 15,859,932 (GRCm39) |
H110Y |
probably damaging |
Het |
Trim60 |
A |
T |
8: 65,453,224 (GRCm39) |
S342T |
probably damaging |
Het |
Usp36 |
T |
C |
11: 118,170,067 (GRCm39) |
D218G |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,227,846 (GRCm39) |
L1921P |
probably damaging |
Het |
Zfp983 |
G |
T |
17: 21,877,924 (GRCm39) |
M42I |
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 |
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 |
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 |