Incidental Mutation 'IGL03066:Ubc'
| ID |
409719 |
| 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 # |
IGL03066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
125463029-125467081 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 125465327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114180
Gene: ENSMUSG00000008348
| 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
|
| SMART Domains |
Protein: ENSMUSP00000115578
Gene: ENSMUSG00000008348
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brd4 |
A |
C |
17: 32,418,062 (GRCm39) |
|
probably benign |
Het |
| Cd209d |
C |
A |
8: 3,928,437 (GRCm39) |
|
probably null |
Het |
| Cela2a |
T |
A |
4: 141,548,765 (GRCm39) |
I124F |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,335,262 (GRCm39) |
N245K |
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,765,183 (GRCm39) |
F148L |
probably benign |
Het |
| Ctsj |
A |
C |
13: 61,152,302 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Cul4a |
A |
G |
8: 13,183,776 (GRCm39) |
N388S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,418,553 (GRCm39) |
D147G |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,369,089 (GRCm39) |
T4287A |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,562,758 (GRCm39) |
C534F |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,596,001 (GRCm39) |
E49G |
probably benign |
Het |
| Fancm |
G |
T |
12: 65,171,888 (GRCm39) |
E86* |
probably null |
Het |
| Galnt17 |
A |
T |
5: 130,929,486 (GRCm39) |
S440R |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lctl |
T |
G |
9: 64,025,017 (GRCm39) |
M1R |
probably null |
Het |
| Llgl1 |
A |
G |
11: 60,596,860 (GRCm39) |
T154A |
possibly damaging |
Het |
| Mink1 |
G |
T |
11: 70,499,715 (GRCm39) |
V750F |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,549,595 (GRCm39) |
V950A |
possibly damaging |
Het |
| Myg1 |
G |
A |
15: 102,242,801 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,778 (GRCm39) |
I172F |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,419,305 (GRCm39) |
R57S |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,667 (GRCm39) |
H54R |
probably benign |
Het |
| Pask |
A |
T |
1: 93,258,588 (GRCm39) |
S253R |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,208 (GRCm39) |
H3253Q |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,971,523 (GRCm39) |
|
probably benign |
Het |
| Rnf169 |
G |
T |
7: 99,574,760 (GRCm39) |
R612S |
possibly damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,278 (GRCm39) |
D104E |
probably benign |
Het |
| Shh |
G |
T |
5: 28,666,369 (GRCm39) |
D172E |
probably damaging |
Het |
| Sil1 |
G |
T |
18: 35,402,259 (GRCm39) |
|
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 82,992,557 (GRCm39) |
I388T |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,149,457 (GRCm39) |
Y946C |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,878,168 (GRCm39) |
I219F |
probably damaging |
Het |
| Tcf3 |
T |
C |
10: 80,248,879 (GRCm39) |
D529G |
probably damaging |
Het |
| Txnip |
G |
A |
3: 96,466,934 (GRCm39) |
E203K |
probably damaging |
Het |
| Ubxn4 |
A |
T |
1: 128,188,591 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
C |
16: 87,268,721 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,472,574 (GRCm39) |
N49I |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,339 (GRCm39) |
I292N |
probably damaging |
Het |
| Zfp128 |
A |
G |
7: 12,624,044 (GRCm39) |
I137M |
probably benign |
Het |
|
| Other mutations in Ubc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02225:Ubc
|
APN |
5 |
125,463,197 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation