Incidental Mutation 'IGL00503:Urgcp'
| ID |
332504 |
| 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 # |
IGL00503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5663417-5712376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5666448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 630
(R630Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053427]
[ENSMUST00000093362]
[ENSMUST00000118076]
[ENSMUST00000120306]
[ENSMUST00000140922]
[ENSMUST00000170116]
|
| AlphaFold |
Q5NCI0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053427
AA Change: R630Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000055821
Gene: ENSMUSG00000049680
AA Change: R630Q
| 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 |
possibly damaging
Transcript: ENSMUST00000093362
AA Change: R673Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091053
Gene: ENSMUSG00000049680
AA Change: R673Q
| 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 |
possibly damaging
Transcript: ENSMUST00000118076
AA Change: R630Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113589
Gene: ENSMUSG00000049680
AA Change: R630Q
| 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 |
possibly damaging
Transcript: ENSMUST00000120306
AA Change: R630Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113060
Gene: ENSMUSG00000049680
AA Change: R630Q
| 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 |
possibly damaging
Transcript: ENSMUST00000170116
AA Change: R630Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133216
Gene: ENSMUSG00000049680
AA Change: R630Q
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
T |
A |
18: 69,083,173 (GRCm39) |
R14* |
probably null |
Het |
| Abcb5 |
A |
G |
12: 118,871,336 (GRCm39) |
S688P |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,281,843 (GRCm39) |
Q597L |
possibly damaging |
Het |
| Aga |
G |
A |
8: 53,971,956 (GRCm39) |
V210I |
probably benign |
Het |
| Akap17b |
A |
G |
X: 35,875,963 (GRCm39) |
S515P |
probably damaging |
Het |
| Brinp3 |
A |
T |
1: 146,776,905 (GRCm39) |
T451S |
probably benign |
Het |
| Cabcoco1 |
G |
T |
10: 68,377,635 (GRCm39) |
T18N |
possibly damaging |
Het |
| Ccar2 |
C |
T |
14: 70,379,980 (GRCm39) |
W402* |
probably null |
Het |
| Ccdc15 |
G |
A |
9: 37,231,769 (GRCm39) |
A185V |
probably damaging |
Het |
| Ccdc50 |
G |
A |
16: 27,228,102 (GRCm39) |
E90K |
probably damaging |
Het |
| Cckbr |
G |
A |
7: 105,083,449 (GRCm39) |
M217I |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,512,513 (GRCm39) |
T398A |
possibly damaging |
Het |
| Col4a1 |
A |
G |
8: 11,290,076 (GRCm39) |
|
probably benign |
Het |
| Cyp4v3 |
T |
A |
8: 45,760,058 (GRCm39) |
E498V |
probably damaging |
Het |
| Dgke |
T |
C |
11: 88,932,327 (GRCm39) |
I488V |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,617,934 (GRCm39) |
D443G |
probably damaging |
Het |
| Edem3 |
T |
G |
1: 151,694,264 (GRCm39) |
S852A |
probably benign |
Het |
| Fbxo8 |
T |
A |
8: 57,041,058 (GRCm39) |
M158K |
probably benign |
Het |
| Galnt15 |
C |
T |
14: 31,774,313 (GRCm39) |
T359M |
possibly damaging |
Het |
| Herc6 |
A |
G |
6: 57,584,130 (GRCm39) |
N330D |
probably benign |
Het |
| Kdf1 |
T |
C |
4: 133,255,468 (GRCm39) |
S62P |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,885,302 (GRCm39) |
I51N |
probably damaging |
Het |
| Mfsd6l |
T |
A |
11: 68,447,299 (GRCm39) |
I50N |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,928,679 (GRCm39) |
Y4C |
probably benign |
Het |
| Muc17 |
G |
T |
5: 137,165,971 (GRCm39) |
Y343* |
probably null |
Het |
| Myom2 |
A |
C |
8: 15,164,289 (GRCm39) |
|
probably null |
Het |
| Npat |
A |
T |
9: 53,483,949 (GRCm39) |
|
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,617 (GRCm39) |
I639F |
possibly damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,635,159 (GRCm39) |
S345G |
probably damaging |
Het |
| Pcyt1a |
A |
G |
16: 32,285,919 (GRCm39) |
T197A |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,784,401 (GRCm39) |
M316V |
probably benign |
Het |
| Plekhs1 |
T |
C |
19: 56,453,031 (GRCm39) |
|
probably null |
Het |
| Sema3e |
G |
T |
5: 14,290,586 (GRCm39) |
R557M |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,424,008 (GRCm39) |
N154S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,706 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spats1 |
A |
T |
17: 45,765,011 (GRCm39) |
|
probably null |
Het |
| Tnfaip6 |
T |
G |
2: 51,945,859 (GRCm39) |
V235G |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,538 (GRCm39) |
T447S |
probably damaging |
Het |
| Tut1 |
G |
A |
19: 8,936,460 (GRCm39) |
A95T |
probably damaging |
Het |
| Vmn1r125 |
G |
T |
7: 21,006,106 (GRCm39) |
M1I |
probably null |
Het |
| Vmn2r99 |
A |
G |
17: 19,599,116 (GRCm39) |
T267A |
probably benign |
Het |
| Wdr5 |
A |
G |
2: 27,410,879 (GRCm39) |
K162E |
probably benign |
Het |
| Zscan26 |
T |
G |
13: 21,629,271 (GRCm39) |
K285Q |
probably damaging |
Het |
|
| Other mutations in Urgcp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-08-05 |
Incidental Mutation