Incidental Mutation 'IGL02138:Ube2o'
ID |
281436 |
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 # |
IGL02138
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 116434226 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: 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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
G |
14: 32,384,672 (GRCm39) |
D431A |
possibly damaging |
Het |
Adgrb1 |
T |
C |
15: 74,401,631 (GRCm39) |
M209T |
probably damaging |
Het |
Ano8 |
T |
C |
8: 71,937,486 (GRCm39) |
H86R |
probably damaging |
Het |
Camk1d |
G |
T |
2: 5,449,895 (GRCm39) |
Y87* |
probably null |
Het |
Capza3 |
A |
G |
6: 139,987,872 (GRCm39) |
D157G |
probably benign |
Het |
Ckmt2 |
A |
T |
13: 92,009,947 (GRCm39) |
D124E |
probably benign |
Het |
Col14a1 |
C |
A |
15: 55,284,231 (GRCm39) |
Q831K |
unknown |
Het |
Copb2 |
C |
T |
9: 98,469,605 (GRCm39) |
P829S |
probably benign |
Het |
Dlg5 |
A |
G |
14: 24,208,419 (GRCm39) |
V929A |
probably benign |
Het |
Dolk |
A |
G |
2: 30,175,991 (GRCm39) |
V18A |
probably benign |
Het |
Ecm2 |
G |
T |
13: 49,676,304 (GRCm39) |
L340F |
probably damaging |
Het |
Hacl1 |
A |
G |
14: 31,352,940 (GRCm39) |
L149P |
probably benign |
Het |
Higd2a |
A |
T |
13: 54,738,235 (GRCm39) |
|
probably null |
Het |
Hspa12a |
A |
T |
19: 58,816,730 (GRCm39) |
S28R |
probably benign |
Het |
Igkv5-37 |
A |
G |
6: 69,940,435 (GRCm39) |
Y70H |
probably damaging |
Het |
Iho1 |
G |
A |
9: 108,283,820 (GRCm39) |
T208I |
probably benign |
Het |
Kif11 |
T |
C |
19: 37,373,057 (GRCm39) |
V92A |
probably damaging |
Het |
Kif26a |
T |
C |
12: 112,141,284 (GRCm39) |
S696P |
probably damaging |
Het |
Kng1 |
A |
T |
16: 22,886,558 (GRCm39) |
N168Y |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Lepr |
A |
G |
4: 101,625,264 (GRCm39) |
D473G |
probably damaging |
Het |
Lipt1 |
G |
A |
1: 37,914,867 (GRCm39) |
E308K |
possibly damaging |
Het |
Luc7l3 |
A |
T |
11: 94,194,792 (GRCm39) |
F76Y |
probably benign |
Het |
Mapk1 |
A |
G |
16: 16,841,316 (GRCm39) |
I163V |
probably benign |
Het |
Matn3 |
A |
G |
12: 9,017,638 (GRCm39) |
E430G |
possibly damaging |
Het |
Med13 |
A |
T |
11: 86,177,591 (GRCm39) |
S1502T |
probably damaging |
Het |
Mlf1 |
A |
T |
3: 67,307,046 (GRCm39) |
H237L |
probably benign |
Het |
Mss51 |
A |
C |
14: 20,534,923 (GRCm39) |
Y282* |
probably null |
Het |
Ncoa3 |
A |
G |
2: 165,897,182 (GRCm39) |
T658A |
probably benign |
Het |
Or1p1c |
A |
T |
11: 74,160,544 (GRCm39) |
M110L |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,196 (GRCm39) |
S188T |
probably benign |
Het |
Phrf1 |
T |
A |
7: 140,839,196 (GRCm39) |
|
probably benign |
Het |
Ppme1 |
C |
T |
7: 99,983,139 (GRCm39) |
M335I |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Sntg2 |
T |
A |
12: 30,357,230 (GRCm39) |
|
probably null |
Het |
Spryd3 |
T |
C |
15: 102,027,354 (GRCm39) |
|
probably benign |
Het |
Srpx |
A |
G |
X: 9,933,662 (GRCm39) |
|
probably null |
Het |
St8sia1 |
G |
T |
6: 142,909,504 (GRCm39) |
|
probably benign |
Het |
Stab1 |
A |
G |
14: 30,865,470 (GRCm39) |
|
probably null |
Het |
Sycp2 |
A |
T |
2: 178,000,047 (GRCm39) |
S976R |
probably benign |
Het |
Sycp2 |
T |
A |
2: 178,043,783 (GRCm39) |
K108* |
probably null |
Het |
Tagap1 |
T |
C |
17: 7,223,485 (GRCm39) |
T404A |
probably damaging |
Het |
Tg |
C |
T |
15: 66,589,082 (GRCm39) |
T21I |
probably benign |
Het |
Tlr4 |
A |
T |
4: 66,759,202 (GRCm39) |
Y665F |
probably damaging |
Het |
Tmc8 |
T |
G |
11: 117,682,081 (GRCm39) |
S525A |
probably benign |
Het |
Tor4a |
A |
T |
2: 25,084,810 (GRCm39) |
D364E |
probably benign |
Het |
Trim44 |
T |
C |
2: 102,211,253 (GRCm39) |
I236V |
probably benign |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,347,300 (GRCm39) |
R3180S |
probably benign |
Het |
Zfp335 |
A |
G |
2: 164,735,724 (GRCm39) |
C1077R |
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 |
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 |
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 |
2015-04-16 |