|Institutional Source||Beutler Lab|
|Gene Name||inositol 1,4,5-trisphosphate 3-kinase C|
|Is this an essential gene?||Possibly essential (E-score: 0.621)|
|Stock #||R3852 (G1)|
|Chromosomal Location||27207172-27228661 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 27227612 bp|
|Amino Acid Change||Asparagine to Lysine at position 292 (N292K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003850 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003850]|
|Predicted Effect||probably benign
AA Change: N292K
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: N292K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (45/47)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]
PHENOTYPE: No overt phenotype reported. Thymocyte development was normal in homozygous null mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itpkc||
(F):5'- CTCAGATTCATCAAAAGAGGAGGC -3'
(R):5'- ATGCTTCCAGGACTCCACATG -3'
(F):5'- AAGAGAAGCCGCCAGTGCC -3'
(R):5'- ACATGACACCGACGGCTTCTG -3'