Incidental Mutation 'IGL01291:Ube2o'
| ID |
72930 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ube2o
|
| Ensembl Gene |
ENSMUSG00000020802 |
| Gene Name |
ubiquitin-conjugating enzyme E2O |
| Synonyms |
B230113M03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.784)
|
| Stock # |
IGL01291
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116430960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 980
(D980G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063396]
[ENSMUST00000063446]
[ENSMUST00000082152]
[ENSMUST00000100201]
[ENSMUST00000106386]
[ENSMUST00000106387]
[ENSMUST00000106388]
[ENSMUST00000154034]
[ENSMUST00000155102]
[ENSMUST00000138840]
[ENSMUST00000145737]
[ENSMUST00000141798]
[ENSMUST00000124682]
|
| 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: D980G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: D980G
| 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: ENSMUST00000134102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150658
|
| 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 |
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 |
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: 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: ENSMUST00000124682
|
| SMART Domains |
Protein: ENSMUSP00000116055
Gene: ENSMUSG00000061878
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,363,931 (GRCm39) |
F1464Y |
probably benign |
Het |
| Adgrg6 |
G |
A |
10: 14,286,274 (GRCm39) |
A1114V |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,566,438 (GRCm39) |
I975T |
possibly damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,640,481 (GRCm39) |
W1213R |
probably benign |
Het |
| Ccar1 |
T |
A |
10: 62,592,428 (GRCm39) |
E708V |
probably damaging |
Het |
| Ceacam23 |
T |
A |
7: 17,639,041 (GRCm39) |
|
noncoding transcript |
Het |
| Cilp |
T |
C |
9: 65,186,265 (GRCm39) |
S787P |
possibly damaging |
Het |
| Col5a1 |
T |
A |
2: 27,861,456 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
G |
A |
1: 90,730,014 (GRCm39) |
T1157I |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,835,599 (GRCm39) |
|
probably benign |
Het |
| Dusp19 |
A |
G |
2: 80,454,618 (GRCm39) |
T113A |
probably benign |
Het |
| Dync1h1 |
A |
C |
12: 110,615,538 (GRCm39) |
Y2957S |
probably benign |
Het |
| Fcho1 |
A |
T |
8: 72,165,191 (GRCm39) |
L422Q |
probably benign |
Het |
| Gca |
T |
A |
2: 62,520,787 (GRCm39) |
Y210* |
probably null |
Het |
| Gpnmb |
T |
C |
6: 49,032,615 (GRCm39) |
V513A |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,415,786 (GRCm39) |
T192A |
probably damaging |
Het |
| Isca1 |
T |
C |
13: 59,906,785 (GRCm39) |
T54A |
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,812,100 (GRCm39) |
V715A |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,045,865 (GRCm39) |
D257N |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,314,439 (GRCm39) |
H166R |
probably damaging |
Het |
| M6pr |
A |
G |
6: 122,289,218 (GRCm39) |
R9G |
probably benign |
Het |
| Or8k30 |
G |
A |
2: 86,339,513 (GRCm39) |
A237T |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 155,059,103 (GRCm39) |
M412T |
probably damaging |
Het |
| Psd |
A |
G |
19: 46,303,186 (GRCm39) |
V100A |
possibly damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,235,087 (GRCm39) |
T28A |
probably damaging |
Het |
| Rnpepl1 |
A |
T |
1: 92,847,468 (GRCm39) |
D685V |
probably benign |
Het |
| Rrad |
T |
C |
8: 105,357,283 (GRCm39) |
E88G |
probably benign |
Het |
| Sdk2 |
T |
A |
11: 113,733,906 (GRCm39) |
M846L |
probably benign |
Het |
| Sparcl1 |
A |
T |
5: 104,242,581 (GRCm39) |
V36E |
possibly damaging |
Het |
| Srrm4 |
C |
T |
5: 116,605,628 (GRCm39) |
E210K |
unknown |
Het |
| Stk25 |
A |
T |
1: 93,551,145 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
A |
T |
3: 134,635,810 (GRCm39) |
Y338F |
probably damaging |
Het |
| Tap2 |
A |
T |
17: 34,428,184 (GRCm39) |
Q286L |
probably benign |
Het |
| Tbce |
A |
T |
13: 14,184,325 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
C |
A |
7: 55,458,277 (GRCm39) |
A396E |
possibly damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,433 (GRCm39) |
M98V |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,935 (GRCm39) |
H236L |
probably benign |
Het |
| Zfp521 |
T |
C |
18: 13,950,303 (GRCm39) |
H1217R |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,601,779 (GRCm39) |
F110I |
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 |
|
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 |
|
R9686:Ube2o
|
UTSW |
11 |
116,434,779 (GRCm39) |
missense |
probably benign |
|
|
R9689:Ube2o
|
UTSW |
11 |
116,435,639 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2013-10-07 |
Incidental Mutation