Incidental Mutation 'R6125:Ube2o'
| ID |
487356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube2o
|
| Ensembl Gene |
ENSMUSG00000020802 |
| Gene Name |
ubiquitin-conjugating enzyme E2O |
| Synonyms |
B230113M03Rik |
| MMRRC Submission |
044272-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.784)
|
| Stock # |
R6125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 116432204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 921
(A921T)
|
| 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 damaging
Transcript: ENSMUST00000082152
AA Change: A921T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: A921T
| 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 |
noncoding transcript
Transcript: ENSMUST00000134102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147851
|
| 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 |
|
| Meta Mutation Damage Score |
0.1250 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
97% (65/67) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef11 |
T |
C |
3: 87,636,909 (GRCm39) |
F1023S |
probably damaging |
Het |
| Atp1a1 |
G |
A |
3: 101,498,023 (GRCm39) |
R255C |
probably damaging |
Het |
| Bbs12 |
A |
G |
3: 37,374,700 (GRCm39) |
I383V |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,604,668 (GRCm39) |
P1215L |
probably benign |
Het |
| Calm5 |
A |
T |
13: 3,904,491 (GRCm39) |
K62* |
probably null |
Het |
| Chd8 |
T |
A |
14: 52,444,491 (GRCm39) |
H398L |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,217 (GRCm39) |
T88A |
probably benign |
Het |
| Dlgap2 |
A |
T |
8: 14,777,193 (GRCm39) |
H146L |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,186 (GRCm39) |
R1462H |
probably damaging |
Het |
| Dusp29 |
C |
A |
14: 21,736,758 (GRCm39) |
V115L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,168,706 (GRCm39) |
N369S |
probably damaging |
Het |
| Fer1l4 |
A |
C |
2: 155,888,907 (GRCm39) |
V422G |
probably damaging |
Het |
| Fstl4 |
T |
C |
11: 53,077,130 (GRCm39) |
M629T |
probably benign |
Het |
| Galnt18 |
A |
G |
7: 111,084,400 (GRCm39) |
Y507H |
probably damaging |
Het |
| Gar1 |
C |
A |
3: 129,624,399 (GRCm39) |
|
probably benign |
Het |
| Gm19402 |
T |
C |
10: 77,526,507 (GRCm39) |
T29A |
probably damaging |
Het |
| Gm826 |
A |
G |
2: 160,169,034 (GRCm39) |
F92L |
unknown |
Het |
| H1f0 |
T |
A |
15: 78,913,070 (GRCm39) |
I50N |
probably damaging |
Het |
| H2-DMb1 |
A |
G |
17: 34,376,439 (GRCm39) |
Y186C |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,803,159 (GRCm39) |
N357S |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
C |
10: 57,388,101 (GRCm39) |
V415A |
probably benign |
Het |
| Ins2 |
C |
A |
7: 142,233,430 (GRCm39) |
|
probably null |
Het |
| Kel |
A |
T |
6: 41,667,720 (GRCm39) |
F89L |
probably damaging |
Het |
| Lratd2 |
T |
C |
15: 60,695,146 (GRCm39) |
N200S |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,392,386 (GRCm39) |
D1013G |
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,027,180 (GRCm39) |
G397C |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,982,797 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,043,125 (GRCm39) |
D660G |
possibly damaging |
Het |
| Mdm4 |
G |
A |
1: 132,922,248 (GRCm39) |
T298I |
possibly damaging |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,215,764 (GRCm39) |
C1487S |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,537,576 (GRCm39) |
S47P |
probably damaging |
Het |
| Nek1 |
T |
C |
8: 61,481,735 (GRCm39) |
S217P |
probably damaging |
Het |
| Or10ag59 |
T |
C |
2: 87,405,590 (GRCm39) |
I54T |
probably benign |
Het |
| Or5b123 |
C |
T |
19: 13,597,249 (GRCm39) |
A241V |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,679 (GRCm39) |
V585A |
possibly damaging |
Het |
| Perm1 |
A |
G |
4: 156,302,176 (GRCm39) |
E240G |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,700,585 (GRCm39) |
T1784A |
probably damaging |
Het |
| Pnpla8 |
C |
T |
12: 44,354,772 (GRCm39) |
T644M |
possibly damaging |
Het |
| Rgs2 |
T |
C |
1: 143,879,763 (GRCm39) |
K32E |
probably damaging |
Het |
| Scyl3 |
A |
T |
1: 163,778,145 (GRCm39) |
M428L |
probably benign |
Het |
| Slc30a8 |
A |
G |
15: 52,198,530 (GRCm39) |
D325G |
probably benign |
Het |
| Slc5a9 |
G |
T |
4: 111,741,002 (GRCm39) |
T548K |
probably damaging |
Het |
| Slc9b2 |
G |
A |
3: 135,036,457 (GRCm39) |
|
probably null |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,461,560 (GRCm39) |
|
probably null |
Het |
| Stk39 |
C |
A |
2: 68,222,468 (GRCm39) |
G199C |
probably damaging |
Het |
| Tbx1 |
A |
G |
16: 18,402,216 (GRCm39) |
F263L |
probably damaging |
Het |
| Tcf21 |
G |
T |
10: 22,695,665 (GRCm39) |
N46K |
probably benign |
Het |
| Tdrd9 |
T |
A |
12: 112,034,632 (GRCm39) |
M1357K |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,521 (GRCm39) |
L625P |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,847,387 (GRCm39) |
S1237L |
possibly damaging |
Het |
| Trdv5 |
T |
C |
14: 54,386,298 (GRCm39) |
K56E |
possibly damaging |
Het |
| Triml2 |
G |
A |
8: 43,640,659 (GRCm39) |
V172I |
probably benign |
Het |
| Trmt44 |
C |
A |
5: 35,722,842 (GRCm39) |
D409Y |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,483,203 (GRCm39) |
T22A |
probably benign |
Het |
| Ugp2 |
A |
T |
11: 21,279,815 (GRCm39) |
F327L |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,521,172 (GRCm39) |
S910P |
probably damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,990,836 (GRCm39) |
Y842H |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,463,871 (GRCm39) |
D1368G |
possibly damaging |
Het |
| Zfp980 |
T |
A |
4: 145,429,208 (GRCm39) |
*646R |
probably null |
Het |
| Zranb3 |
T |
A |
1: 127,887,482 (GRCm39) |
N982Y |
probably benign |
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 |
|
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'- TTCCGCACTGTGCTGAAGAAC -3'
(R):5'- GAAGACCCTGGACAATGTGG -3'
Sequencing Primer
(F):5'- GGGCTGGAACTCAATCTTCTTGAAAG -3'
(R):5'- AATGTGGCCATTGCTGAGGAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation