Incidental Mutation 'R5335:Urgcp'
ID |
423485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Urgcp
|
Ensembl Gene |
ENSMUSG00000049680 |
Gene Name |
upregulator of cell proliferation |
Synonyms |
2010005J08Rik |
MMRRC Submission |
042916-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
R5335 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
5663417-5712376 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5667754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 195
(T195A)
|
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: T195A
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000055821 Gene: ENSMUSG00000049680 AA Change: T195A
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: T238A
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000091053 Gene: ENSMUSG00000049680 AA Change: T238A
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: T195A
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113589 Gene: ENSMUSG00000049680 AA Change: T195A
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: T195A
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113060 Gene: ENSMUSG00000049680 AA Change: T195A
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: T195A
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000133216 Gene: ENSMUSG00000049680 AA Change: T195A
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 |
0.0848 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (62/63) |
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 |
2010003K11Rik |
A |
G |
19: 4,548,292 (GRCm39) |
W86R |
probably damaging |
Het |
Ankrd6 |
T |
C |
4: 32,818,651 (GRCm39) |
E225G |
probably damaging |
Het |
Atxn10 |
A |
G |
15: 85,220,785 (GRCm39) |
|
probably null |
Het |
Bcas2 |
A |
G |
3: 103,082,951 (GRCm39) |
I146V |
probably damaging |
Het |
C2cd6 |
T |
A |
1: 59,043,393 (GRCm39) |
|
noncoding transcript |
Het |
Cachd1 |
G |
A |
4: 100,825,282 (GRCm39) |
V579I |
possibly damaging |
Het |
Col11a1 |
A |
G |
3: 113,888,889 (GRCm39) |
T311A |
unknown |
Het |
Cyp2c50 |
A |
T |
19: 40,079,060 (GRCm39) |
L134F |
probably benign |
Het |
Cyp2j11 |
T |
C |
4: 96,195,589 (GRCm39) |
H369R |
probably damaging |
Het |
Dis3 |
A |
G |
14: 99,335,089 (GRCm39) |
V171A |
possibly damaging |
Het |
Dnah12 |
A |
G |
14: 26,601,695 (GRCm39) |
N3718D |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,003,340 (GRCm39) |
I541V |
probably damaging |
Het |
Eif3i |
T |
C |
4: 129,488,979 (GRCm39) |
D86G |
probably benign |
Het |
Epc1 |
C |
T |
18: 6,490,689 (GRCm39) |
|
probably benign |
Het |
Epc2 |
A |
G |
2: 49,403,242 (GRCm39) |
N110S |
probably benign |
Het |
Epha8 |
A |
T |
4: 136,659,246 (GRCm39) |
L831Q |
probably damaging |
Het |
Esd |
G |
T |
14: 74,979,553 (GRCm39) |
R119I |
probably damaging |
Het |
F2 |
T |
C |
2: 91,465,277 (GRCm39) |
K96E |
possibly damaging |
Het |
Fcgbp |
T |
C |
7: 27,789,159 (GRCm39) |
V575A |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gemin6 |
T |
C |
17: 80,533,184 (GRCm39) |
V39A |
probably damaging |
Het |
Glmp |
G |
T |
3: 88,233,962 (GRCm39) |
|
probably benign |
Het |
Gm10306 |
C |
A |
4: 94,445,044 (GRCm39) |
|
probably benign |
Het |
Gm4846 |
A |
T |
1: 166,325,022 (GRCm39) |
L23* |
probably null |
Het |
Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
Ifi203 |
T |
C |
1: 173,754,485 (GRCm39) |
T749A |
possibly damaging |
Het |
Kcnip2 |
C |
A |
19: 45,782,685 (GRCm39) |
A133S |
probably benign |
Het |
Limch1 |
A |
T |
5: 67,039,300 (GRCm39) |
I76F |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,739,077 (GRCm39) |
|
probably null |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mtcl3 |
A |
T |
10: 29,023,102 (GRCm39) |
I150L |
probably benign |
Het |
Myh7 |
A |
G |
14: 55,224,020 (GRCm39) |
|
probably benign |
Het |
Odad2 |
A |
T |
18: 7,294,566 (GRCm39) |
Y16N |
probably benign |
Het |
Opcml |
A |
G |
9: 28,586,621 (GRCm39) |
D113G |
possibly damaging |
Het |
Or1j17 |
A |
T |
2: 36,578,106 (GRCm39) |
I31F |
probably benign |
Het |
Or1x2 |
A |
C |
11: 50,918,161 (GRCm39) |
N111H |
probably benign |
Het |
Or2ag18 |
A |
C |
7: 106,404,941 (GRCm39) |
S243A |
probably damaging |
Het |
Or2b6 |
A |
C |
13: 21,822,949 (GRCm39) |
V248G |
probably damaging |
Het |
Or51f1d |
A |
C |
7: 102,700,742 (GRCm39) |
D79A |
probably damaging |
Het |
Or52s19 |
A |
C |
7: 103,007,729 (GRCm39) |
L224R |
probably damaging |
Het |
Or5j1 |
T |
G |
2: 86,879,509 (GRCm39) |
K24Q |
probably damaging |
Het |
Pcdhb1 |
G |
T |
18: 37,400,308 (GRCm39) |
C753F |
probably benign |
Het |
Phip |
T |
C |
9: 82,782,809 (GRCm39) |
S879G |
possibly damaging |
Het |
Pi4k2b |
A |
G |
5: 52,899,098 (GRCm39) |
D13G |
possibly damaging |
Het |
Ptpn18 |
A |
T |
1: 34,502,259 (GRCm39) |
I68F |
probably damaging |
Het |
Rnf168 |
C |
T |
16: 32,117,402 (GRCm39) |
T321I |
possibly damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Srgap1 |
C |
T |
10: 121,621,282 (GRCm39) |
|
probably benign |
Het |
Sry |
A |
T |
Y: 2,663,647 (GRCm39) |
H4Q |
probably benign |
Het |
Taf2 |
G |
A |
15: 54,909,136 (GRCm39) |
A703V |
probably benign |
Het |
Taf5l |
A |
G |
8: 124,730,390 (GRCm39) |
F65L |
probably damaging |
Het |
Tcp10b |
T |
C |
17: 13,281,954 (GRCm39) |
|
probably null |
Het |
Timm44 |
A |
T |
8: 4,316,814 (GRCm39) |
I273N |
probably damaging |
Het |
Tspan4 |
A |
G |
7: 141,069,528 (GRCm39) |
T43A |
probably damaging |
Het |
Ube2r2 |
T |
C |
4: 41,190,846 (GRCm39) |
|
probably benign |
Het |
Vmn1r197 |
T |
C |
13: 22,512,361 (GRCm39) |
I94T |
probably damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,434,673 (GRCm39) |
I677K |
probably damaging |
Het |
Zfp853 |
T |
A |
5: 143,274,318 (GRCm39) |
H434L |
unknown |
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 |
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'- ATTAGTGCCTAAATTGAGGTCCC -3'
(R):5'- CTTTCTCAGAGCTGCCCATG -3'
Sequencing Primer
(F):5'- TAAATTGAGGTCCCGATGCC -3'
(R):5'- ATGCCTGATACGCCTGTGAAC -3'
|
Posted On |
2016-08-04 |