Incidental Mutation 'IGL01832:Urgcp'
ID154802
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Urgcp
Ensembl Gene ENSMUSG00000049680
Gene Nameupregulator of cell proliferation
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #IGL01832
Quality Score
Status
Chromosome11
Chromosomal Location5713417-5762376 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5717325 bp
ZygosityHeterozygous
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]
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: 77,259,129 T681I probably benign Het
Atg4b T C 1: 93,785,904 probably benign Het
Atp10b T A 11: 43,234,435 M1076K probably damaging Het
Atp23 A T 10: 126,894,345 N111K probably damaging Het
Atxn2 C A 5: 121,806,268 Y72* probably null Het
C1qtnf12 A G 4: 155,965,866 D220G probably damaging Het
C2cd3 A T 7: 100,427,214 T1171S possibly damaging Het
Ccdc15 G A 9: 37,311,344 R585W probably damaging Het
Cep152 A C 2: 125,618,494 Y179* probably null Het
Cpa2 T C 6: 30,551,999 S242P probably benign Het
Ctps2 G T X: 162,936,703 probably benign Het
Cttnbp2nl A G 3: 105,011,228 S99P probably damaging Het
Ddx20 A G 3: 105,679,011 S673P probably damaging Het
Erbb4 T C 1: 68,254,566 K722R possibly damaging Het
Ercc8 A G 13: 108,169,459 T123A probably damaging Het
Ermard T C 17: 15,059,849 V87A probably damaging Het
Fkbp8 A G 8: 70,531,545 H182R probably benign Het
Gab2 T C 7: 97,304,238 L606P probably damaging Het
Gls C T 1: 52,168,409 probably null Het
Hook3 A T 8: 26,072,365 M224K possibly damaging Het
Itga5 T A 15: 103,355,949 K298* probably null Het
Lrrc74a C A 12: 86,761,714 T422K probably benign Het
Myh9 A C 15: 77,791,753 D244E probably benign Het
Ndrg4 A G 8: 95,713,319 E349G probably damaging Het
Olfr1158 T A 2: 87,990,169 D19E probably benign Het
Otop2 T C 11: 115,326,943 S202P probably benign Het
Plppr2 C A 9: 21,943,446 R138S possibly damaging Het
Prkaca A C 8: 83,990,737 K206N probably damaging Het
Ptpro C T 6: 137,393,668 T589I possibly damaging Het
Ptprq A G 10: 107,565,839 probably null Het
Slc16a5 T C 11: 115,465,001 V96A probably benign Het
Ssfa2 G A 2: 79,651,418 V481M possibly damaging Het
Tcerg1 A G 18: 42,574,555 K1047E probably damaging Het
Tinag T C 9: 77,031,756 K147E probably benign Het
Wdr74 C T 19: 8,739,938 R299C probably damaging Het
Zzef1 C T 11: 72,875,066 S1473L probably damaging Het
Other mutations in Urgcp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Urgcp APN 11 5716448 missense possibly damaging 0.94
IGL02299:Urgcp APN 11 5717573 missense probably damaging 1.00
IGL02519:Urgcp APN 11 5717745 missense probably benign 0.02
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 unclassified 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
X0005:Urgcp UTSW 11 5718231 missense probably damaging 1.00
Z1176:Urgcp UTSW 11 5717103 missense probably damaging 1.00
Posted On2014-02-04