Incidental Mutation 'IGL00503:Urgcp'
ID332504
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: 0.128) question?
Stock #IGL00503
Quality Score
Status
Chromosome11
Chromosomal Location5713417-5762376 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 5716448 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 630 (R630Q)
Ref Sequence ENSEMBL: ENSMUSP00000133216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053427] [ENSMUST00000093362] [ENSMUST00000118076] [ENSMUST00000120306] [ENSMUST00000140922] [ENSMUST00000170116]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053427
AA Change: R630Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000055821
Gene: ENSMUSG00000049680
AA Change: R630Q

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 possibly damaging
Transcript: ENSMUST00000093362
AA Change: R673Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091053
Gene: ENSMUSG00000049680
AA Change: R673Q

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 possibly damaging
Transcript: ENSMUST00000118076
AA Change: R630Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113589
Gene: ENSMUSG00000049680
AA Change: R630Q

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 possibly damaging
Transcript: ENSMUST00000120306
AA Change: R630Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113060
Gene: ENSMUSG00000049680
AA Change: R630Q

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 possibly damaging
Transcript: ENSMUST00000170116
AA Change: R630Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133216
Gene: ENSMUSG00000049680
AA Change: R630Q

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 68,950,102 R14* probably null Het
Abcb5 A G 12: 118,907,601 S688P probably benign Het
Adgb T A 10: 10,406,099 Q597L possibly damaging Het
Aga G A 8: 53,518,921 V210I probably benign Het
Akap17b A G X: 36,612,310 S515P probably damaging Het
Brinp3 A T 1: 146,901,167 T451S probably benign Het
Cabcoco1 G T 10: 68,541,805 T18N possibly damaging Het
Ccar2 C T 14: 70,142,531 W402* probably null Het
Ccdc15 G A 9: 37,320,473 A185V probably damaging Het
Ccdc50 G A 16: 27,409,352 E90K probably damaging Het
Cckbr G A 7: 105,434,242 M217I probably benign Het
Clec16a A G 16: 10,694,649 T398A possibly damaging Het
Col4a1 A G 8: 11,240,076 probably benign Het
Cyp4v3 T A 8: 45,307,021 E498V probably damaging Het
Dgke T C 11: 89,041,501 I488V probably benign Het
Dip2c A G 13: 9,567,898 D443G probably damaging Het
Edem3 T G 1: 151,818,513 S852A probably benign Het
Fbxo8 T A 8: 56,588,023 M158K probably benign Het
Galnt15 C T 14: 32,052,356 T359M possibly damaging Het
Herc6 A G 6: 57,607,145 N330D probably benign Het
Kdf1 T C 4: 133,528,157 S62P probably damaging Het
Larp4 T A 15: 99,987,421 I51N probably damaging Het
Mfsd6l T A 11: 68,556,473 I50N probably damaging Het
Mroh2b A G 15: 4,899,197 Y4C probably benign Het
Muc3 G T 5: 137,137,123 Y343* probably null Het
Myom2 A C 8: 15,114,289 probably null Het
Npat A T 9: 53,572,649 probably benign Het
Pamr1 A T 2: 102,642,272 I639F possibly damaging Het
Pcsk2 A G 2: 143,793,239 S345G probably damaging Het
Pcyt1a A G 16: 32,467,101 T197A probably damaging Het
Pkd1 A G 17: 24,565,427 M316V probably benign Het
Plekhs1 T C 19: 56,464,599 probably null Het
Sema3e G T 5: 14,240,572 R557M probably damaging Het
Sgsm1 T C 5: 113,276,142 N154S probably benign Het
Smg1 A T 7: 118,185,483 probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Spats1 A T 17: 45,454,085 probably null Het
Tnfaip6 T G 2: 52,055,847 V235G probably damaging Het
Trim34a A T 7: 104,261,331 T447S probably damaging Het
Tut1 G A 19: 8,959,096 A95T probably damaging Het
Vmn1r125 G T 7: 21,272,181 M1I probably null Het
Vmn2r99 A G 17: 19,378,854 T267A probably benign Het
Wdr5 A G 2: 27,520,867 K162E probably benign Het
Zscan26 T G 13: 21,445,101 K285Q probably damaging Het
Other mutations in Urgcp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Urgcp APN 11 5717325 missense probably damaging 0.99
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 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
X0005:Urgcp UTSW 11 5718231 missense probably damaging 1.00
Z1176:Urgcp UTSW 11 5717103 missense probably damaging 1.00
Posted On2015-08-05