Incidental Mutation 'IGL02299:Urgcp'
| ID |
290237 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Urgcp
|
| Ensembl Gene |
ENSMUSG00000049680 |
| Gene Name |
upregulator of cell proliferation |
| Synonyms |
2010005J08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
IGL02299
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5663417-5712376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5667573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 255
(L255P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053427]
[ENSMUST00000093362]
[ENSMUST00000118076]
[ENSMUST00000120306]
[ENSMUST00000140922]
[ENSMUST00000170116]
|
| AlphaFold |
Q5NCI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053427
AA Change: L255P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055821
Gene: ENSMUSG00000049680
AA Change: L255P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PGAM
|
1 |
709 |
N/A |
BLAST |
|
SCOP:d1h65a_
|
627 |
718 |
1e-3 |
SMART |
|
coiled coil region
|
856 |
883 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093362
AA Change: L298P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091053
Gene: ENSMUSG00000049680
AA Change: L298P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PGAM
|
15 |
752 |
N/A |
BLAST |
|
SCOP:d1h65a_
|
670 |
761 |
1e-3 |
SMART |
|
coiled coil region
|
899 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118076
AA Change: L255P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113589
Gene: ENSMUSG00000049680
AA Change: L255P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PGAM
|
1 |
709 |
N/A |
BLAST |
|
SCOP:d1h65a_
|
627 |
718 |
1e-3 |
SMART |
|
coiled coil region
|
856 |
883 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120306
AA Change: L255P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113060
Gene: ENSMUSG00000049680
AA Change: L255P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PGAM
|
1 |
709 |
N/A |
BLAST |
|
SCOP:d1h65a_
|
627 |
718 |
1e-3 |
SMART |
|
coiled coil region
|
856 |
883 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140922
|
| SMART Domains |
Protein: ENSMUSP00000120902
Gene: ENSMUSG00000049680
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PGAM
|
1 |
99 |
7e-43 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149980
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170116
AA Change: L255P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133216
Gene: ENSMUSG00000049680
AA Change: L255P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PGAM
|
1 |
709 |
N/A |
BLAST |
|
SCOP:d1h65a_
|
627 |
718 |
1e-3 |
SMART |
|
coiled coil region
|
856 |
883 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carcinoma by promoting hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
C |
T |
12: 84,105,585 (GRCm39) |
Q351* |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,143,812 (GRCm39) |
H993L |
possibly damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,338,286 (GRCm39) |
|
probably benign |
Het |
| Cd81 |
T |
C |
7: 142,619,015 (GRCm39) |
I13T |
probably damaging |
Het |
| Clasp2 |
T |
A |
9: 113,709,057 (GRCm39) |
D633E |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,770,316 (GRCm39) |
E23G |
probably damaging |
Het |
| Dnah3 |
G |
T |
7: 119,566,802 (GRCm39) |
L2475I |
probably benign |
Het |
| Fscn2 |
A |
G |
11: 120,253,025 (GRCm39) |
D164G |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,881,755 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,874,482 (GRCm39) |
S1629T |
probably benign |
Het |
| Mpp4 |
C |
A |
1: 59,197,738 (GRCm39) |
|
probably benign |
Het |
| Nmi |
T |
A |
2: 51,848,976 (GRCm39) |
N38I |
probably damaging |
Het |
| Nod2 |
T |
A |
8: 89,390,370 (GRCm39) |
L226M |
possibly damaging |
Het |
| Notch4 |
T |
C |
17: 34,796,978 (GRCm39) |
S909P |
probably damaging |
Het |
| Oas1a |
A |
T |
5: 121,043,755 (GRCm39) |
W126R |
probably benign |
Het |
| Pcdhb5 |
T |
C |
18: 37,453,943 (GRCm39) |
F108L |
probably benign |
Het |
| Plxna4 |
G |
A |
6: 32,142,091 (GRCm39) |
P1589S |
probably benign |
Het |
| Qtrt1 |
A |
G |
9: 21,323,245 (GRCm39) |
E32G |
probably benign |
Het |
| S100a3 |
A |
G |
3: 90,509,562 (GRCm39) |
E69G |
possibly damaging |
Het |
| Slc1a6 |
C |
A |
10: 78,629,137 (GRCm39) |
P185T |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,361,998 (GRCm39) |
I274F |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,340,752 (GRCm39) |
N468S |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,078,128 (GRCm39) |
L1567P |
probably damaging |
Het |
| Ugt2b37 |
G |
A |
5: 87,390,174 (GRCm39) |
S424L |
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,815 (GRCm39) |
K359N |
probably benign |
Het |
| Xpo1 |
T |
A |
11: 23,243,915 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Urgcp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Urgcp
|
APN |
11 |
5,666,448 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01832:Urgcp
|
APN |
11 |
5,667,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02519:Urgcp
|
APN |
11 |
5,667,745 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02616:Urgcp
|
APN |
11 |
5,667,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02619:Urgcp
|
APN |
11 |
5,665,752 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03135:Urgcp
|
APN |
11 |
5,666,091 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03209:Urgcp
|
APN |
11 |
5,667,238 (GRCm39) |
splice site |
probably null |
|
|
PIT4305001:Urgcp
|
UTSW |
11 |
5,667,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0279:Urgcp
|
UTSW |
11 |
5,666,989 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0555:Urgcp
|
UTSW |
11 |
5,667,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1110:Urgcp
|
UTSW |
11 |
5,666,004 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1595:Urgcp
|
UTSW |
11 |
5,667,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1808:Urgcp
|
UTSW |
11 |
5,667,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Urgcp
|
UTSW |
11 |
5,666,910 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1993:Urgcp
|
UTSW |
11 |
5,666,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3155:Urgcp
|
UTSW |
11 |
5,666,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Urgcp
|
UTSW |
11 |
5,667,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4209:Urgcp
|
UTSW |
11 |
5,665,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4210:Urgcp
|
UTSW |
11 |
5,665,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4211:Urgcp
|
UTSW |
11 |
5,665,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5335:Urgcp
|
UTSW |
11 |
5,667,754 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6242:Urgcp
|
UTSW |
11 |
5,666,691 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6971:Urgcp
|
UTSW |
11 |
5,668,115 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7411:Urgcp
|
UTSW |
11 |
5,668,116 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7460:Urgcp
|
UTSW |
11 |
5,666,622 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7734:Urgcp
|
UTSW |
11 |
5,666,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7809:Urgcp
|
UTSW |
11 |
5,673,133 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8540:Urgcp
|
UTSW |
11 |
5,667,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9052:Urgcp
|
UTSW |
11 |
5,673,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9511:Urgcp
|
UTSW |
11 |
5,668,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Urgcp
|
UTSW |
11 |
5,667,517 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9548:Urgcp
|
UTSW |
11 |
5,667,622 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0005:Urgcp
|
UTSW |
11 |
5,668,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Urgcp
|
UTSW |
11 |
5,667,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation