Incidental Mutation 'IGL02519:Urgcp'
ID |
296889 |
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 # |
IGL02519
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
5663417-5712376 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5667745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 198
(F198I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133216
(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: F198I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000055821 Gene: ENSMUSG00000049680 AA Change: F198I
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: F241I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000091053 Gene: ENSMUSG00000049680 AA Change: F241I
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: F198I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000113589 Gene: ENSMUSG00000049680 AA Change: F198I
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: F198I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000113060 Gene: ENSMUSG00000049680 AA Change: F198I
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 benign
Transcript: ENSMUST00000170116
AA Change: F198I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000133216 Gene: ENSMUSG00000049680 AA Change: F198I
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
A |
T |
2: 26,868,687 (GRCm39) |
I224F |
probably damaging |
Het |
Adamts17 |
A |
G |
7: 66,774,721 (GRCm39) |
T947A |
possibly damaging |
Het |
Ankfn1 |
T |
C |
11: 89,296,504 (GRCm39) |
E75G |
probably benign |
Het |
Arfgef1 |
G |
T |
1: 10,279,893 (GRCm39) |
H225N |
probably benign |
Het |
Arsi |
A |
G |
18: 61,050,139 (GRCm39) |
S341G |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,389,665 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,949,464 (GRCm39) |
E370G |
probably damaging |
Het |
Cacna1i |
C |
T |
15: 80,246,075 (GRCm39) |
R490* |
probably null |
Het |
Cd33 |
C |
T |
7: 43,178,153 (GRCm39) |
|
probably benign |
Het |
Clmn |
T |
C |
12: 104,758,112 (GRCm39) |
I135V |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,919,457 (GRCm39) |
N795K |
possibly damaging |
Het |
Dhps |
A |
G |
8: 85,799,928 (GRCm39) |
D126G |
probably damaging |
Het |
Dlg2 |
G |
T |
7: 91,589,323 (GRCm39) |
V196L |
possibly damaging |
Het |
Dsg1c |
T |
A |
18: 20,416,790 (GRCm39) |
I897N |
probably damaging |
Het |
Dzip3 |
A |
G |
16: 48,748,759 (GRCm39) |
L1059S |
probably damaging |
Het |
Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
Fgf17 |
A |
G |
14: 70,875,968 (GRCm39) |
I88T |
probably damaging |
Het |
G3bp2 |
A |
G |
5: 92,214,383 (GRCm39) |
V137A |
possibly damaging |
Het |
Gnal |
G |
A |
18: 67,221,836 (GRCm39) |
E80K |
unknown |
Het |
Hectd1 |
T |
G |
12: 51,815,894 (GRCm39) |
S1393R |
probably damaging |
Het |
Igsf6 |
T |
C |
7: 120,667,496 (GRCm39) |
I173M |
possibly damaging |
Het |
Il2ra |
A |
C |
2: 11,687,901 (GRCm39) |
E227A |
possibly damaging |
Het |
Iqcf6 |
C |
T |
9: 106,504,479 (GRCm39) |
R48C |
probably damaging |
Het |
Kdm3a |
G |
T |
6: 71,588,570 (GRCm39) |
Q480K |
probably benign |
Het |
Larp4b |
C |
A |
13: 9,208,616 (GRCm39) |
A423E |
probably benign |
Het |
Magea6 |
T |
C |
X: 153,707,741 (GRCm39) |
D105G |
probably benign |
Het |
Nop53 |
C |
A |
7: 15,673,197 (GRCm39) |
|
probably benign |
Het |
Or14a260 |
A |
T |
7: 85,984,789 (GRCm39) |
F272I |
probably benign |
Het |
Or1j10 |
T |
C |
2: 36,267,325 (GRCm39) |
L179P |
possibly damaging |
Het |
Pgghg |
A |
G |
7: 140,524,894 (GRCm39) |
T352A |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,382,184 (GRCm39) |
S1464P |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,461,762 (GRCm39) |
T3609N |
probably damaging |
Het |
Sulf1 |
T |
A |
1: 12,908,587 (GRCm39) |
Y533* |
probably null |
Het |
Thsd7b |
A |
G |
1: 129,540,932 (GRCm39) |
S346G |
probably benign |
Het |
Tmem161b |
T |
A |
13: 84,442,863 (GRCm39) |
L261Q |
probably damaging |
Het |
Tmem63b |
T |
A |
17: 45,976,134 (GRCm39) |
T493S |
possibly damaging |
Het |
Tmprss11d |
A |
T |
5: 86,454,164 (GRCm39) |
C214S |
probably damaging |
Het |
Trim16 |
A |
T |
11: 62,724,905 (GRCm39) |
E144V |
possibly damaging |
Het |
Unc13d |
T |
C |
11: 115,961,359 (GRCm39) |
Y356C |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,767,320 (GRCm39) |
I726V |
possibly damaging |
Het |
Zzz3 |
A |
T |
3: 152,133,027 (GRCm39) |
E28D |
probably damaging |
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 |
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 |