Incidental Mutation 'IGL02616:Urgcp'
ID |
300662 |
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 # |
IGL02616
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
5663417-5712376 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5667400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 313
(S313P)
|
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: S313P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000055821 Gene: ENSMUSG00000049680 AA Change: S313P
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: S356P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091053 Gene: ENSMUSG00000049680 AA Change: S356P
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: S313P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113589 Gene: ENSMUSG00000049680 AA Change: S313P
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: S313P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113060 Gene: ENSMUSG00000049680 AA Change: S313P
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: S313P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133216 Gene: ENSMUSG00000049680 AA Change: S313P
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
G |
6: 83,138,644 (GRCm39) |
R190G |
probably benign |
Het |
4931406B18Rik |
T |
C |
7: 43,150,437 (GRCm39) |
|
probably null |
Het |
Adcy4 |
T |
C |
14: 56,020,971 (GRCm39) |
|
probably null |
Het |
Ahnak |
C |
A |
19: 8,982,991 (GRCm39) |
P1425Q |
probably benign |
Het |
Arih1 |
A |
G |
9: 59,319,759 (GRCm39) |
V285A |
probably benign |
Het |
Atp13a1 |
T |
C |
8: 70,257,963 (GRCm39) |
V906A |
probably benign |
Het |
Atp2a2 |
A |
T |
5: 122,599,747 (GRCm39) |
I548N |
probably benign |
Het |
C2cd5 |
A |
T |
6: 142,980,837 (GRCm39) |
S643T |
probably benign |
Het |
Calcoco1 |
T |
C |
15: 102,624,285 (GRCm39) |
D210G |
probably damaging |
Het |
Cep128 |
A |
G |
12: 91,263,032 (GRCm39) |
I289T |
probably benign |
Het |
Ces1c |
C |
T |
8: 93,833,243 (GRCm39) |
M407I |
probably benign |
Het |
Cntln |
T |
G |
4: 85,033,689 (GRCm39) |
|
probably null |
Het |
Cypt12 |
T |
A |
3: 18,002,892 (GRCm39) |
H88Q |
possibly damaging |
Het |
Ddc |
T |
A |
11: 11,830,645 (GRCm39) |
|
probably benign |
Het |
Dnajb12 |
T |
C |
10: 59,728,685 (GRCm39) |
|
probably null |
Het |
Gata2 |
A |
G |
6: 88,182,462 (GRCm39) |
T477A |
possibly damaging |
Het |
Gckr |
A |
G |
5: 31,484,419 (GRCm39) |
D619G |
probably benign |
Het |
Gm5699 |
A |
T |
1: 31,037,432 (GRCm39) |
|
noncoding transcript |
Het |
Gm8257 |
T |
A |
14: 44,892,683 (GRCm39) |
S106C |
probably damaging |
Het |
Gpr15 |
A |
C |
16: 58,538,567 (GRCm39) |
L174R |
probably damaging |
Het |
Hnrnph3 |
T |
A |
10: 62,855,264 (GRCm39) |
H7L |
possibly damaging |
Het |
Ide |
A |
T |
19: 37,275,455 (GRCm39) |
I518N |
unknown |
Het |
Igdcc4 |
G |
A |
9: 65,040,360 (GRCm39) |
G957D |
probably damaging |
Het |
Igsf10 |
G |
A |
3: 59,226,027 (GRCm39) |
P2549S |
probably benign |
Het |
Kcnj9 |
A |
G |
1: 172,153,531 (GRCm39) |
S198P |
probably damaging |
Het |
Lclat1 |
T |
C |
17: 73,476,528 (GRCm39) |
I45T |
probably benign |
Het |
Met |
T |
C |
6: 17,553,346 (GRCm39) |
L1044S |
probably damaging |
Het |
Msh4 |
T |
C |
3: 153,563,160 (GRCm39) |
T739A |
probably benign |
Het |
Ncam1 |
T |
C |
9: 49,419,988 (GRCm39) |
E776G |
probably benign |
Het |
Ndufv3 |
G |
A |
17: 31,746,643 (GRCm39) |
V178M |
probably damaging |
Het |
Nlgn1 |
T |
C |
3: 25,488,409 (GRCm39) |
Y613C |
probably damaging |
Het |
Nmbr |
T |
C |
10: 14,636,431 (GRCm39) |
|
probably benign |
Het |
Orc1 |
T |
A |
4: 108,452,676 (GRCm39) |
W184R |
probably benign |
Het |
Pde6b |
T |
C |
5: 108,579,407 (GRCm39) |
S850P |
probably benign |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
T |
C |
11: 29,085,505 (GRCm39) |
|
probably benign |
Het |
Pomt2 |
T |
A |
12: 87,171,636 (GRCm39) |
H378L |
probably damaging |
Het |
Sh3gl3 |
C |
T |
7: 81,934,226 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,408,984 (GRCm39) |
N679K |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,019,850 (GRCm39) |
M572T |
probably benign |
Het |
Twf2 |
C |
T |
9: 106,089,955 (GRCm39) |
Q103* |
probably null |
Het |
Uncx |
T |
C |
5: 139,532,523 (GRCm39) |
I196T |
possibly damaging |
Het |
Vmn1r222 |
A |
T |
13: 23,416,311 (GRCm39) |
C301S |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,790,031 (GRCm39) |
Q325L |
possibly damaging |
Het |
Vps4a |
C |
T |
8: 107,768,909 (GRCm39) |
R236W |
probably damaging |
Het |
Wdr19 |
T |
A |
5: 65,380,924 (GRCm39) |
H344Q |
probably damaging |
Het |
Wiz |
A |
T |
17: 32,578,443 (GRCm39) |
D356E |
probably damaging |
Het |
Zc3h10 |
T |
C |
10: 128,380,751 (GRCm39) |
E202G |
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 |
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 |