|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol 4-kinase alpha|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6958 (G1)|
|Chromosomal Location||17280351-17406314 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 17325227 bp|
|Amino Acid Change||Arginine to Glutamine at position 24 (R24Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000155976 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000231651] [ENSMUST00000232232]|
AA Change: R807Q
|Predicted Effect||probably damaging
AA Change: R24Q
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|Coding Region Coverage||
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'- CTGCCACCAACAGTTGTTTG -3'
(R):5'- AACGATACGGTCACCCCTGTAC -3'
(F):5'- GGAGTTGAAAAAGTCCCACATCTATC -3'
(R):5'- GTACGGGTTCTCTTCTCACTCTTG -3'