Incidental Mutation 'IGL01619:Ube2c'
| ID |
92518 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ube2c
|
| Ensembl Gene |
ENSMUSG00000001403 |
| Gene Name |
ubiquitin-conjugating enzyme E2C |
| Synonyms |
1110015A16Rik, D2Ertd695e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01619
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164611849-164614822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164613232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 50
(I50T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001439]
[ENSMUST00000017443]
[ENSMUST00000088248]
|
| AlphaFold |
Q9D1C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001439
AA Change: I50T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001439
Gene: ENSMUSG00000001403
AA Change: I50T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
16 |
N/A |
INTRINSIC |
|
UBCc
|
33 |
170 |
8.8e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017443
|
| SMART Domains |
Protein: ENSMUSP00000017443
Gene: ENSMUSG00000017299
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
30 |
N/A |
INTRINSIC |
|
Blast:UBCc
|
91 |
157 |
4e-16 |
BLAST |
|
low complexity region
|
158 |
172 |
N/A |
INTRINSIC |
|
Blast:UBCc
|
248 |
287 |
1e-14 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088248
AA Change: I50T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085581
Gene: ENSMUSG00000001403
AA Change: I50T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
16 |
N/A |
INTRINSIC |
|
UBCc
|
33 |
175 |
1.88e-64 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146846
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd46 |
T |
C |
15: 36,486,113 (GRCm39) |
T47A |
possibly damaging |
Het |
| Asxl3 |
T |
G |
18: 22,656,385 (GRCm39) |
V1465G |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,711,756 (GRCm39) |
D1657V |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
| Cimip2b |
G |
A |
4: 43,427,814 (GRCm39) |
T170I |
possibly damaging |
Het |
| Cntn6 |
G |
A |
6: 104,705,335 (GRCm39) |
|
probably benign |
Het |
| Def6 |
C |
T |
17: 28,426,838 (GRCm39) |
L8F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,722,441 (GRCm39) |
K1940* |
probably null |
Het |
| Dock10 |
A |
G |
1: 80,612,015 (GRCm39) |
|
probably benign |
Het |
| Fam72a |
A |
G |
1: 131,461,650 (GRCm39) |
I112V |
probably benign |
Het |
| Fgl1 |
A |
T |
8: 41,650,008 (GRCm39) |
W258R |
probably damaging |
Het |
| Ints6l |
G |
T |
X: 55,542,104 (GRCm39) |
|
probably benign |
Het |
| Lifr |
A |
T |
15: 7,220,643 (GRCm39) |
N1091I |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,762,309 (GRCm39) |
I1100T |
possibly damaging |
Het |
| Mrpl40 |
T |
A |
16: 18,691,294 (GRCm39) |
M139L |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,351,471 (GRCm39) |
|
probably benign |
Het |
| Or2m12 |
T |
A |
16: 19,104,909 (GRCm39) |
T195S |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,992 (GRCm39) |
F791L |
probably damaging |
Het |
| Prss29 |
T |
C |
17: 25,540,113 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,299,900 (GRCm39) |
|
probably null |
Het |
| Serpinb9e |
A |
G |
13: 33,439,108 (GRCm39) |
K178R |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 59,016,601 (GRCm39) |
S233P |
probably damaging |
Het |
| Smpd1 |
G |
A |
7: 105,204,549 (GRCm39) |
V143M |
possibly damaging |
Het |
| Terb1 |
G |
A |
8: 105,199,646 (GRCm39) |
H433Y |
probably benign |
Het |
| Traf6 |
C |
T |
2: 101,520,443 (GRCm39) |
Q164* |
probably null |
Het |
| Trip12 |
C |
A |
1: 84,792,631 (GRCm39) |
R4L |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,693,879 (GRCm39) |
P208S |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,200,775 (GRCm39) |
D1174G |
probably damaging |
Het |
| Vmn2r121 |
T |
G |
X: 123,041,997 (GRCm39) |
M387L |
probably benign |
Het |
| Vmn2r18 |
T |
A |
5: 151,510,229 (GRCm39) |
N48I |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,490,517 (GRCm39) |
L217P |
probably damaging |
Het |
| Zyg11a |
T |
A |
4: 108,062,414 (GRCm39) |
E129V |
probably damaging |
Het |
|
| Other mutations in Ube2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Ube2c
|
APN |
2 |
164,613,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1726:Ube2c
|
UTSW |
2 |
164,613,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Ube2c
|
UTSW |
2 |
164,613,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Ube2c
|
UTSW |
2 |
164,613,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1864:Ube2c
|
UTSW |
2 |
164,611,943 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4624:Ube2c
|
UTSW |
2 |
164,614,093 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4627:Ube2c
|
UTSW |
2 |
164,614,093 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4628:Ube2c
|
UTSW |
2 |
164,614,093 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4629:Ube2c
|
UTSW |
2 |
164,614,093 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4810:Ube2c
|
UTSW |
2 |
164,614,482 (GRCm39) |
makesense |
probably null |
|
|
R5294:Ube2c
|
UTSW |
2 |
164,619,110 (GRCm39) |
missense |
probably benign |
|
|
R7763:Ube2c
|
UTSW |
2 |
164,613,211 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation