Incidental Mutation 'R4211:Urgcp'
| ID |
319205 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5663417-5712376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 5665878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 820
(G820V)
|
| 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: G820V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055821
Gene: ENSMUSG00000049680
AA Change: G820V
| 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: G863V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091053
Gene: ENSMUSG00000049680
AA Change: G863V
| 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: G820V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113589
Gene: ENSMUSG00000049680
AA Change: G820V
| 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: G820V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113060
Gene: ENSMUSG00000049680
AA Change: G820V
| 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: G820V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133216
Gene: ENSMUSG00000049680
AA Change: G820V
| 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 |
|
| Meta Mutation Damage Score |
0.3710 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,283,209 (GRCm39) |
I166V |
probably benign |
Het |
| Albfm1 |
T |
G |
5: 90,712,096 (GRCm39) |
V63G |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,955,968 (GRCm39) |
E154G |
probably benign |
Het |
| Anpep |
A |
T |
7: 79,490,744 (GRCm39) |
Y257* |
probably null |
Het |
| Atp8b1 |
A |
T |
18: 64,686,118 (GRCm39) |
D688E |
probably damaging |
Het |
| Bub1b |
C |
A |
2: 118,461,459 (GRCm39) |
H670Q |
possibly damaging |
Het |
| Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,154,783 (GRCm39) |
|
probably null |
Het |
| Clcc1 |
A |
T |
3: 108,570,907 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Cr2 |
A |
C |
1: 194,838,636 (GRCm39) |
L671R |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,427,542 (GRCm39) |
V713A |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,422,210 (GRCm39) |
F65L |
probably benign |
Het |
| Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
| Dusp22 |
A |
T |
13: 30,892,726 (GRCm39) |
I168F |
probably benign |
Het |
| Ecel1 |
A |
G |
1: 87,079,872 (GRCm39) |
S414P |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,174,810 (GRCm39) |
F1968L |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,805,493 (GRCm39) |
T604I |
probably damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,374,547 (GRCm39) |
F66I |
possibly damaging |
Het |
| Hgf |
T |
C |
5: 16,819,991 (GRCm39) |
V574A |
probably damaging |
Het |
| Hoxa7 |
A |
T |
6: 52,193,605 (GRCm39) |
Y137* |
probably null |
Het |
| Ikbke |
T |
A |
1: 131,191,085 (GRCm39) |
I519F |
probably damaging |
Het |
| Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,738,070 (GRCm39) |
|
probably benign |
Het |
| Larp7 |
T |
A |
3: 127,340,603 (GRCm39) |
R112S |
probably benign |
Het |
| Lepr |
C |
T |
4: 101,590,611 (GRCm39) |
A63V |
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,660,428 (GRCm39) |
V238L |
probably damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,317,729 (GRCm39) |
E172G |
possibly damaging |
Het |
| Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
| Nek8 |
C |
A |
11: 78,061,309 (GRCm39) |
V379L |
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,658,945 (GRCm39) |
L356R |
probably damaging |
Het |
| Pard6b |
C |
T |
2: 167,940,943 (GRCm39) |
A310V |
probably benign |
Het |
| Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
| Phtf1 |
G |
A |
3: 103,910,919 (GRCm39) |
|
probably null |
Het |
| Plch1 |
C |
A |
3: 63,618,640 (GRCm39) |
D675Y |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,532,871 (GRCm39) |
H144R |
probably damaging |
Het |
| Rax |
T |
A |
18: 66,068,152 (GRCm39) |
N318Y |
unknown |
Het |
| Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
| Smarcd2 |
T |
A |
11: 106,157,731 (GRCm39) |
K138* |
probably null |
Het |
| Taar7e |
A |
T |
10: 23,913,932 (GRCm39) |
I141F |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,925,921 (GRCm39) |
W172R |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,415,856 (GRCm39) |
I226V |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
| Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
| Tfpt |
A |
G |
7: 3,623,386 (GRCm39) |
Y240H |
probably damaging |
Het |
| Tmod4 |
A |
G |
3: 95,035,140 (GRCm39) |
D215G |
probably benign |
Het |
| Top3b |
A |
G |
16: 16,700,396 (GRCm39) |
|
probably null |
Het |
| Zfand2b |
A |
T |
1: 75,146,454 (GRCm39) |
M110L |
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGTCACACCAGTCACAG -3'
(R):5'- AGCTGTTCTTCATGCGTTTCTAAGG -3'
Sequencing Primer
(F):5'- ACCAGTCACAGCCTGCG -3'
(R):5'- CCAGAACCTTCATGACCT -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation