Incidental Mutation 'IGL03209:Urgcp'
| ID |
413238 |
| 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: 0.123)
|
| Stock # |
IGL03209
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5663417-5712376 bp(-) (GRCm39) |
| Type of Mutation |
splice site (799 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 5667238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053427]
[ENSMUST00000093362]
[ENSMUST00000118076]
[ENSMUST00000120306]
[ENSMUST00000140922]
[ENSMUST00000170116]
|
| AlphaFold |
Q5NCI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053427
AA Change: I367V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000055821
Gene: ENSMUSG00000049680
AA Change: I367V
| 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: ENSMUST00000093362
AA Change: I410V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000091053
Gene: ENSMUSG00000049680
AA Change: I410V
| 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 benign
Transcript: ENSMUST00000118076
AA Change: I367V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113589
Gene: ENSMUSG00000049680
AA Change: I367V
| 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: ENSMUST00000120306
AA Change: I367V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113060
Gene: ENSMUSG00000049680
AA Change: I367V
| 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 null
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 benign
Transcript: ENSMUST00000170116
AA Change: I367V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000133216
Gene: ENSMUSG00000049680
AA Change: I367V
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
C |
T |
2: 26,882,973 (GRCm39) |
A841V |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,576,955 (GRCm39) |
|
probably benign |
Het |
| Arc |
A |
T |
15: 74,543,833 (GRCm39) |
L130Q |
probably damaging |
Het |
| Arhgap28 |
C |
T |
17: 68,175,951 (GRCm39) |
V383I |
probably damaging |
Het |
| Atf6 |
T |
C |
1: 170,662,463 (GRCm39) |
S266G |
probably benign |
Het |
| Cd59b |
A |
G |
2: 103,914,905 (GRCm39) |
E101G |
probably benign |
Het |
| Cdc26 |
T |
C |
4: 62,313,251 (GRCm39) |
K30R |
possibly damaging |
Het |
| Clns1a |
A |
G |
7: 97,360,937 (GRCm39) |
D103G |
probably null |
Het |
| Crispld2 |
C |
A |
8: 120,757,837 (GRCm39) |
A394E |
possibly damaging |
Het |
| Cyp51 |
A |
T |
5: 4,154,195 (GRCm39) |
L38H |
probably damaging |
Het |
| Dnah7a |
T |
G |
1: 53,725,773 (GRCm39) |
|
probably benign |
Het |
| Fbxw2 |
T |
C |
2: 34,712,675 (GRCm39) |
R129G |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,439,294 (GRCm39) |
Q234R |
probably damaging |
Het |
| Gdpgp1 |
A |
G |
7: 79,888,847 (GRCm39) |
T293A |
probably damaging |
Het |
| Hspa12a |
T |
G |
19: 58,810,493 (GRCm39) |
|
probably null |
Het |
| Ier5l |
G |
T |
2: 30,363,067 (GRCm39) |
D319E |
possibly damaging |
Het |
| Iigp1c |
T |
A |
18: 60,379,143 (GRCm39) |
I226N |
probably damaging |
Het |
| Ikzf1 |
T |
C |
11: 11,650,226 (GRCm39) |
V3A |
probably benign |
Het |
| Itga2 |
T |
C |
13: 115,017,168 (GRCm39) |
N180D |
probably damaging |
Het |
| Lipt1 |
T |
C |
1: 37,914,150 (GRCm39) |
S69P |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,022,565 (GRCm39) |
I734V |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,049,114 (GRCm39) |
T871A |
probably benign |
Het |
| Ndufs1 |
A |
T |
1: 63,203,896 (GRCm39) |
C129S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,180,831 (GRCm39) |
F1232I |
probably damaging |
Het |
| Ngly1 |
T |
A |
14: 16,281,831 (GRCm38) |
Y362* |
probably null |
Het |
| Or2h2c |
A |
T |
17: 37,422,413 (GRCm39) |
S154T |
probably benign |
Het |
| Or5ak23 |
A |
T |
2: 85,244,723 (GRCm39) |
S167T |
probably benign |
Het |
| Patj |
A |
G |
4: 98,353,377 (GRCm39) |
D640G |
probably null |
Het |
| Plxnd1 |
A |
T |
6: 115,939,318 (GRCm39) |
M1502K |
probably damaging |
Het |
| Sccpdh |
T |
C |
1: 179,514,238 (GRCm39) |
V429A |
possibly damaging |
Het |
| Slc25a48 |
T |
C |
13: 56,618,272 (GRCm39) |
V303A |
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,959,897 (GRCm39) |
D212G |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,078,160 (GRCm39) |
|
probably benign |
Het |
| Tmem65 |
A |
G |
15: 58,656,751 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,002,740 (GRCm39) |
|
probably null |
Het |
| Trim36 |
T |
C |
18: 46,300,575 (GRCm39) |
T687A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,239,351 (GRCm39) |
D3471E |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,466,231 (GRCm39) |
I2155F |
probably damaging |
Het |
| Zfp831 |
T |
A |
2: 174,487,059 (GRCm39) |
V578E |
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 |
|
IGL02299:Urgcp
|
APN |
11 |
5,667,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation