Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02519:Urgcp'

296889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Urgcp

Ensembl Gene

ENSMUSG00000049680

Gene Name

upregulator of cell proliferation

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

IGL02519

Quality Score

Status

Chromosome

Chromosomal Location

5713417-5762376 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5717745 bp

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
4932438A13Rik	A	G	3: 36,895,315	E370G	probably damaging	Het
Adamts13	A	T	2: 26,978,675	I224F	probably damaging	Het
Adamts17	A	G	7: 67,124,973	T947A	possibly damaging	Het
Ankfn1	T	C	11: 89,405,678	E75G	probably benign	Het
Arfgef1	G	T	1: 10,209,668	H225N	probably benign	Het
Arsi	A	G	18: 60,917,067	S341G	probably damaging	Het
Aspm	T	A	1: 139,461,927		probably benign	Het
Cacna1i	C	T	15: 80,361,874	R490*	probably null	Het
Cd33	C	T	7: 43,528,729		probably benign	Het
Clmn	T	C	12: 104,791,853	I135V	probably damaging	Het
Crebbp	A	T	16: 4,101,593	N795K	possibly damaging	Het
Dhps	A	G	8: 85,073,299	D126G	probably damaging	Het
Dlg2	G	T	7: 91,940,115	V196L	possibly damaging	Het
Dsg1c	T	A	18: 20,283,733	I897N	probably damaging	Het
Dzip3	A	G	16: 48,928,396	L1059S	probably damaging	Het
Epha7	A	T	4: 28,821,494	T220S	possibly damaging	Het
Fgf17	A	G	14: 70,638,528	I88T	probably damaging	Het
G3bp2	A	G	5: 92,066,524	V137A	possibly damaging	Het
Gnal	G	A	18: 67,088,765	E80K	unknown	Het
Hectd1	T	G	12: 51,769,111	S1393R	probably damaging	Het
Igsf6	T	C	7: 121,068,273	I173M	possibly damaging	Het
Il2ra	A	C	2: 11,683,090	E227A	possibly damaging	Het
Iqcf6	C	T	9: 106,627,280	R48C	probably damaging	Het
Kdm3a	G	T	6: 71,611,586	Q480K	probably benign	Het
Larp4b	C	A	13: 9,158,580	A423E	probably benign	Het
Magea6	T	C	X: 154,924,745	D105G	probably benign	Het
Nop53	C	A	7: 15,939,272		probably benign	Het
Olfr307	A	T	7: 86,335,581	F272I	probably benign	Het
Olfr338	T	C	2: 36,377,313	L179P	possibly damaging	Het
Pgghg	A	G	7: 140,944,981	T352A	possibly damaging	Het
Setd2	T	C	9: 110,553,116	S1464P	probably damaging	Het
Sspo	C	A	6: 48,484,828	T3609N	probably damaging	Het
Sulf1	T	A	1: 12,838,363	Y533*	probably null	Het
Thsd7b	A	G	1: 129,613,195	S346G	probably benign	Het
Tmem161b	T	A	13: 84,294,744	L261Q	probably damaging	Het
Tmem63b	T	A	17: 45,665,208	T493S	possibly damaging	Het
Tmprss11d	A	T	5: 86,306,305	C214S	probably damaging	Het
Trim16	A	T	11: 62,834,079	E144V	possibly damaging	Het
Unc13d	T	C	11: 116,070,533	Y356C	probably damaging	Het
Vmn2r111	T	C	17: 22,548,339	I726V	possibly damaging	Het
Zzz3	A	T	3: 152,427,390	E28D	probably damaging	Het

Other mutations in Urgcp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Urgcp	APN	11	5716448	missense	possibly damaging	0.94
IGL01832:Urgcp	APN	11	5717325	missense	probably damaging	0.99
IGL02299:Urgcp	APN	11	5717573	missense	probably damaging	1.00
IGL02616:Urgcp	APN	11	5717400	missense	probably damaging	0.99
IGL02619:Urgcp	APN	11	5715752	missense	possibly damaging	0.87
IGL03135:Urgcp	APN	11	5716091	missense	possibly damaging	0.79
IGL03209:Urgcp	APN	11	5717238	splice site	probably null
PIT4305001:Urgcp	UTSW	11	5717996	missense	probably damaging	1.00
R0279:Urgcp	UTSW	11	5716989	missense	probably benign	0.14
R0555:Urgcp	UTSW	11	5717477	missense	probably damaging	1.00
R1110:Urgcp	UTSW	11	5716004	missense	probably benign	0.09
R1595:Urgcp	UTSW	11	5717447	missense	probably damaging	1.00
R1808:Urgcp	UTSW	11	5717242	missense	probably damaging	1.00
R1891:Urgcp	UTSW	11	5716910	missense	probably benign	0.43
R1993:Urgcp	UTSW	11	5716526	missense	probably damaging	1.00
R3155:Urgcp	UTSW	11	5716327	missense	probably damaging	1.00
R3769:Urgcp	UTSW	11	5717000	missense	probably damaging	1.00
R4209:Urgcp	UTSW	11	5715878	missense	probably damaging	0.99
R4210:Urgcp	UTSW	11	5715878	missense	probably damaging	0.99
R4211:Urgcp	UTSW	11	5715878	missense	probably damaging	0.99
R5335:Urgcp	UTSW	11	5717754	missense	possibly damaging	0.66
R6242:Urgcp	UTSW	11	5716691	missense	probably benign	0.34
R6971:Urgcp	UTSW	11	5718115	missense	probably benign	0.34
R7411:Urgcp	UTSW	11	5718116	missense	probably benign	0.10
R7460:Urgcp	UTSW	11	5716622	missense	possibly damaging	0.88
R7734:Urgcp	UTSW	11	5716406	missense	probably benign	0.00
R7809:Urgcp	UTSW	11	5723133	missense	probably benign	0.02
R8540:Urgcp	UTSW	11	5717915	missense	probably damaging	1.00
R9052:Urgcp	UTSW	11	5723153	missense	probably damaging	1.00
X0005:Urgcp	UTSW	11	5718231	missense	probably damaging	1.00
Z1176:Urgcp	UTSW	11	5717103	missense	probably damaging	1.00

Posted On

2015-04-16