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|Institutional Source||Beutler Lab|
|Gene Name||inositol polyphosphate-5-phosphatase F|
|Synonyms||cI-27, 5830435P03Rik, SAC2|
|Is this an essential gene?||Possibly non essential (E-score: 0.293)|
|Stock #||R8213 (G1)|
|Chromosomal Location||128611328-128696425 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 128679805 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 510 (D510G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045910 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043138]|
|Predicted Effect||probably damaging
AA Change: D510G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D510G
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased isoproterenol-induced cardiac hypertrophy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Inpp5f||
(F):5'- AGGTCCCAAATTATGTCAGCTTTC -3'
(R):5'- TCCTGTCATAGCCAAACATTCC -3'
(F):5'- AGCTTTCCCTCTTTTTCTGTAATAC -3'
(R):5'- TAGCCAAACATTCCAGAGATAAATC -3'