Incidental Mutation 'R1424:Ube2o'
| ID |
161234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube2o
|
| Ensembl Gene |
ENSMUSG00000020802 |
| Gene Name |
ubiquitin-conjugating enzyme E2O |
| Synonyms |
B230113M03Rik |
| MMRRC Submission |
039480-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.784)
|
| Stock # |
R1424 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116434558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 590
(V590A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082152]
|
| AlphaFold |
Q6ZPJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082152
AA Change: V590A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: V590A
| 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
|
| Meta Mutation Damage Score |
0.0687 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.6%
|
| Validation Efficiency |
97% (57/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
C |
A |
12: 72,939,669 (GRCm39) |
E415* |
probably null |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acad12 |
C |
T |
5: 121,742,385 (GRCm39) |
A408T |
probably benign |
Het |
| Acox2 |
T |
A |
14: 8,230,247 (GRCm38) |
H632L |
probably benign |
Het |
| Anxa5 |
A |
T |
3: 36,506,441 (GRCm39) |
|
probably null |
Het |
| Ap1m2 |
A |
T |
9: 21,209,500 (GRCm39) |
I392N |
possibly damaging |
Het |
| Casp2 |
T |
C |
6: 42,253,725 (GRCm39) |
|
probably benign |
Het |
| Cel |
C |
T |
2: 28,449,636 (GRCm39) |
A243T |
probably damaging |
Het |
| Depp1 |
A |
G |
6: 116,628,966 (GRCm39) |
N103S |
possibly damaging |
Het |
| Dgka |
A |
T |
10: 128,569,202 (GRCm39) |
S177T |
possibly damaging |
Het |
| Dnajc6 |
A |
G |
4: 101,496,544 (GRCm39) |
T836A |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,790,392 (GRCm39) |
S1444G |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,293,649 (GRCm39) |
D176G |
probably benign |
Het |
| Eif4g1 |
T |
C |
16: 20,497,692 (GRCm39) |
I230T |
probably benign |
Het |
| Fam227a |
T |
A |
15: 79,518,309 (GRCm39) |
I328F |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,847,173 (GRCm39) |
L179S |
probably damaging |
Het |
| Fgb |
A |
T |
3: 82,954,070 (GRCm39) |
I56N |
probably damaging |
Het |
| Fmo1 |
C |
T |
1: 162,657,635 (GRCm39) |
R502Q |
probably damaging |
Het |
| Fndc3a |
C |
T |
14: 72,811,811 (GRCm39) |
A340T |
probably damaging |
Het |
| Gli3 |
C |
A |
13: 15,900,899 (GRCm39) |
Q1429K |
probably benign |
Het |
| Gm3443 |
A |
T |
19: 21,534,959 (GRCm39) |
I75F |
possibly damaging |
Het |
| Gtpbp6 |
C |
T |
5: 110,252,155 (GRCm39) |
|
probably null |
Het |
| Gtsf1 |
A |
T |
15: 103,318,070 (GRCm39) |
Y156* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,522,545 (GRCm39) |
T3452A |
probably benign |
Het |
| Kcnj10 |
T |
A |
1: 172,196,822 (GRCm39) |
V112E |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,653,048 (GRCm39) |
T256K |
probably benign |
Het |
| Lrrc8d |
G |
A |
5: 105,974,782 (GRCm39) |
V63M |
unknown |
Het |
| Matn3 |
G |
T |
12: 9,011,132 (GRCm39) |
A348S |
possibly damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,121 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
A |
G |
8: 26,190,594 (GRCm39) |
N175S |
probably damaging |
Het |
| Or11h4 |
A |
T |
14: 50,974,521 (GRCm39) |
F33I |
probably benign |
Het |
| Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
| Or4c35 |
C |
T |
2: 89,808,415 (GRCm39) |
Q98* |
probably null |
Het |
| Or4k5 |
C |
A |
14: 50,385,922 (GRCm39) |
M136I |
possibly damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,571,132 (GRCm39) |
N759K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,415,348 (GRCm39) |
|
probably benign |
Het |
| Polq |
G |
A |
16: 36,906,890 (GRCm39) |
D2284N |
probably damaging |
Het |
| Prdm12 |
C |
T |
2: 31,533,823 (GRCm39) |
R147C |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,382 (GRCm39) |
D824G |
probably benign |
Het |
| Rere |
C |
T |
4: 150,701,495 (GRCm39) |
R1292C |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,671,419 (GRCm39) |
L294* |
probably null |
Het |
| Sbf2 |
A |
T |
7: 109,914,233 (GRCm39) |
C1650S |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 142,147,621 (GRCm39) |
T1751I |
probably damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,787,899 (GRCm39) |
|
probably null |
Het |
| Shank2 |
T |
A |
7: 143,606,109 (GRCm39) |
D97E |
probably damaging |
Het |
| Tab2 |
A |
C |
10: 7,795,812 (GRCm39) |
S149R |
possibly damaging |
Het |
| Taok1 |
G |
T |
11: 77,440,190 (GRCm39) |
R606S |
probably benign |
Het |
| Tas2r121 |
A |
G |
6: 132,677,645 (GRCm39) |
L109P |
probably damaging |
Het |
| Tmem117 |
A |
G |
15: 94,829,689 (GRCm39) |
M175V |
probably benign |
Het |
| Tmprss11b |
T |
C |
5: 86,812,832 (GRCm39) |
K155E |
probably benign |
Het |
| Tmtc2 |
G |
T |
10: 105,249,229 (GRCm39) |
T168N |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
| Tsga10ip |
C |
T |
19: 5,440,942 (GRCm39) |
|
probably null |
Het |
| Tuba8 |
A |
G |
6: 121,197,470 (GRCm39) |
N44S |
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,275,075 (GRCm39) |
|
probably null |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,229 (GRCm39) |
Y368* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCATAGACGCTCACGTCCTCC -3'
(R):5'- TGGACAACAATGAGTTCTGCCCTG -3'
Sequencing Primer
(F):5'- TCTTCTCCAATGAGCTGCG -3'
(R):5'- GGGGACTTCGTGGTGGAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation