Incidental Mutation 'PIT4305001:Urgcp'
ID554567
Institutional Source Beutler Lab
Gene Symbol Urgcp
Ensembl Gene ENSMUSG00000049680
Gene Nameupregulator of cell proliferation
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #PIT4305001 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location5713417-5762376 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5717996 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 157 (Y157C)
Ref Sequence ENSEMBL: ENSMUSP00000091053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053427] [ENSMUST00000093362] [ENSMUST00000118076] [ENSMUST00000120306] [ENSMUST00000140922] [ENSMUST00000170116]
Predicted Effect probably damaging
Transcript: ENSMUST00000053427
AA Change: Y114C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055821
Gene: ENSMUSG00000049680
AA Change: Y114C

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: Y157C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091053
Gene: ENSMUSG00000049680
AA Change: Y157C

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: Y114C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113589
Gene: ENSMUSG00000049680
AA Change: Y114C

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: Y114C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113060
Gene: ENSMUSG00000049680
AA Change: Y114C

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 probably damaging
Transcript: ENSMUST00000170116
AA Change: Y114C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133216
Gene: ENSMUSG00000049680
AA Change: Y114C

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
  • 1x: 93.4%
  • 3x: 91.3%
  • 10x: 86.8%
  • 20x: 76.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 A G 1: 171,259,041 N801D probably benign Het
Adcy2 T C 13: 68,678,602 K661R probably benign Het
Akap1 A T 11: 88,844,378 M486K probably benign Het
Arhgap40 T A 2: 158,531,905 I202N probably benign Het
C1qtnf2 T A 11: 43,491,195 L248Q probably damaging Het
Casp1 A T 9: 5,306,135 H340L probably benign Het
Cd5 A G 19: 10,726,386 V104A possibly damaging Het
Celsr1 T A 15: 85,900,937 E3032V possibly damaging Het
Cts7 A G 13: 61,356,572 I59T probably damaging Het
Cutc G T 19: 43,768,269 A267S probably damaging Het
Dmwd A G 7: 19,080,718 Q431R probably damaging Het
Dnah6 T C 6: 73,065,755 N3280S probably benign Het
Dnah7b A T 1: 46,373,348 N4039I probably damaging Het
Dnaja4 T C 9: 54,710,634 I260T probably benign Het
Drd5 T C 5: 38,320,584 F307L probably damaging Het
Dsc2 C T 18: 20,046,243 S256N probably damaging Het
Dstyk G T 1: 132,455,896 E617* probably null Het
Dusp15 G A 2: 152,945,476 H72Y probably benign Het
Dysf C T 6: 84,100,234 R660* probably null Het
Fbxl13 T A 5: 21,522,148 I584L probably benign Het
Gm10354 T C 5: 14,978,790 D29G probably benign Het
Gsap T C 5: 21,186,409 L16P probably damaging Het
Hgsnat C T 8: 25,945,199 A636T possibly damaging Het
Hivep1 A G 13: 42,181,671 T161A Het
Hspg2 T C 4: 137,550,373 S2928P possibly damaging Het
Ifi214 G A 1: 173,527,919 P108S probably benign Het
Il17ra A T 6: 120,481,406 Y506F probably damaging Het
Il9r T A 11: 32,194,734 Q53L probably benign Het
Irf2bp2 C T 8: 126,592,659 G260R probably damaging Het
Jdp2 T A 12: 85,638,852 I129N probably damaging Het
Kif1b T C 4: 149,220,792 probably null Het
Klrd1 A G 6: 129,596,707 T120A unknown Het
Lfng A G 5: 140,612,528 N202D probably damaging Het
Ltbp3 A G 19: 5,752,067 E757G probably damaging Het
Ltn1 G A 16: 87,420,323 P342L probably damaging Het
Lum A C 10: 97,568,876 Y211S probably damaging Het
Ncapd2 G A 6: 125,184,027 R292* probably null Het
Nlrc4 T C 17: 74,446,309 T360A probably damaging Het
Olfr1231 T C 2: 89,303,383 I70V probably benign Het
Olfr850 T C 9: 19,478,061 Y63C probably damaging Het
Palm2 C A 4: 57,638,029 T22K possibly damaging Het
Pde3a A G 6: 141,492,310 D1035G probably benign Het
Phf20l1 A T 15: 66,613,052 K322I possibly damaging Het
Pik3r3 A C 4: 116,292,126 N349T probably benign Het
Poc1a A G 9: 106,349,829 Q420R Het
Prl7d1 A T 13: 27,714,337 M63K possibly damaging Het
Rap1gds1 C A 3: 138,956,300 M398I probably benign Het
Rapgef6 T A 11: 54,679,377 V1192D probably damaging Het
Rif1 T C 2: 52,111,958 V166A Het
Robo4 T C 9: 37,411,391 Y847H probably damaging Het
Sardh T C 2: 27,228,314 N468S probably damaging Het
Sema5a A G 15: 32,628,199 T553A probably benign Het
Serpina12 A G 12: 104,035,717 Y247H probably damaging Het
Ston2 G T 12: 91,648,502 D377E possibly damaging Het
Syne1 A G 10: 5,333,023 S1557P probably damaging Het
Syt6 C T 3: 103,575,453 R26W possibly damaging Het
Tep1 C T 14: 50,829,227 G2305R possibly damaging Het
Ticrr A G 7: 79,679,023 T637A possibly damaging Het
Tnn A T 1: 160,086,077 F1546Y possibly damaging Het
Tpr A G 1: 150,440,137 D2055G possibly damaging Het
Trim39 A G 17: 36,268,970 V31A possibly damaging Het
Trpc7 G T 13: 56,887,508 T204K probably benign Het
Vmn1r81 A T 7: 12,260,663 I6K probably benign Het
Other mutations in Urgcp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
X0005:Urgcp UTSW 11 5718231 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGAATCGGGCAACACAAG -3'
(R):5'- TGGAGACATACCAGGCACAG -3'

Sequencing Primer
(F):5'- CACAAGTGGGAGTGCAAACTGAC -3'
(R):5'- CCTGCAGATCAGTTTTGACAGCATG -3'
Posted On2019-06-07