|Institutional Source||Beutler Lab|
|Gene Name||tubby-like protein 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7464 (G1)|
|Chromosomal Location||128321161-128355851 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 128326829 bp|
|Amino Acid Change||Valine to Aspartic acid at position 269 (V269D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001562 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001562]|
|Predicted Effect||probably benign
AA Change: V269D
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V269D
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous mutant mice exhibit failed neural tube closure followed by neuroepithelial apoptosis and ultimately embryonic death around E14.5. Heterozygotes are largely phenotypically normal, however some exhibit neuroepithelial apoptosis and die as embryos. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tulp3||
(F):5'- GTAGAAGCTGACCAGACTGC -3'
(R):5'- CATGTGGAGAAGTGTTTCCCTG -3'
(F):5'- TGACCAGACTGCAGGGTG -3'
(R):5'- AGACAGGATCTCTTTACGTAGGCC -3'