Incidental Mutation 'R9388:Ube2o'
| ID |
710446 |
| 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 # |
R9388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116428566-116472273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116430210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1176
(D1176G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063396]
[ENSMUST00000063446]
[ENSMUST00000082152]
[ENSMUST00000100201]
[ENSMUST00000106386]
[ENSMUST00000106387]
[ENSMUST00000106388]
[ENSMUST00000124682]
[ENSMUST00000138840]
[ENSMUST00000141798]
[ENSMUST00000145737]
[ENSMUST00000154034]
[ENSMUST00000155102]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000082152
AA Change: D1176G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: D1176G
| 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: 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,338,714 (GRCm39) |
T433S |
probably benign |
Het |
| Abca14 |
A |
G |
7: 119,882,261 (GRCm39) |
D1141G |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,483,273 (GRCm39) |
S1728P |
unknown |
Het |
| Adam29 |
A |
C |
8: 56,325,285 (GRCm39) |
C390G |
probably damaging |
Het |
| Angptl4 |
G |
A |
17: 33,996,158 (GRCm39) |
R273* |
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,505,877 (GRCm39) |
N929S |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,466,109 (GRCm39) |
|
probably null |
Het |
| Btla |
T |
C |
16: 45,059,454 (GRCm39) |
S53P |
probably damaging |
Het |
| Cand1 |
A |
G |
10: 119,047,213 (GRCm39) |
F759S |
possibly damaging |
Het |
| Cbll1 |
T |
C |
12: 31,541,567 (GRCm39) |
T104A |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,865,756 (GRCm39) |
M2688V |
possibly damaging |
Het |
| Cnot3 |
C |
A |
7: 3,661,367 (GRCm39) |
H625Q |
possibly damaging |
Het |
| Dbn1 |
T |
C |
13: 55,624,088 (GRCm39) |
I381V |
probably benign |
Het |
| Dennd2d |
T |
A |
3: 106,395,915 (GRCm39) |
N135K |
possibly damaging |
Het |
| Dnah7c |
T |
C |
1: 46,779,886 (GRCm39) |
I3196T |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,212,460 (GRCm39) |
R1227L |
possibly damaging |
Het |
| Esr1 |
A |
G |
10: 4,919,179 (GRCm39) |
E423G |
probably benign |
Het |
| Ganab |
A |
G |
19: 8,892,302 (GRCm39) |
Q826R |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,143,522 (GRCm39) |
M684K |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,707,956 (GRCm39) |
L613P |
probably damaging |
Het |
| Hpf1 |
A |
T |
8: 61,353,182 (GRCm39) |
I188L |
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Kif1a |
C |
A |
1: 93,000,029 (GRCm39) |
|
probably null |
Het |
| Kng1 |
A |
T |
16: 22,898,388 (GRCm39) |
Y596F |
possibly damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,961,862 (GRCm39) |
H757Q |
probably damaging |
Het |
| Med24 |
A |
T |
11: 98,600,893 (GRCm39) |
I600N |
possibly damaging |
Het |
| Mmp10 |
G |
A |
9: 7,504,170 (GRCm39) |
W203* |
probably null |
Het |
| Mnt |
C |
T |
11: 74,727,450 (GRCm39) |
A112V |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,472,983 (GRCm39) |
N1415Y |
probably benign |
Het |
| Nipal1 |
T |
A |
5: 72,825,557 (GRCm39) |
*417R |
probably null |
Het |
| Nlrp4c |
C |
T |
7: 6,069,874 (GRCm39) |
Q592* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,943,489 (GRCm39) |
E4220G |
probably damaging |
Het |
| Or10al7 |
C |
T |
17: 38,366,148 (GRCm39) |
C103Y |
probably damaging |
Het |
| Or13a23-ps1 |
G |
T |
7: 140,118,928 (GRCm39) |
C166F |
unknown |
Het |
| Or2w1b |
T |
C |
13: 21,300,774 (GRCm39) |
L304P |
probably damaging |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,853 (GRCm39) |
I460F |
probably benign |
Het |
| Prb1b |
T |
C |
6: 132,289,437 (GRCm39) |
Q129R |
unknown |
Het |
| Primpol |
G |
A |
8: 47,034,605 (GRCm39) |
T441I |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,011,380 (GRCm39) |
V583A |
possibly damaging |
Het |
| Rfx6 |
T |
C |
10: 51,554,117 (GRCm39) |
V71A |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,693,355 (GRCm39) |
I574V |
probably benign |
Het |
| Rims3 |
A |
G |
4: 120,748,552 (GRCm39) |
I258V |
possibly damaging |
Het |
| Sec16b |
T |
C |
1: 157,388,393 (GRCm39) |
Y776H |
probably benign |
Het |
| Skint6 |
C |
T |
4: 113,049,838 (GRCm39) |
D276N |
possibly damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,727,067 (GRCm39) |
D184G |
probably damaging |
Het |
| St6galnac4 |
A |
T |
2: 32,479,625 (GRCm39) |
S61C |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,876,312 (GRCm39) |
V926M |
probably damaging |
Het |
| Stat1 |
A |
T |
1: 52,193,037 (GRCm39) |
K642N |
possibly damaging |
Het |
| Tmprss3 |
A |
G |
17: 31,410,041 (GRCm39) |
F191S |
probably damaging |
Het |
| Usp17ld |
G |
T |
7: 102,900,145 (GRCm39) |
N262K |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,993,233 (GRCm39) |
K365E |
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 |
|
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'- CTCTTTGGTCTAACGCTGGG -3'
(R):5'- AGATGGCATTAATCCGTGTGG -3'
Sequencing Primer
(F):5'- TCTAACGCTGGGAGGTGC -3'
(R):5'- TGCAGTCCATGACCCAGTTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation