Incidental Mutation 'R7072:Ube2o'
| ID |
548979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube2o
|
| Ensembl Gene |
ENSMUSG00000020802 |
| Gene Name |
ubiquitin-conjugating enzyme E2O |
| Synonyms |
B230113M03Rik |
| MMRRC Submission |
045168-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.823)
|
| Stock # |
R7072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116432327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 880
(P880S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063396]
[ENSMUST00000063446]
[ENSMUST00000082152]
[ENSMUST00000100201]
[ENSMUST00000106386]
[ENSMUST00000106387]
[ENSMUST00000106388]
[ENSMUST00000141798]
|
| AlphaFold |
Q6ZPJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063396
|
| SMART Domains |
Protein: ENSMUSP00000064743
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
|
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063446
|
| SMART Domains |
Protein: ENSMUSP00000067865
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
|
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082152
AA Change: P880S
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: P880S
| 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 |
probably benign
Transcript: ENSMUST00000100201
|
| SMART Domains |
Protein: ENSMUSP00000097775
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
|
low complexity region
|
256 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106386
|
| SMART Domains |
Protein: ENSMUSP00000101994
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
|
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106387
|
| SMART Domains |
Protein: ENSMUSP00000101995
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
|
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106388
|
| SMART Domains |
Protein: ENSMUSP00000101996
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
|
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141798
|
| SMART Domains |
Protein: ENSMUSP00000131010
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
DAGKc
|
22 |
159 |
1.19e-8 |
SMART |
|
low complexity region
|
263 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
388 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (73/73) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,967,592 (GRCm39) |
L2214Q |
probably damaging |
Het |
| Acbd3 |
T |
C |
1: 180,553,934 (GRCm39) |
F90L |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,751,786 (GRCm39) |
Q23L |
|
Het |
| Anpep |
A |
T |
7: 79,485,127 (GRCm39) |
L620I |
possibly damaging |
Het |
| Bpi |
T |
C |
2: 158,113,998 (GRCm39) |
S299P |
probably damaging |
Het |
| Bpifa2 |
A |
G |
2: 153,853,293 (GRCm39) |
D132G |
probably damaging |
Het |
| Brd7 |
T |
A |
8: 89,073,615 (GRCm39) |
E258D |
probably benign |
Het |
| Btc |
T |
C |
5: 91,550,796 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
A |
G |
6: 118,573,067 (GRCm39) |
V2039A |
|
Het |
| Calm4 |
T |
A |
13: 3,888,275 (GRCm39) |
V127E |
probably benign |
Het |
| Casp8ap2 |
T |
A |
4: 32,644,766 (GRCm39) |
S1280T |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,748,803 (GRCm39) |
V80A |
unknown |
Het |
| Ccdc33 |
A |
G |
9: 58,019,267 (GRCm39) |
*279R |
probably null |
Het |
| Cercam |
T |
A |
2: 29,771,936 (GRCm39) |
H585Q |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,429,296 (GRCm39) |
D138G |
probably benign |
Het |
| Cox4i2 |
T |
C |
2: 152,602,573 (GRCm39) |
F89S |
probably damaging |
Het |
| Crb1 |
G |
A |
1: 139,165,013 (GRCm39) |
T1098I |
probably damaging |
Het |
| Csnk1e |
C |
T |
15: 79,322,967 (GRCm39) |
|
probably null |
Het |
| Ctsj |
C |
A |
13: 61,150,897 (GRCm39) |
E187* |
probably null |
Het |
| Dagla |
A |
T |
19: 10,233,659 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
G |
A |
1: 53,458,912 (GRCm39) |
T3742I |
probably benign |
Het |
| Dnajc6 |
A |
C |
4: 101,472,812 (GRCm39) |
H381P |
probably damaging |
Het |
| Dyrk3 |
A |
T |
1: 131,057,465 (GRCm39) |
L236Q |
probably damaging |
Het |
| Edc4 |
T |
A |
8: 106,614,634 (GRCm39) |
D105E |
probably damaging |
Het |
| Frmd5 |
A |
T |
2: 121,388,351 (GRCm39) |
L241Q |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,106,749 (GRCm39) |
T662A |
probably benign |
Het |
| Gins1 |
C |
T |
2: 150,751,671 (GRCm39) |
|
probably null |
Het |
| Gli3 |
T |
A |
13: 15,900,280 (GRCm39) |
N1222K |
possibly damaging |
Het |
| Gm4302 |
G |
T |
10: 100,177,521 (GRCm39) |
Q268H |
unknown |
Het |
| Grin2d |
A |
T |
7: 45,506,922 (GRCm39) |
W518R |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,723,512 (GRCm39) |
I601F |
probably damaging |
Het |
| Gtpbp10 |
A |
T |
5: 5,596,365 (GRCm39) |
N193K |
probably benign |
Het |
| Igdcc4 |
T |
G |
9: 65,038,013 (GRCm39) |
V798G |
probably damaging |
Het |
| Igkv8-19 |
A |
T |
6: 70,318,396 (GRCm39) |
F13I |
probably benign |
Het |
| Kctd11 |
T |
A |
11: 69,770,621 (GRCm39) |
N139I |
probably benign |
Het |
| Lmo7 |
G |
A |
14: 102,136,136 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
A |
T |
15: 91,686,123 (GRCm39) |
M2155L |
probably benign |
Het |
| Ly6g6g |
C |
T |
15: 74,644,119 (GRCm39) |
V66M |
|
Het |
| Mettl24 |
A |
C |
10: 40,559,509 (GRCm39) |
H53P |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,376,133 (GRCm39) |
M264T |
unknown |
Het |
| Mplkip |
T |
C |
13: 17,870,122 (GRCm39) |
I18T |
unknown |
Het |
| Mtmr2 |
T |
C |
9: 13,699,916 (GRCm39) |
V101A |
probably benign |
Het |
| Nbeal2 |
G |
T |
9: 110,455,119 (GRCm39) |
T2593K |
probably benign |
Het |
| Neu3 |
A |
T |
7: 99,463,404 (GRCm39) |
C106* |
probably null |
Het |
| Nutm1 |
T |
C |
2: 112,082,192 (GRCm39) |
T295A |
probably benign |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,481,269 (GRCm39) |
I90T |
probably benign |
Het |
| Pcdhga7 |
G |
T |
18: 37,850,329 (GRCm39) |
V779L |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,161,858 (GRCm39) |
E231G |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plcg2 |
T |
A |
8: 118,316,574 (GRCm39) |
|
probably null |
Het |
| Pofut2 |
T |
C |
10: 77,095,263 (GRCm39) |
L36P |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,299,754 (GRCm39) |
N635S |
|
Het |
| Pramel14 |
A |
C |
4: 143,720,698 (GRCm39) |
I81R |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,395,350 (GRCm39) |
Y818H |
probably damaging |
Het |
| Rad18 |
T |
C |
6: 112,658,401 (GRCm39) |
E168G |
probably benign |
Het |
| Rev1 |
C |
A |
1: 38,106,626 (GRCm39) |
E634* |
probably null |
Het |
| Sec24d |
A |
G |
3: 123,124,000 (GRCm39) |
D403G |
probably damaging |
Het |
| Sema5a |
C |
A |
15: 32,575,105 (GRCm39) |
H404Q |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 43,994,370 (GRCm39) |
S844G |
unknown |
Het |
| Slc32a1 |
T |
A |
2: 158,453,416 (GRCm39) |
Y85* |
probably null |
Het |
| Slc39a4 |
T |
C |
15: 76,497,458 (GRCm39) |
T485A |
probably damaging |
Het |
| Sp5 |
A |
C |
2: 70,307,074 (GRCm39) |
Q253P |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,431,913 (GRCm39) |
D709V |
probably damaging |
Het |
| Sucnr1 |
A |
G |
3: 59,993,604 (GRCm39) |
Y44C |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,876 (GRCm39) |
L106P |
possibly damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,991,494 (GRCm39) |
D922G |
probably damaging |
Het |
| Tbx6 |
A |
T |
7: 126,383,912 (GRCm39) |
D322V |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,065,459 (GRCm39) |
S1630T |
possibly damaging |
Het |
| Uck1 |
C |
T |
2: 32,148,178 (GRCm39) |
R182Q |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,340,957 (GRCm39) |
H2840L |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,400,329 (GRCm39) |
T1266A |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,914,822 (GRCm39) |
I1909N |
unknown |
Het |
| Zfp352 |
C |
T |
4: 90,112,661 (GRCm39) |
T267I |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,135,874 (GRCm39) |
C241S |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,668,339 (GRCm39) |
D8G |
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 |
|
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 |
|
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'- ACTCATGGTGACTCACAGGGTG -3'
(R):5'- AGAGTTTCCGGGAGCTGAAG -3'
Sequencing Primer
(F):5'- GTGACTCACAGGGTGCAAACTC -3'
(R):5'- TCAAGATCCTGGAGAGCCTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation