|Institutional Source||Beutler Lab|
|Gene Name||inositol 1,3,4-triphosphate 5/6 kinase|
|Is this an essential gene?||Probably essential (E-score: 0.926)|
|Stock #||R2926 (G1)|
|Chromosomal Location||102568582-102704930 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 102579130 bp|
|Amino Acid Change||Proline to Glutamine at position 238 (P238Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046027 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046518]|
|Predicted Effect||probably damaging
AA Change: P238Q
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: P238Q
|Meta Mutation Damage Score||0.1469|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
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'- GCAAGCTGACTCACTGAAAG -3'
(R):5'- GACAAATTGAAGCCGGGATCC -3'
(F):5'- ATTGTGTGGGCCCTTCTA -3'
(R):5'- CCTGATGGATGCACATCTCTATG -3'