Incidental Mutation 'R5403:Ube2o'
ID |
430124 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube2o
|
Ensembl Gene |
ENSMUSG00000020802 |
Gene Name |
ubiquitin-conjugating enzyme E2O |
Synonyms |
B230113M03Rik |
MMRRC Submission |
042974-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.823)
|
Stock # |
R5403 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116439633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 179
(I179N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080791
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082152]
|
AlphaFold |
Q6ZPJ3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082152
AA Change: I179N
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000080791 Gene: ENSMUSG00000020802 AA Change: I179N
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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
G |
T |
17: 57,183,221 (GRCm39) |
|
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,489,323 (GRCm39) |
D392G |
possibly damaging |
Het |
Adcy8 |
C |
T |
15: 64,588,001 (GRCm39) |
V929I |
probably benign |
Het |
Alkbh8 |
A |
G |
9: 3,385,318 (GRCm39) |
K537E |
probably benign |
Het |
Anp32a |
A |
T |
9: 62,249,275 (GRCm39) |
I16F |
possibly damaging |
Het |
Asb18 |
T |
C |
1: 89,942,110 (GRCm39) |
T64A |
probably benign |
Het |
Bpifb4 |
A |
T |
2: 153,785,912 (GRCm39) |
I17F |
probably damaging |
Het |
Brd7 |
G |
T |
8: 89,084,169 (GRCm39) |
Q148K |
probably damaging |
Het |
Brinp1 |
A |
G |
4: 68,711,201 (GRCm39) |
W336R |
probably benign |
Het |
Ccdc88b |
T |
A |
19: 6,835,108 (GRCm39) |
T38S |
unknown |
Het |
Cd46 |
C |
T |
1: 194,744,719 (GRCm39) |
V340I |
possibly damaging |
Het |
Cdr2 |
G |
A |
7: 120,557,968 (GRCm39) |
Q186* |
probably null |
Het |
Ces1e |
T |
G |
8: 93,935,240 (GRCm39) |
D404A |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,239,895 (GRCm39) |
|
probably null |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
G |
A |
13: 64,909,792 (GRCm39) |
T771I |
possibly damaging |
Het |
Cops8 |
C |
T |
1: 90,534,342 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
C |
T |
4: 128,380,677 (GRCm39) |
R2078C |
probably benign |
Het |
Ddx50 |
A |
G |
10: 62,482,809 (GRCm39) |
S87P |
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,156,112 (GRCm39) |
S213P |
probably damaging |
Het |
Dlg2 |
A |
G |
7: 92,080,210 (GRCm39) |
T598A |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Epha6 |
A |
T |
16: 59,595,933 (GRCm39) |
D919E |
probably damaging |
Het |
Fndc9 |
C |
T |
11: 46,128,541 (GRCm39) |
S20L |
probably benign |
Het |
Gpx6 |
A |
G |
13: 21,501,813 (GRCm39) |
E145G |
probably damaging |
Het |
Hc |
A |
G |
2: 34,947,446 (GRCm39) |
Y23H |
probably damaging |
Het |
Insyn2b |
A |
T |
11: 34,353,058 (GRCm39) |
T367S |
probably benign |
Het |
Jmy |
G |
T |
13: 93,577,904 (GRCm39) |
Q755K |
probably benign |
Het |
Krtap4-7 |
A |
T |
11: 99,534,540 (GRCm39) |
S108T |
unknown |
Het |
Mgat5b |
T |
G |
11: 116,839,483 (GRCm39) |
I333S |
probably benign |
Het |
Mrtfb |
A |
G |
16: 13,218,877 (GRCm39) |
T519A |
probably damaging |
Het |
Naip6 |
G |
A |
13: 100,436,585 (GRCm39) |
A646V |
probably benign |
Het |
Opn4 |
T |
C |
14: 34,314,894 (GRCm39) |
T460A |
probably benign |
Het |
Or6b2 |
A |
T |
1: 92,408,019 (GRCm39) |
V108E |
possibly damaging |
Het |
Or8g22 |
G |
T |
9: 38,957,999 (GRCm39) |
P239T |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,644,617 (GRCm39) |
M1210L |
probably benign |
Het |
Pheta1 |
A |
G |
5: 121,990,794 (GRCm39) |
E52G |
possibly damaging |
Het |
Phf24 |
A |
T |
4: 42,933,831 (GRCm39) |
|
probably null |
Het |
Ppargc1a |
G |
A |
5: 51,620,167 (GRCm39) |
|
probably benign |
Het |
Ptprd |
G |
A |
4: 75,872,405 (GRCm39) |
R1355* |
probably null |
Het |
Rad50 |
A |
G |
11: 53,586,108 (GRCm39) |
|
probably null |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Tbcd |
C |
A |
11: 121,451,569 (GRCm39) |
N546K |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,538,034 (GRCm39) |
D1832G |
probably damaging |
Het |
Tfap2e |
T |
C |
4: 126,628,439 (GRCm39) |
I172M |
probably benign |
Het |
Tnip2 |
A |
G |
5: 34,671,108 (GRCm39) |
L45P |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,260,703 (GRCm39) |
V1396A |
probably benign |
Het |
Usp17le |
T |
C |
7: 104,418,441 (GRCm39) |
I234V |
probably damaging |
Het |
Zfp106 |
T |
C |
2: 120,365,262 (GRCm39) |
T382A |
probably benign |
Het |
Zfp607a |
A |
G |
7: 27,578,744 (GRCm39) |
K605E |
possibly damaging |
Het |
Zmynd10 |
T |
A |
9: 107,427,785 (GRCm39) |
L363H |
possibly 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 |
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 |
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'- ATGATCTATCCTGATGCCCGC -3'
(R):5'- GTGCTCCCACTCTAATTTGGAAGAG -3'
Sequencing Primer
(F):5'- TCCTGTCTAGTAGCGCACAG -3'
(R):5'- CCCACTCTAATTTGGAAGAGATCTTG -3'
|
Posted On |
2016-09-06 |