Incidental Mutation 'IGL02225:Ubc'
| ID |
285292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubc
|
| Ensembl Gene |
ENSMUSG00000008348 |
| Gene Name |
ubiquitin C |
| Synonyms |
2700054O04Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
125463029-125467081 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125463197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 710
(V710D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100700]
[ENSMUST00000108707]
[ENSMUST00000136312]
[ENSMUST00000156249]
|
| AlphaFold |
P0CG50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100700
|
| SMART Domains |
Protein: ENSMUSP00000098265
Gene: ENSMUSG00000072612
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108707
|
| SMART Domains |
Protein: ENSMUSP00000104347
Gene: ENSMUSG00000008348
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
1 |
72 |
2.14e-36 |
SMART |
|
UBQ
|
77 |
148 |
2.14e-36 |
SMART |
|
UBQ
|
153 |
201 |
1.42e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136312
AA Change: V710D
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000114180
Gene: ENSMUSG00000008348
AA Change: V710D
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
1 |
72 |
2.14e-36 |
SMART |
|
UBQ
|
77 |
148 |
2.14e-36 |
SMART |
|
UBQ
|
153 |
224 |
2.14e-36 |
SMART |
|
UBQ
|
229 |
300 |
2.14e-36 |
SMART |
|
UBQ
|
305 |
376 |
2.14e-36 |
SMART |
|
UBQ
|
381 |
452 |
2.14e-36 |
SMART |
|
UBQ
|
457 |
528 |
2.14e-36 |
SMART |
|
UBQ
|
533 |
604 |
2.14e-36 |
SMART |
|
UBQ
|
609 |
680 |
2.14e-36 |
SMART |
|
PDB:4MDK|H
|
684 |
711 |
9e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156249
AA Change: V710D
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000115578
Gene: ENSMUSG00000008348
AA Change: V710D
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
1 |
72 |
2.14e-36 |
SMART |
|
UBQ
|
77 |
148 |
2.14e-36 |
SMART |
|
UBQ
|
153 |
224 |
2.14e-36 |
SMART |
|
UBQ
|
229 |
300 |
2.14e-36 |
SMART |
|
UBQ
|
305 |
376 |
2.14e-36 |
SMART |
|
UBQ
|
381 |
452 |
2.14e-36 |
SMART |
|
UBQ
|
457 |
528 |
2.14e-36 |
SMART |
|
UBQ
|
533 |
604 |
2.14e-36 |
SMART |
|
UBQ
|
609 |
680 |
2.14e-36 |
SMART |
|
PDB:4MDK|H
|
684 |
711 |
9e-6 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous null embryos die between E 12.5 and E14.5 most likely due to a severe defect in liver cell proliferation. Mutant MEFs exhibit reduced growth rates, premature senescence, increased apoptosis and delayed cell-cycle progression, and are hypersensitive to proteasome inhibitors and heat shock. [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 |
|---|
| Acp4 |
A |
G |
7: 43,906,165 (GRCm39) |
|
probably null |
Het |
| Adgrf4 |
C |
A |
17: 42,974,269 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
A |
T |
9: 71,037,829 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
A |
G |
6: 124,518,293 (GRCm39) |
W8R |
probably benign |
Het |
| Cep43 |
T |
G |
17: 8,401,251 (GRCm39) |
D257E |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,800,616 (GRCm39) |
I345T |
probably benign |
Het |
| Cwh43 |
T |
C |
5: 73,578,910 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp4a32 |
A |
T |
4: 115,467,700 (GRCm39) |
H228L |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,630 (GRCm39) |
L607P |
probably damaging |
Het |
| Dlg3 |
A |
G |
X: 99,850,794 (GRCm39) |
K232R |
probably benign |
Het |
| Fig4 |
A |
G |
10: 41,132,448 (GRCm39) |
S453P |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,858,743 (GRCm39) |
L1556P |
probably damaging |
Het |
| Gjb2 |
T |
C |
14: 57,337,645 (GRCm39) |
K188E |
probably damaging |
Het |
| Gp1bb |
C |
A |
16: 18,439,650 (GRCm39) |
W148L |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,885,358 (GRCm39) |
T375M |
probably damaging |
Het |
| Hnf1b |
T |
C |
11: 83,752,611 (GRCm39) |
L82P |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,262,200 (GRCm39) |
V333A |
probably damaging |
Het |
| Magi1 |
G |
T |
6: 93,671,007 (GRCm39) |
R1069S |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 48,911,526 (GRCm39) |
E319D |
probably benign |
Het |
| Myl4 |
A |
G |
11: 104,471,228 (GRCm39) |
I42V |
probably benign |
Het |
| Obsl1 |
A |
T |
1: 75,480,442 (GRCm39) |
V394E |
probably damaging |
Het |
| Or1e1c |
T |
A |
11: 73,265,904 (GRCm39) |
F110I |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,373 (GRCm39) |
I227F |
probably damaging |
Het |
| Or5w14 |
C |
T |
2: 87,541,743 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,365,310 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,786,327 (GRCm39) |
K972E |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,507,264 (GRCm39) |
T227A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,359,614 (GRCm39) |
|
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,098,733 (GRCm39) |
V163E |
probably damaging |
Het |
| Snx1 |
G |
A |
9: 66,016,903 (GRCm39) |
P56L |
probably benign |
Het |
| Snx14 |
G |
A |
9: 88,295,577 (GRCm39) |
T196I |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,461,268 (GRCm39) |
F3570L |
probably benign |
Het |
| Tbrg4 |
C |
A |
11: 6,574,094 (GRCm39) |
V43F |
probably damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,877,408 (GRCm39) |
I176T |
probably benign |
Het |
| Trbv20 |
T |
A |
6: 41,165,241 (GRCm39) |
|
probably benign |
Het |
| Ugt2b35 |
T |
C |
5: 87,155,264 (GRCm39) |
|
probably benign |
Het |
| Zbed5 |
C |
T |
5: 129,930,974 (GRCm39) |
|
probably null |
Het |
| Zc3hav1 |
T |
C |
6: 38,317,276 (GRCm39) |
Y108C |
probably damaging |
Het |
|
| Other mutations in Ubc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02430:Ubc
|
APN |
5 |
125,464,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Ubc
|
APN |
5 |
125,464,377 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02866:Ubc
|
APN |
5 |
125,464,486 (GRCm39) |
missense |
probably benign |
|
|
IGL02902:Ubc
|
APN |
5 |
125,463,293 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02927:Ubc
|
APN |
5 |
125,463,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03027:Ubc
|
APN |
5 |
125,464,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03066:Ubc
|
APN |
5 |
125,465,327 (GRCm39) |
splice site |
probably benign |
|
|
R4940:Ubc
|
UTSW |
5 |
125,463,293 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5509:Ubc
|
UTSW |
5 |
125,464,339 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6318:Ubc
|
UTSW |
5 |
125,465,324 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R6339:Ubc
|
UTSW |
5 |
125,464,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7033:Ubc
|
UTSW |
5 |
125,465,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7764:Ubc
|
UTSW |
5 |
125,465,133 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8097:Ubc
|
UTSW |
5 |
125,466,982 (GRCm39) |
start gained |
probably benign |
|
|
R8348:Ubc
|
UTSW |
5 |
125,465,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9418:Ubc
|
UTSW |
5 |
125,464,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Ubc
|
UTSW |
5 |
125,464,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation