Incidental Mutation 'R6234:Ube2o'
| ID |
504827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube2o
|
| Ensembl Gene |
ENSMUSG00000020802 |
| Gene Name |
ubiquitin-conjugating enzyme E2O |
| Synonyms |
B230113M03Rik |
| MMRRC Submission |
044399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.823)
|
| Stock # |
R6234 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116430316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1141
(S1141T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063396]
[ENSMUST00000063446]
[ENSMUST00000082152]
[ENSMUST00000100201]
[ENSMUST00000106386]
[ENSMUST00000106387]
[ENSMUST00000106388]
[ENSMUST00000141798]
[ENSMUST00000145737]
[ENSMUST00000154034]
[ENSMUST00000155102]
[ENSMUST00000124682]
[ENSMUST00000138840]
|
| 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: S1141T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: S1141T
| 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 |
noncoding transcript
Transcript: ENSMUST00000134834
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145737
|
| SMART Domains |
Protein: ENSMUSP00000114622
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154034
|
| SMART Domains |
Protein: ENSMUSP00000121219
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155102
|
| SMART Domains |
Protein: ENSMUSP00000114819
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAGK_cat
|
16 |
116 |
4.6e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124682
|
| SMART Domains |
Protein: ENSMUSP00000116055
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138840
|
| SMART Domains |
Protein: ENSMUSP00000121064
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150658
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (51/51) |
| 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 |
|---|
| Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
| Adgb |
A |
C |
10: 10,228,824 (GRCm39) |
|
probably null |
Het |
| Aldoart1 |
A |
G |
4: 72,770,409 (GRCm39) |
I78T |
probably damaging |
Het |
| Bcl2l2 |
A |
G |
14: 55,122,245 (GRCm39) |
D136G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,037,620 (GRCm39) |
T2475A |
probably benign |
Het |
| Cd34 |
A |
T |
1: 194,630,308 (GRCm39) |
I81F |
probably damaging |
Het |
| Chmp1b |
T |
A |
18: 67,339,169 (GRCm39) |
*200R |
probably null |
Het |
| Clic6 |
T |
C |
16: 92,296,110 (GRCm39) |
S257P |
probably benign |
Het |
| Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Eef1akmt2 |
T |
C |
7: 132,429,585 (GRCm39) |
T215A |
probably damaging |
Het |
| Fbrsl1 |
G |
A |
5: 110,525,917 (GRCm39) |
T95I |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,432,488 (GRCm39) |
I345T |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,196,000 (GRCm39) |
F567L |
unknown |
Het |
| Ftdc1 |
T |
A |
16: 58,435,034 (GRCm39) |
D97V |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
| Gfm1 |
A |
G |
3: 67,342,847 (GRCm39) |
D127G |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,768 (GRCm39) |
T284S |
probably benign |
Het |
| Gm9925 |
A |
T |
18: 74,198,308 (GRCm39) |
|
probably benign |
Het |
| Hc |
T |
C |
2: 34,918,058 (GRCm39) |
I742V |
probably benign |
Het |
| Heatr5a |
A |
T |
12: 51,924,237 (GRCm39) |
M1992K |
possibly damaging |
Het |
| Homer3 |
T |
C |
8: 70,743,815 (GRCm39) |
|
probably null |
Het |
| Hsf5 |
C |
G |
11: 87,508,120 (GRCm39) |
T8S |
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,231,757 (GRCm39) |
D395G |
probably damaging |
Het |
| Kctd14 |
T |
A |
7: 97,107,219 (GRCm39) |
V190E |
probably damaging |
Het |
| Mamdc4 |
C |
G |
2: 25,460,092 (GRCm39) |
G57A |
probably damaging |
Het |
| Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Mtch1 |
A |
T |
17: 29,559,485 (GRCm39) |
|
probably null |
Het |
| Nasp |
G |
A |
4: 116,479,979 (GRCm39) |
A31V |
possibly damaging |
Het |
| Neil3 |
G |
T |
8: 54,061,774 (GRCm39) |
D202E |
probably damaging |
Het |
| Nfkb1 |
C |
T |
3: 135,332,471 (GRCm39) |
V95I |
possibly damaging |
Het |
| Ptpra |
T |
A |
2: 130,379,508 (GRCm39) |
M327K |
probably damaging |
Het |
| Ptprg |
C |
A |
14: 12,213,747 (GRCm38) |
F263L |
probably damaging |
Het |
| Sap30 |
A |
G |
8: 57,938,152 (GRCm39) |
V155A |
probably damaging |
Het |
| Serpinb2 |
G |
A |
1: 107,452,501 (GRCm39) |
V360M |
probably damaging |
Het |
| Stradb |
A |
G |
1: 59,027,707 (GRCm39) |
H79R |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,113,458 (GRCm39) |
|
probably null |
Het |
| Tcaf2 |
A |
T |
6: 42,607,308 (GRCm39) |
H215Q |
probably benign |
Het |
| Tdrd5 |
A |
T |
1: 156,120,947 (GRCm39) |
S227T |
possibly damaging |
Het |
| Timmdc1 |
A |
T |
16: 38,338,861 (GRCm39) |
Y76* |
probably null |
Het |
| Tmbim4 |
T |
A |
10: 120,057,628 (GRCm39) |
|
probably null |
Het |
| Tpr |
A |
G |
1: 150,293,790 (GRCm39) |
K854R |
probably benign |
Het |
| Trav6-5 |
A |
G |
14: 53,728,832 (GRCm39) |
T30A |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,776,523 (GRCm39) |
|
probably null |
Het |
| Usp54 |
T |
A |
14: 20,633,518 (GRCm39) |
K339I |
probably damaging |
Het |
| Vwf |
T |
G |
6: 125,634,128 (GRCm39) |
V202G |
unknown |
Het |
| Wdr7 |
T |
C |
18: 63,857,203 (GRCm39) |
L93P |
probably damaging |
Het |
| Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
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 |
|
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 |
|
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'- CTCTTTGGTCTAACGCTGGGAG -3'
(R):5'- AGCTGGCTTTGACAGTGACC -3'
Sequencing Primer
(F):5'- ATGCATCAGGGGCTGTCTCAG -3'
(R):5'- TTTGACAGTGACCGGGGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation