|Institutional Source||Beutler Lab|
|Gene Name||inositol 1,3,4-triphosphate 5/6 kinase|
|Is this an essential gene?||Probably essential (E-score: 0.754)|
|Stock #||R1812 (G1)|
|Chromosomal Location||102568582-102704930 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 102574058 bp|
|Amino Acid Change||Glutamic Acid to Aspartic acid at position 255 (E255D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046027 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046518]|
|Predicted Effect||probably benign
AA Change: E255D
PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
AA Change: E255D
|Coding Region Coverage||
|Validation Efficiency||100% (1/1)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]
PHENOTYPE: Some mice homozygous for a gene trap allele exhibit neural tube defects (exencephaly and spina bifida), growth retardation, kyphoscoliosis, and rib formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itpk1||
(F):5'- AGCCAAGCTGACTCGTTTC -3'
(R):5'- ACTGATCTCAGACACTCCAGGG -3'
(F):5'- GTTTCCCATCCCCTGAAGATACCAG -3'
(R):5'- CAGGGCCTGGCAGCTTG -3'