Incidental Mutation 'R9686:Ube2o'
ID |
728859 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube2o
|
Ensembl Gene |
ENSMUSG00000020802 |
Gene Name |
ubiquitin-conjugating enzyme E2O |
Synonyms |
B230113M03Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.823)
|
Stock # |
R9686 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116434779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 561
(C561S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080791
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082152]
|
AlphaFold |
Q6ZPJ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000082152
AA Change: C561S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000080791 Gene: ENSMUSG00000020802 AA Change: C561S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,247,867 (GRCm39) |
F1209L |
probably benign |
Het |
Adamts19 |
A |
G |
18: 58,971,093 (GRCm39) |
T226A |
probably benign |
Het |
Akap13 |
A |
G |
7: 75,236,084 (GRCm39) |
T220A |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,740,550 (GRCm39) |
E1778V |
unknown |
Het |
Aspn |
T |
C |
13: 49,710,829 (GRCm39) |
I158T |
probably damaging |
Het |
Btbd1 |
A |
G |
7: 81,455,598 (GRCm39) |
C258R |
probably damaging |
Het |
Btla |
A |
G |
16: 45,070,872 (GRCm39) |
N278S |
probably damaging |
Het |
Cap2 |
A |
G |
13: 46,678,926 (GRCm39) |
E12G |
probably damaging |
Het |
Ccdc171 |
A |
G |
4: 83,467,919 (GRCm39) |
Y88C |
probably damaging |
Het |
Ceacam3 |
C |
T |
7: 16,892,123 (GRCm39) |
L289F |
|
Het |
Cenpj |
G |
A |
14: 56,790,048 (GRCm39) |
A667V |
probably benign |
Het |
Clu |
G |
T |
14: 66,212,454 (GRCm39) |
G136C |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,474,962 (GRCm39) |
F626I |
unknown |
Het |
Csf2ra |
A |
G |
19: 61,213,629 (GRCm39) |
F360S |
probably damaging |
Het |
Cyp27b1 |
T |
A |
10: 126,886,185 (GRCm39) |
S289T |
probably benign |
Het |
Dnah17 |
G |
T |
11: 117,979,048 (GRCm39) |
H1781Q |
possibly damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Fap |
T |
C |
2: 62,403,857 (GRCm39) |
K6R |
possibly damaging |
Het |
Fcer1a |
A |
G |
1: 173,052,980 (GRCm39) |
V72A |
possibly damaging |
Het |
Flnc |
T |
C |
6: 29,456,434 (GRCm39) |
S2211P |
possibly damaging |
Het |
Gm20939 |
A |
T |
17: 95,184,888 (GRCm39) |
H512L |
probably damaging |
Het |
Gng12 |
T |
C |
6: 66,994,529 (GRCm39) |
S59P |
probably damaging |
Het |
Grin1 |
A |
C |
2: 25,203,522 (GRCm39) |
I163S |
probably benign |
Het |
Haus5 |
A |
G |
7: 30,361,398 (GRCm39) |
I74T |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,613,356 (GRCm39) |
P1357L |
probably damaging |
Het |
Kcnv1 |
A |
G |
15: 44,972,500 (GRCm39) |
I461T |
probably benign |
Het |
Kmo |
A |
G |
1: 175,459,786 (GRCm39) |
M1V |
probably null |
Het |
Krt80 |
G |
A |
15: 101,262,281 (GRCm39) |
R107C |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,377,491 (GRCm39) |
V1481A |
possibly damaging |
Het |
Masp1 |
A |
G |
16: 23,314,887 (GRCm39) |
S125P |
probably damaging |
Het |
Mroh2b |
C |
T |
15: 4,974,605 (GRCm39) |
P1195L |
probably benign |
Het |
Neurl3 |
A |
T |
1: 36,305,539 (GRCm39) |
W223R |
probably benign |
Het |
Or10h28 |
A |
G |
17: 33,487,853 (GRCm39) |
T52A |
probably benign |
Het |
Or5g27 |
T |
A |
2: 85,410,340 (GRCm39) |
Y252* |
probably null |
Het |
Or5k1b |
T |
C |
16: 58,581,126 (GRCm39) |
K138E |
possibly damaging |
Het |
Or5m9 |
A |
T |
2: 85,877,335 (GRCm39) |
I170F |
probably benign |
Het |
Pcdhb4 |
A |
C |
18: 37,442,943 (GRCm39) |
Y751S |
probably damaging |
Het |
Pcnx2 |
C |
A |
8: 126,592,766 (GRCm39) |
A733S |
probably benign |
Het |
Pde4a |
A |
G |
9: 21,117,562 (GRCm39) |
E608G |
probably benign |
Het |
Pfdn2 |
G |
A |
1: 171,185,377 (GRCm39) |
E98K |
unknown |
Het |
Pikfyve |
T |
A |
1: 65,291,615 (GRCm39) |
V1278D |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,204,694 (GRCm39) |
T1843S |
probably damaging |
Het |
Rab12 |
G |
T |
17: 66,826,513 (GRCm39) |
A66E |
probably benign |
Het |
Ralyl |
T |
C |
3: 13,841,887 (GRCm39) |
|
probably benign |
Het |
Rbm47 |
A |
T |
5: 66,179,969 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
A |
10: 39,743,384 (GRCm39) |
D3038E |
possibly damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,034,005 (GRCm39) |
F407L |
probably benign |
Het |
S100pbp |
A |
T |
4: 129,049,271 (GRCm39) |
D332E |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,400,577 (GRCm39) |
V729A |
possibly damaging |
Het |
Slfn5 |
A |
T |
11: 82,848,001 (GRCm39) |
E295D |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,316,775 (GRCm39) |
S518G |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,381,954 (GRCm39) |
D29G |
probably damaging |
Het |
Spata13 |
G |
A |
14: 60,989,108 (GRCm39) |
E925K |
probably damaging |
Het |
Spen |
A |
G |
4: 141,199,946 (GRCm39) |
S2894P |
probably benign |
Het |
Taar7a |
G |
A |
10: 23,869,309 (GRCm39) |
T24I |
probably benign |
Het |
Taf4b |
C |
A |
18: 14,932,215 (GRCm39) |
T189N |
possibly damaging |
Het |
Tle7 |
T |
A |
8: 110,836,563 (GRCm39) |
W180R |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,424,351 (GRCm39) |
I3213N |
|
Het |
Vmn1r103 |
A |
G |
7: 20,244,353 (GRCm39) |
V36A |
possibly damaging |
Het |
Vmn2r65 |
G |
A |
7: 84,590,084 (GRCm39) |
L611F |
probably benign |
Het |
Zfp51 |
C |
T |
17: 21,683,871 (GRCm39) |
S162F |
probably damaging |
Het |
Zfp518b |
G |
A |
5: 38,831,457 (GRCm39) |
H183Y |
probably damaging |
Het |
Zfp622 |
A |
G |
15: 25,985,141 (GRCm39) |
E169G |
probably benign |
Het |
Zfp703 |
A |
G |
8: 27,469,044 (GRCm39) |
D236G |
probably damaging |
Het |
Zfp839 |
A |
T |
12: 110,821,932 (GRCm39) |
I249F |
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 |
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 |
R9689:Ube2o
|
UTSW |
11 |
116,435,639 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAACTGAAGAGCTCTGGGGTG -3'
(R):5'- CGTACAGGTGAGCTTTACACAC -3'
Sequencing Primer
(F):5'- AAGAGCTCTGGGGTGCTTGC -3'
(R):5'- GTACAGGTGAGCTTTACACACACTAG -3'
|
Posted On |
2022-10-06 |