|Institutional Source||Beutler Lab|
|Gene Name||inositol 1,4,5-trisphosphate 3-kinase B|
|Is this an essential gene?||Probably essential (E-score: 0.784)|
|Stock #||R0471 (G1)|
|Chromosomal Location||180330485-180424802 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 180418255 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 779 (E779G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069851 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070181]|
|Predicted Effect||probably damaging
AA Change: E779G
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: E779G
|Meta Mutation Damage Score||0.204|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
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'- TGTCCTGAGTCAAAGCACAGCC -3'
(R):5'- CTGCACCTCACTAGCATGAGTCAAC -3'
(F):5'- GCACAGCCAACTCAGGG -3'
(R):5'- CCCTGTGGCAAGTCTATAAGC -3'