Mutagenetix > Incidental Mutation

Incidental Mutation 'R1110:Urgcp'

96666

Institutional Source

Beutler Lab

Gene Symbol

Urgcp

Ensembl Gene

ENSMUSG00000049680

Gene Name

upregulator of cell proliferation

Synonyms

2010005J08Rik

MMRRC Submission

039183-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R1110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5663417-5712376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5666004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 778 (N778S)

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: N778S

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055821
Gene: ENSMUSG00000049680
AA Change: N778S

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: N821S

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000091053
Gene: ENSMUSG00000049680
AA Change: N821S

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: N778S

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113589
Gene: ENSMUSG00000049680
AA Change: N778S

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: N778S

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113060
Gene: ENSMUSG00000049680
AA Change: N778S

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: N778S

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133216
Gene: ENSMUSG00000049680
AA Change: N778S

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

0.6809

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

97% (63/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	T	A	4: 155,989,856 (GRCm39)		probably null	Het
Acp2	A	G	2: 91,038,767 (GRCm39)		probably null	Het
Akap13	T	G	7: 75,261,125 (GRCm39)	S447A	possibly damaging	Het
Alk	G	A	17: 72,291,740 (GRCm39)		probably benign	Het
Arhgef39	T	C	4: 43,496,834 (GRCm39)	T327A	probably benign	Het
Calhm5	T	G	10: 33,972,013 (GRCm39)	I141L	probably benign	Het
Cdan1	G	A	2: 120,551,083 (GRCm39)	A1103V	probably damaging	Het
Cdh18	A	G	15: 23,474,403 (GRCm39)	T758A	probably benign	Het
Cdk17	T	A	10: 93,074,895 (GRCm39)	Y3*	probably null	Het
Cdon	T	C	9: 35,367,733 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,222,119 (GRCm39)	N460I	probably benign	Het
Cntrl	T	A	2: 35,050,639 (GRCm39)	C985S	possibly damaging	Het
Col6a2	T	C	10: 76,443,574 (GRCm39)	E497G	probably benign	Het
Crybg1	A	G	10: 43,875,089 (GRCm39)	M673T	possibly damaging	Het
Cyp2u1	A	G	3: 131,087,258 (GRCm39)	I441T	possibly damaging	Het
Disp2	T	C	2: 118,620,920 (GRCm39)	S551P	probably damaging	Het
Dock2	A	T	11: 34,206,535 (GRCm39)	F1354I	possibly damaging	Het
Dstyk	A	G	1: 132,381,063 (GRCm39)		probably benign	Het
Dzip1	T	C	14: 119,126,717 (GRCm39)	N527S	probably benign	Het
Eomes	A	G	9: 118,313,667 (GRCm39)	I571V	probably benign	Het
Fbxl13	T	C	5: 21,689,034 (GRCm39)	D758G	probably benign	Het
Frem1	T	C	4: 82,868,557 (GRCm39)	S1457G	probably damaging	Het
Gabbr2	C	T	4: 46,718,838 (GRCm39)	C613Y	probably damaging	Het
Gm9755	A	T	8: 67,967,710 (GRCm39)		noncoding transcript	Het
Hnrnpul2	A	G	19: 8,804,110 (GRCm39)	R570G	probably damaging	Het
Ift70a1	A	T	2: 75,810,320 (GRCm39)	C588S	probably damaging	Het
Igdcc4	A	G	9: 65,034,208 (GRCm39)	H674R	possibly damaging	Het
Kdm5d	T	A	Y: 910,539 (GRCm39)	L250H	probably damaging	Het
Kif1a	T	C	1: 92,951,175 (GRCm39)		probably benign	Het
Kmt2c	T	C	5: 25,519,360 (GRCm39)	N2250S	probably benign	Het
Kmt2e	C	T	5: 23,707,653 (GRCm39)	H1739Y	probably damaging	Het
Lmtk3	T	A	7: 45,444,427 (GRCm39)		probably benign	Het
Lpin3	A	G	2: 160,735,999 (GRCm39)	D93G	probably benign	Het
Myh10	T	C	11: 68,682,676 (GRCm39)		probably benign	Het
Myom2	G	A	8: 15,172,413 (GRCm39)	E1171K	probably benign	Het
Ncoa6	A	T	2: 155,253,440 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,563,563 (GRCm39)		probably benign	Het
Oit3	G	A	10: 59,264,016 (GRCm39)	R373C	probably damaging	Het
Olfml2a	A	T	2: 38,849,765 (GRCm39)	I494L	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or9r7	A	G	10: 129,962,522 (GRCm39)	Y135H	probably damaging	Het
Parp6	G	T	9: 59,556,847 (GRCm39)	C584F	probably damaging	Het
Pcgf2	A	G	11: 97,582,676 (GRCm39)		probably benign	Het
Pde3a	T	C	6: 141,405,042 (GRCm39)		probably benign	Het
Pibf1	C	T	14: 99,350,409 (GRCm39)	R186C	probably damaging	Het
Pitrm1	A	G	13: 6,608,280 (GRCm39)	D335G	probably benign	Het
Pkp4	T	C	2: 59,169,109 (GRCm39)	L752P	probably damaging	Het
Plcb3	C	A	19: 6,939,281 (GRCm39)	E566*	probably null	Het
Prune2	T	C	19: 17,102,586 (GRCm39)	S2582P	probably benign	Het
Reln	A	T	5: 22,239,773 (GRCm39)	D831E	probably benign	Het
Samd9l	T	A	6: 3,374,267 (GRCm39)	D998V	probably benign	Het
Sardh	G	A	2: 27,081,931 (GRCm39)	T865I	possibly damaging	Het
Setbp1	G	A	18: 78,901,075 (GRCm39)	T864I	probably damaging	Het
Slc9a1	T	A	4: 133,097,859 (GRCm39)	M2K	probably benign	Het
Sorbs2	A	G	8: 46,248,767 (GRCm39)	T593A	probably benign	Het
Spata31e3	A	T	13: 50,402,296 (GRCm39)	D83E	possibly damaging	Het
Svs5	A	T	2: 164,175,507 (GRCm39)	I120L	probably benign	Het
Tcl1b1	G	T	12: 105,126,074 (GRCm39)	V19F	probably damaging	Het
Vnn1	A	T	10: 23,775,499 (GRCm39)	I250F	possibly damaging	Het
Xntrpc	A	G	7: 101,732,181 (GRCm39)	R365G	possibly damaging	Het
Zfp84	T	A	7: 29,470,797 (GRCm39)	M1K	probably null	Het
Zfyve26	G	A	12: 79,326,841 (GRCm39)	R761C	probably damaging	Het
Zp3r	A	G	1: 130,505,621 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AAATGGCCTCACTGTAGCCCAAG -3'
(R):5'- TGCCTGGCACAGGGAAATCTACAC -3'

Sequencing Primer
(F):5'- TGTAGCCCAAGCTCACAGC -3'
(R):5'- CTGTGACCAGATCCTGGTAATAGAC -3'

Posted On

2014-01-05