|Institutional Source||Beutler Lab|
|Gene Name||peptidylprolyl isomerase E (cyclophilin E)|
|Essential gene?||Probably essential (E-score: 0.948)|
|Stock #||PIT4618001 (G1)|
|Chromosomal Location||123127115-123139951 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 123138868 bp (GRCm38)|
|Amino Acid Change||Threonine to Isoleucine at position 43 (T43I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030404 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030404]|
AA Change: T43I
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T43I
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities, and it also exhibits RNA-binding activity. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 1, has been identified. [provided by RefSeq, Aug 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppie||
(F):5'- GAGATTCCCCAGACTCAGAGTT -3'
(R):5'- AGGACTGGATGGAAAGATCCCT -3'
(F):5'- GATTCCCCAGACTCAGAGTTTAAAG -3'
(R):5'- GATGGAAAGATCCCTCCCTTTG -3'