Incidental Mutation 'IGL01323:Upp1'
ID74139
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Upp1
Ensembl Gene ENSMUSG00000020407
Gene Nameuridine phosphorylase 1
SynonymsUPase, UdRPase, Up
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.202) question?
Stock #IGL01323
Quality Score
Status
Chromosome11
Chromosomal Location9118103-9136170 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to G at 9136100 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Tryptophan at position 312 (*312W)
Ref Sequence ENSEMBL: ENSMUSP00000127473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020677] [ENSMUST00000101525] [ENSMUST00000130522] [ENSMUST00000164791] [ENSMUST00000170444] [ENSMUST00000172452]
Predicted Effect probably null
Transcript: ENSMUST00000020677
AA Change: *312W
SMART Domains Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407
AA Change: *312W

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 305 1.9e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000101525
AA Change: *312W
SMART Domains Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407
AA Change: *312W

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 305 1.9e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130522
SMART Domains Protein: ENSMUSP00000123285
Gene: ENSMUSG00000020407

DomainStartEndE-ValueType
PDB:3NBQ|D 1 137 9e-76 PDB
SCOP:d1k9sa_ 43 127 1e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146696
Predicted Effect probably null
Transcript: ENSMUST00000164791
AA Change: *312W
SMART Domains Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407
AA Change: *312W

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 305 1.9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166455
SMART Domains Protein: ENSMUSP00000129276
Gene: ENSMUSG00000020407

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 45 143 6.9e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170444
SMART Domains Protein: ENSMUSP00000125934
Gene: ENSMUSG00000020407

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 149 3.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172452
SMART Domains Protein: ENSMUSP00000129787
Gene: ENSMUSG00000020407

DomainStartEndE-ValueType
PDB:3NBQ|D 1 114 4e-60 PDB
SCOP:d1lx7a_ 35 114 7e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a targeted disruption have increased uridine concentration in tissues, urine and blood, along with disorders of various nucleotide metabolisms and decreased sensitivity to pentobarbital and 5-fluorouracil. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,871,495 D1272G probably damaging Het
Ascl2 A G 7: 142,968,388 S108P probably benign Het
B3gat1 T C 9: 26,755,910 V146A possibly damaging Het
Barhl1 C T 2: 28,915,546 S45N probably benign Het
Birc6 C T 17: 74,622,925 A2370V probably damaging Het
C1qtnf7 A G 5: 43,609,260 D67G possibly damaging Het
Cand2 A G 6: 115,785,125 T171A probably benign Het
Ccdc77 T C 6: 120,334,796 Q247R probably benign Het
Cenpp A T 13: 49,647,642 V100D probably damaging Het
Cep135 A G 5: 76,591,765 T3A probably benign Het
Eef2k T C 7: 120,884,815 probably benign Het
Fga T C 3: 83,030,211 S132P probably damaging Het
Gm4070 A G 7: 105,896,802 S2348P possibly damaging Het
Gpr6 T A 10: 41,071,559 N9I possibly damaging Het
Hacd3 A G 9: 64,998,305 F184L probably damaging Het
Heatr1 T C 13: 12,398,938 I132T possibly damaging Het
Igfbp7 A G 5: 77,352,037 probably benign Het
Ighv8-6 T C 12: 115,165,857 D93G possibly damaging Het
Izumo3 A G 4: 92,146,390 probably benign Het
Jade2 T C 11: 51,825,338 T347A possibly damaging Het
Kif18a A G 2: 109,298,442 T419A probably benign Het
Krt34 A G 11: 100,038,780 S267P possibly damaging Het
Krt4 T G 15: 101,920,281 K383Q probably damaging Het
Lgals7 G T 7: 28,865,564 E42D probably benign Het
Morc2b A G 17: 33,137,319 V493A possibly damaging Het
Mtif2 T A 11: 29,541,447 S557R probably damaging Het
Nup43 T A 10: 7,669,556 F83I probably benign Het
Olfr107 G T 17: 37,406,140 M197I probably benign Het
Oosp2 A G 19: 11,647,461 L155S probably damaging Het
Plxnd1 T A 6: 115,966,799 T1180S possibly damaging Het
Prpf39 T A 12: 65,042,724 F79I possibly damaging Het
Prph G A 15: 99,058,636 S465N possibly damaging Het
Purg A T 8: 33,386,603 I90L probably damaging Het
Pxdn C A 12: 29,987,137 Q305K probably benign Het
R3hdm1 G A 1: 128,216,543 S816N probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tmem201 G A 4: 149,719,588 probably benign Het
Tnfrsf22 G A 7: 143,643,374 P76L probably damaging Het
Triml1 T C 8: 43,138,563 probably null Het
Wdfy3 G T 5: 101,895,064 S1940R probably damaging Het
Xpc T C 6: 91,492,353 Y804C probably damaging Het
Xrn2 C T 2: 147,034,847 probably benign Het
Zfp106 A T 2: 120,524,464 D1275E possibly damaging Het
Other mutations in Upp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01870:Upp1 APN 11 9125700 critical splice donor site probably null
IGL02125:Upp1 APN 11 9125650 utr 5 prime probably benign
R0373:Upp1 UTSW 11 9129590 missense probably benign 0.01
R1501:Upp1 UTSW 11 9134708 splice site probably null
R1617:Upp1 UTSW 11 9134865 missense probably damaging 0.99
R1980:Upp1 UTSW 11 9134872 missense possibly damaging 0.67
R2018:Upp1 UTSW 11 9133240 missense possibly damaging 0.94
R2019:Upp1 UTSW 11 9133240 missense possibly damaging 0.94
R2214:Upp1 UTSW 11 9136033 missense probably benign
R3425:Upp1 UTSW 11 9125700 critical splice donor site probably null
R4063:Upp1 UTSW 11 9131709 missense probably damaging 1.00
R4247:Upp1 UTSW 11 9134815 missense probably benign
R4776:Upp1 UTSW 11 9135976 missense probably damaging 0.98
R5160:Upp1 UTSW 11 9135193 missense possibly damaging 0.68
R5500:Upp1 UTSW 11 9131774 missense probably damaging 1.00
R5514:Upp1 UTSW 11 9131771 missense probably damaging 1.00
R5677:Upp1 UTSW 11 9136025 missense probably benign
R6825:Upp1 UTSW 11 9131707 missense probably benign
R7325:Upp1 UTSW 11 9134743 missense probably damaging 0.98
X0022:Upp1 UTSW 11 9125681 missense probably benign 0.00
X0022:Upp1 UTSW 11 9125682 missense possibly damaging 0.53
X0027:Upp1 UTSW 11 9134857 missense probably benign
Posted On2013-10-07