Incidental Mutation 'IGL00507:Ppil1'
ID13112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppil1
Ensembl Gene ENSMUSG00000024007
Gene Namepeptidylprolyl isomerase (cyclophilin)-like 1
SynonymsCypl1, 1110060O10Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.820) question?
Stock #IGL00507
Quality Score
Status
Chromosome17
Chromosomal Location29250803-29264158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29251701 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 102 (N102S)
Ref Sequence ENSEMBL: ENSMUSP00000024802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024802] [ENSMUST00000135123]
Predicted Effect probably damaging
Transcript: ENSMUST00000024802
AA Change: N102S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024802
Gene: ENSMUSG00000024007
AA Change: N102S

DomainStartEndE-ValueType
Pfam:Pro_isomerase 13 163 5.8e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135123
SMART Domains Protein: ENSMUSP00000115705
Gene: ENSMUSG00000024007

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136811
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 is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 C T 9: 54,622,428 probably benign Het
Adgrb3 T A 1: 25,074,715 R1450S possibly damaging Het
Apc A G 18: 34,316,926 I2258V probably benign Het
Atxn2l C A 7: 126,496,584 A374S possibly damaging Het
Cacna1a T A 8: 84,571,208 Y1182* probably null Het
Cc2d1b G T 4: 108,629,730 A647S probably damaging Het
Csn2 A G 5: 87,694,773 S116P probably benign Het
Eya4 G A 10: 23,157,536 Q163* probably null Het
Fam47c A T X: 78,738,325 D171V probably benign Het
Fhdc1 A T 3: 84,448,800 C446S probably damaging Het
Fkbp9 T A 6: 56,850,701 V169E probably damaging Het
Fras1 A T 5: 96,778,189 I3751F probably damaging Het
Gkn1 T C 6: 87,346,339 Y164C probably damaging Het
Hs3st5 T C 10: 36,832,922 I151T probably benign Het
Ighv8-6 A T 12: 115,165,852 S95T probably damaging Het
Loxhd1 A G 18: 77,332,567 I296V probably benign Het
Lrrc66 T C 5: 73,607,114 E862G probably benign Het
Ltbp3 T C 19: 5,756,016 V934A probably damaging Het
Mpp3 A T 11: 102,002,103 I501K possibly damaging Het
Mroh2b C T 15: 4,962,127 T1569I probably damaging Het
Nup133 A T 8: 123,918,967 Y626* probably null Het
Pak3 T A X: 143,789,333 N477K probably damaging Het
Plod3 A G 5: 136,996,176 H714R possibly damaging Het
Rapgef6 A T 11: 54,664,109 R996* probably null Het
Scd3 G A 19: 44,235,834 D169N probably damaging Het
Sgo2a T A 1: 58,016,594 F646I probably damaging Het
Slc5a8 A G 10: 88,908,040 Y346C possibly damaging Het
Slc7a15 A T 12: 8,535,474 V49E probably damaging Het
Stard8 G A X: 99,069,335 E649K probably damaging Het
Other mutations in Ppil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Ppil1 APN 17 29263888 missense possibly damaging 0.55
IGL01638:Ppil1 APN 17 29261792 missense probably benign 0.09
IGL01854:Ppil1 APN 17 29263888 missense possibly damaging 0.55
IGL03367:Ppil1 APN 17 29252244 splice site probably benign
ANU22:Ppil1 UTSW 17 29263888 missense possibly damaging 0.55
R0068:Ppil1 UTSW 17 29252256 missense probably damaging 0.98
R0068:Ppil1 UTSW 17 29252256 missense probably damaging 0.98
R1716:Ppil1 UTSW 17 29261835 missense possibly damaging 0.94
R6597:Ppil1 UTSW 17 29261878 missense probably benign 0.01
R6598:Ppil1 UTSW 17 29261878 missense probably benign 0.01
R7880:Ppil1 UTSW 17 29261788 missense probably damaging 1.00
R8183:Ppil1 UTSW 17 29262079 splice site probably null
Posted On2012-12-06