Incidental Mutation 'R7734:Urgcp'
| ID |
596070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Urgcp
|
| Ensembl Gene |
ENSMUSG00000049680 |
| Gene Name |
upregulator of cell proliferation |
| Synonyms |
2010005J08Rik |
| MMRRC Submission |
045790-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R7734 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5663417-5712376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5666406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 687
(D687G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091053
(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: D644G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000055821
Gene: ENSMUSG00000049680
AA Change: D644G
| 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: D687G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000091053
Gene: ENSMUSG00000049680
AA Change: D687G
| 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: D644G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113589
Gene: ENSMUSG00000049680
AA Change: D644G
| 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: D644G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113060
Gene: ENSMUSG00000049680
AA Change: D644G
| 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 |
probably benign
Transcript: ENSMUST00000170116
AA Change: D644G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133216
Gene: ENSMUSG00000049680
AA Change: D644G
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa2 |
T |
C |
9: 69,398,764 (GRCm39) |
Y333H |
probably benign |
Het |
| Arid1a |
A |
T |
4: 133,408,679 (GRCm39) |
F1558I |
unknown |
Het |
| Aste1 |
A |
G |
9: 105,274,678 (GRCm39) |
D306G |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,596,590 (GRCm39) |
V843A |
possibly damaging |
Het |
| Atrip |
T |
A |
9: 108,894,574 (GRCm39) |
H451L |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,295,664 (GRCm39) |
D200G |
probably damaging |
Het |
| Ceacam19 |
A |
C |
7: 19,620,520 (GRCm39) |
M37R |
probably benign |
Het |
| Cemip |
G |
A |
7: 83,606,872 (GRCm39) |
R782* |
probably null |
Het |
| Cpe |
A |
T |
8: 65,070,654 (GRCm39) |
I197N |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,445,850 (GRCm39) |
P3307T |
|
Het |
| Cyp4a12b |
C |
A |
4: 115,268,937 (GRCm39) |
Q20K |
possibly damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,715,878 (GRCm39) |
Y332H |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,298,163 (GRCm39) |
H569R |
probably damaging |
Het |
| Dcp1b |
A |
G |
6: 119,192,244 (GRCm39) |
S387G |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,819 (GRCm39) |
M590T |
possibly damaging |
Het |
| Dixdc1 |
T |
G |
9: 50,613,268 (GRCm39) |
Q229P |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,977,144 (GRCm38) |
R181G |
probably benign |
Het |
| Dzip1l |
A |
T |
9: 99,549,735 (GRCm39) |
D735V |
probably damaging |
Het |
| Edem3 |
T |
C |
1: 151,694,336 (GRCm39) |
S890P |
probably benign |
Het |
| Fuom |
A |
G |
7: 139,679,455 (GRCm39) |
L155P |
unknown |
Het |
| Gm6408 |
C |
A |
5: 146,421,160 (GRCm39) |
S263* |
probably null |
Het |
| Helz |
C |
G |
11: 107,576,248 (GRCm39) |
S1814R |
unknown |
Het |
| Hrc |
T |
C |
7: 44,986,100 (GRCm39) |
L417P |
probably benign |
Het |
| Igdcc4 |
A |
C |
9: 65,039,035 (GRCm39) |
H894P |
probably damaging |
Het |
| Lgr6 |
C |
A |
1: 134,930,981 (GRCm39) |
V296L |
probably damaging |
Het |
| Map3k4 |
T |
A |
17: 12,482,998 (GRCm39) |
Y573F |
probably damaging |
Het |
| Mest |
T |
C |
6: 30,746,299 (GRCm39) |
Y296H |
unknown |
Het |
| Mettl21a |
C |
T |
1: 64,647,288 (GRCm39) |
V90M |
probably damaging |
Het |
| Mfsd4b1 |
A |
T |
10: 39,883,374 (GRCm39) |
N25K |
probably damaging |
Het |
| Mmd |
T |
A |
11: 90,167,579 (GRCm39) |
F203I |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,401,108 (GRCm39) |
V3028M |
probably benign |
Het |
| Nlrp1a |
T |
A |
11: 70,998,826 (GRCm39) |
N859I |
unknown |
Het |
| Nrcam |
T |
C |
12: 44,584,034 (GRCm39) |
L36P |
possibly damaging |
Het |
| Nup107 |
C |
A |
10: 117,593,917 (GRCm39) |
E759* |
probably null |
Het |
| Or14a259 |
A |
G |
7: 86,013,476 (GRCm39) |
I23T |
not run |
Het |
| Pcdh7 |
T |
G |
5: 57,876,976 (GRCm39) |
I177S |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,365,938 (GRCm39) |
I221T |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,709,828 (GRCm39) |
N1497I |
probably damaging |
Het |
| Rmc1 |
T |
A |
18: 12,322,320 (GRCm39) |
I591N |
possibly damaging |
Het |
| Rpl4 |
T |
A |
9: 64,084,661 (GRCm39) |
H245Q |
probably benign |
Het |
| Rsf1 |
C |
CCACGGCGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
A |
G |
14: 65,968,600 (GRCm39) |
D291G |
possibly damaging |
Het |
| Septin14 |
T |
A |
5: 129,760,583 (GRCm39) |
I422L |
probably benign |
Het |
| Serpina1e |
T |
C |
12: 103,917,151 (GRCm39) |
K173E |
probably benign |
Het |
| Slc5a1 |
C |
T |
5: 33,318,279 (GRCm39) |
T644I |
probably benign |
Het |
| Slc6a13 |
A |
T |
6: 121,314,334 (GRCm39) |
T590S |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,578,658 (GRCm39) |
T938I |
possibly damaging |
Het |
| Stxbp1 |
A |
T |
2: 32,691,832 (GRCm39) |
D453E |
probably benign |
Het |
| Tcf12 |
C |
A |
9: 71,829,943 (GRCm39) |
V173L |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 49,099,368 (GRCm39) |
C146R |
probably damaging |
Het |
| Trim11 |
T |
C |
11: 58,869,180 (GRCm39) |
C39R |
probably damaging |
Het |
| Trim37 |
A |
G |
11: 87,068,821 (GRCm39) |
Y389C |
probably damaging |
Het |
| Ttll8 |
C |
T |
15: 88,798,368 (GRCm39) |
G789D |
probably damaging |
Het |
| Tubb2a |
C |
T |
13: 34,258,776 (GRCm39) |
S338N |
probably benign |
Het |
| Ulk2 |
G |
A |
11: 61,744,127 (GRCm39) |
Q50* |
probably null |
Het |
| Usp13 |
C |
T |
3: 32,892,054 (GRCm39) |
H78Y |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,296 (GRCm39) |
D223E |
probably benign |
Het |
| Vwc2 |
G |
A |
11: 11,065,929 (GRCm39) |
A6T |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGAGTCTATTACCAGGATCTG -3'
(R):5'- GATGGGCCAGTTCTATGAAGC -3'
Sequencing Primer
(F):5'- AGGATCTGGTCACAGCCC -3'
(R):5'- CCAGTTCTATGAAGCGGAGAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation