Incidental Mutation 'IGL01318:Prps1l1'
ID 73937
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prps1l1
Ensembl Gene ENSMUSG00000092305
Gene Name phosphoribosyl pyrophosphate synthetase 1-like 1
Synonyms 1700011K15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # IGL01318
Quality Score
Status
Chromosome 12
Chromosomal Location 35034760-35036435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35035377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 164 (N164I)
Ref Sequence ENSEMBL: ENSMUSP00000133931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134550]
AlphaFold Q8C5R8
Predicted Effect probably benign
Transcript: ENSMUST00000134550
AA Change: N164I

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133931
Gene: ENSMUSG00000092305
AA Change: N164I

DomainStartEndE-ValueType
Pfam:Pribosyltran_N 4 120 7.1e-49 PFAM
Pfam:Pribosyltran 139 261 1.5e-15 PFAM
Pfam:Pribosyl_synth 200 314 2.8e-39 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b T C 15: 90,112,592 (GRCm39) probably benign Het
Ambn T C 5: 88,608,554 (GRCm39) probably benign Het
Asap2 A G 12: 21,297,296 (GRCm39) D585G probably null Het
Chaf1a G T 17: 56,366,336 (GRCm39) probably benign Het
Ddhd1 A G 14: 45,854,008 (GRCm39) S443P probably damaging Het
Dlk2 A G 17: 46,613,390 (GRCm39) E215G probably damaging Het
Efhd2 T C 4: 141,587,176 (GRCm39) N202S probably benign Het
Gkap1 A T 13: 58,384,853 (GRCm39) I308K probably damaging Het
Gm9848 T A 13: 113,244,774 (GRCm39) noncoding transcript Het
Hmcn1 G A 1: 150,594,991 (GRCm39) T1826I probably damaging Het
Htr5a T C 5: 28,047,742 (GRCm39) V99A probably benign Het
Inha T G 1: 75,486,572 (GRCm39) F289C probably damaging Het
Kcna3 T C 3: 106,945,294 (GRCm39) V519A probably benign Het
Kcnma1 A T 14: 23,364,390 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,747 (GRCm39) V292A possibly damaging Het
Magea13 T A X: 57,964,829 (GRCm39) I196N probably damaging Het
Map2k4 A G 11: 65,647,089 (GRCm39) probably benign Het
Mfap2 G T 4: 140,742,856 (GRCm39) A175S possibly damaging Het
Milr1 G A 11: 106,656,071 (GRCm39) A114T possibly damaging Het
Mogs G T 6: 83,095,558 (GRCm39) V792F probably damaging Het
Nt5dc3 T A 10: 86,661,089 (GRCm39) M418K possibly damaging Het
Or5b12 A G 19: 12,897,490 (GRCm39) L61P probably damaging Het
Or7d10 A G 9: 19,832,054 (GRCm39) E183G probably benign Het
Or8h8 A T 2: 86,753,293 (GRCm39) N194K probably benign Het
Osbpl10 G A 9: 115,061,190 (GRCm39) W756* probably null Het
Pgam5 A G 5: 110,413,391 (GRCm39) Y235H probably damaging Het
Pgm5 G T 19: 24,793,842 (GRCm39) A274E probably damaging Het
Prex1 C A 2: 166,411,260 (GRCm39) probably benign Het
Ralbp1 C A 17: 66,171,277 (GRCm39) R232L probably damaging Het
Rnaseh2a C T 8: 85,691,752 (GRCm39) probably benign Het
Stard9 A T 2: 120,529,200 (GRCm39) H1819L possibly damaging Het
Stom T A 2: 35,226,889 (GRCm39) I15F probably benign Het
Tasor2 A C 13: 3,625,067 (GRCm39) S946A possibly damaging Het
Tph1 T G 7: 46,314,662 (GRCm39) T22P probably damaging Het
Uqcrfs1 A G 13: 30,724,904 (GRCm39) I212T probably benign Het
Ush2a T C 1: 188,546,550 (GRCm39) I3442T probably benign Het
Vinac1 C A 2: 128,880,622 (GRCm39) V435L probably benign Het
Vmn2r113 A G 17: 23,177,309 (GRCm39) I698V probably benign Het
Vmn2r75 T C 7: 85,814,774 (GRCm39) I240V probably benign Het
Wdr17 T C 8: 55,125,585 (GRCm39) T432A probably damaging Het
Other mutations in Prps1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Prps1l1 APN 12 35,035,631 (GRCm39) missense possibly damaging 0.78
R0379:Prps1l1 UTSW 12 35,035,077 (GRCm39) missense probably benign 0.33
R2109:Prps1l1 UTSW 12 35,035,521 (GRCm39) missense probably benign
R3909:Prps1l1 UTSW 12 35,035,797 (GRCm39) missense possibly damaging 0.84
R6129:Prps1l1 UTSW 12 35,035,329 (GRCm39) missense probably damaging 0.99
R7284:Prps1l1 UTSW 12 35,035,317 (GRCm39) missense possibly damaging 0.65
R7295:Prps1l1 UTSW 12 35,035,679 (GRCm39) missense probably benign
R7374:Prps1l1 UTSW 12 35,035,424 (GRCm39) missense possibly damaging 0.79
R8118:Prps1l1 UTSW 12 35,035,340 (GRCm39) missense probably damaging 0.96
R8240:Prps1l1 UTSW 12 35,035,140 (GRCm39) missense probably damaging 0.97
R8968:Prps1l1 UTSW 12 35,035,205 (GRCm39) missense probably damaging 1.00
R9026:Prps1l1 UTSW 12 35,035,546 (GRCm39) missense possibly damaging 0.58
R9416:Prps1l1 UTSW 12 35,035,089 (GRCm39) missense
R9463:Prps1l1 UTSW 12 35,035,559 (GRCm39) missense probably damaging 0.98
RF004:Prps1l1 UTSW 12 35,035,398 (GRCm39) missense probably damaging 0.99
Z1177:Prps1l1 UTSW 12 35,035,263 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07