Incidental Mutation 'IGL01832:Urgcp'
ID 154802
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL01832
Quality Score
Status
Chromosome 11
Chromosomal Location 5663417-5712376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5667325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 338 (T338A)
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: T338A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055821
Gene: ENSMUSG00000049680
AA Change: T338A

DomainStartEndE-ValueType
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: T381A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091053
Gene: ENSMUSG00000049680
AA Change: T381A

DomainStartEndE-ValueType
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: T338A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113589
Gene: ENSMUSG00000049680
AA Change: T338A

DomainStartEndE-ValueType
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: T338A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113060
Gene: ENSMUSG00000049680
AA Change: T338A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Blast:PGAM 1 99 7e-43 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149980
Predicted Effect probably damaging
Transcript: ENSMUST00000170116
AA Change: T338A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133216
Gene: ENSMUSG00000049680
AA Change: T338A

DomainStartEndE-ValueType
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Urgcp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Urgcp APN 11 5,666,448 (GRCm39) missense possibly damaging 0.94
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
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
Posted On 2014-02-04