|Institutional Source||Beutler Lab|
|Gene Name||FIG4 phosphoinositide 5-phosphatase|
|Essential gene?||Possibly essential (E-score: 0.605)|
|Stock #||R0144 (G1)|
|Chromosomal Location||41188172-41303260 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 41258049 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Histidine at position 413 (Y413H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039598 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043814]|
AA Change: Y413H
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: Y413H
|Meta Mutation Damage Score||0.8035|
|Coding Region Coverage||
|Validation Efficiency||100% (90/90)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit premature death, severe tremors, diluted coat color, neurodegeneration, impaired coordination, muscle weakness, small size and reduced spleen. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fig4||
(F):5'- CAGACCTTTCAGGGGAAACCTGAC -3'
(R):5'- GCTGACCCTCACTCTGTGAAGATG -3'
(F):5'- GGAAACCTGACACCTGCTG -3'
(R):5'- tgtgggtgctgggaattg -3'