|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol 4-kinase alpha|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R8048 (G1)|
|Chromosomal Location||17280351-17406314 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 17303127 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Leucine at position 1248 (F1248L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036162 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000232232]|
|AlphaFold||no structure available at present|
AA Change: F1248L
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pi4ka||
(F):5'- TAACAGCACACTCAGGTGC -3'
(R):5'- AGCATCAGAAGCAAGTCAGC -3'
(F):5'- TGCCCCAGAGAAATAGGGTCC -3'
(R):5'- GTGACACCTCACTACATCTGGATCG -3'