Incidental Mutation 'IGL03367:Ppil1'
ID 420155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppil1
Ensembl Gene ENSMUSG00000024007
Gene Name peptidylprolyl isomerase (cyclophilin)-like 1
Synonyms Cypl1, 1110060O10Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.798) question?
Stock # IGL03367
Quality Score
Status
Chromosome 17
Chromosomal Location 29469809-29482945 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 29471218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024802] [ENSMUST00000135123]
AlphaFold Q9D0W5
Predicted Effect probably benign
Transcript: ENSMUST00000024802
SMART Domains Protein: ENSMUSP00000024802
Gene: ENSMUSG00000024007

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,211,561 (GRCm39) probably benign Het
Adra1a G A 14: 66,875,438 (GRCm39) V138I possibly damaging Het
Alpk3 A G 7: 80,744,738 (GRCm39) I1278V probably benign Het
Asb6 A T 2: 30,714,691 (GRCm39) I185N possibly damaging Het
Atg9a A G 1: 75,164,601 (GRCm39) V121A probably benign Het
Cdc42bpb A G 12: 111,302,593 (GRCm39) Y155H probably damaging Het
Ceacam15 A C 7: 16,409,512 (GRCm39) S8A possibly damaging Het
Cep170b T A 12: 112,703,672 (GRCm39) D615E probably benign Het
Cntn6 G T 6: 104,781,299 (GRCm39) G462C probably damaging Het
Col8a2 A G 4: 126,205,991 (GRCm39) D667G probably damaging Het
Cyp2c29 A G 19: 39,317,659 (GRCm39) K382E probably damaging Het
Dgkd T C 1: 87,868,030 (GRCm39) probably null Het
Dkk2 C T 3: 131,883,838 (GRCm39) T246I probably damaging Het
Dnah5 T C 15: 28,234,473 (GRCm39) L294P possibly damaging Het
Erbb2 G T 11: 98,313,701 (GRCm39) probably null Het
Fn1 A G 1: 71,636,712 (GRCm39) F2147L probably benign Het
Gm11149 G A 9: 49,457,646 (GRCm39) probably benign Het
Gnrhr C T 5: 86,330,190 (GRCm39) V277I probably benign Het
H2-T10 T A 17: 36,431,285 (GRCm39) E129V possibly damaging Het
Hmgcr T C 13: 96,802,361 (GRCm39) T108A probably damaging Het
Hnrnph3 A T 10: 62,853,008 (GRCm39) I196N probably damaging Het
Insyn1 A G 9: 58,406,381 (GRCm39) H97R probably damaging Het
Kcnq5 T C 1: 21,473,289 (GRCm39) K653E probably damaging Het
Lgi2 C A 5: 52,719,502 (GRCm39) D100Y probably damaging Het
Mettl15 T A 2: 108,961,916 (GRCm39) H231L probably benign Het
Mthfd1l A G 10: 4,056,536 (GRCm39) probably benign Het
Pik3cg A G 12: 32,242,120 (GRCm39) S997P probably benign Het
Pla2g1b T C 5: 115,610,173 (GRCm39) C105R probably damaging Het
Pramel22 C T 4: 143,382,193 (GRCm39) V168I possibly damaging Het
Rbbp8 A G 18: 11,854,776 (GRCm39) T334A probably benign Het
Slc15a4 T C 5: 127,679,005 (GRCm39) Y445C probably damaging Het
Sox14 A C 9: 99,757,715 (GRCm39) I8S probably damaging Het
Spice1 A G 16: 44,176,541 (GRCm39) T44A probably damaging Het
Sult3a1 G T 10: 33,753,342 (GRCm39) V213L probably benign Het
Vkorc1l1 C A 5: 130,011,148 (GRCm39) Y111* probably null Het
Wdr47 G T 3: 108,537,089 (GRCm39) probably benign Het
Wdr90 A G 17: 26,066,765 (GRCm39) probably benign Het
Other mutations in Ppil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Ppil1 APN 17 29,470,675 (GRCm39) missense probably damaging 1.00
IGL01305:Ppil1 APN 17 29,482,862 (GRCm39) missense possibly damaging 0.55
IGL01638:Ppil1 APN 17 29,480,766 (GRCm39) missense probably benign 0.09
IGL01854:Ppil1 APN 17 29,482,862 (GRCm39) missense possibly damaging 0.55
ANU22:Ppil1 UTSW 17 29,482,862 (GRCm39) missense possibly damaging 0.55
R0068:Ppil1 UTSW 17 29,471,230 (GRCm39) missense probably damaging 0.98
R0068:Ppil1 UTSW 17 29,471,230 (GRCm39) missense probably damaging 0.98
R1716:Ppil1 UTSW 17 29,480,809 (GRCm39) missense possibly damaging 0.94
R6597:Ppil1 UTSW 17 29,480,852 (GRCm39) missense probably benign 0.01
R6598:Ppil1 UTSW 17 29,480,852 (GRCm39) missense probably benign 0.01
R7880:Ppil1 UTSW 17 29,480,762 (GRCm39) missense probably damaging 1.00
R8183:Ppil1 UTSW 17 29,481,053 (GRCm39) splice site probably null
R9607:Ppil1 UTSW 17 29,470,481 (GRCm39) makesense probably null
Posted On 2016-08-02