|Institutional Source||Beutler Lab|
|Gene Name||inositol 1,4,5-trisphosphate 3-kinase B|
|Is this an essential gene?||Probably essential (E-score: 0.871)|
|Stock #||R5903 (G1)|
|Chromosomal Location||180330485-180424802 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 180413975 bp|
|Amino Acid Change||Valine to Leucine at position 737 (V737L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069851 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070181]|
|PDB Structure||Crystal Structure of the Catalytic and CaM-Binding domains of Inositol 1,4,5-Trisphosphate 3-Kinase B [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: V737L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V737L
|Meta Mutation Damage Score||0.3672|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in a block of thymocyte development at the double positive stage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itpkb||
(F):5'- ATGGCCGCATCCTTAAGAAGC -3'
(R):5'- AGGAGGTCATTGTCTTGCTTCC -3'
(F):5'- GCATCCTTAAGAAGCACTGTGAGTC -3'
(R):5'- CCACCTGACTAGTGTGCATC -3'