|Institutional Source||Beutler Lab|
|Gene Name||TRIO and F-actin binding protein|
|Synonyms||EST478828, Mus EST 478828, Tara|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||RF058 (G1)|
|Chromosomal Location||78947724-79005869 bp(+) (GRCm38)|
|Type of Mutation||small insertion (10 aa in frame mutation)|
|DNA Base Change (assembly)||CTCCCTGTGCCCAAC to CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC at 78967044 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000155397 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000109689] [ENSMUST00000109690] [ENSMUST00000140228]|
|Coding Region Coverage||
FUNCTION: This gene encodes a protein that interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility, and cell growth. The encoded protein also associates with F-actin and stabilizes F-actin structures. Domains contained in this encoded protein are an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. Mutations in the human gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants have been described [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Triobp||
(F):5'- AACCCTAGGACTCCCTGTAC -3'
(R):5'- AGATGCTCCCATTTGCTGC -3'
(F):5'- TAGGACTCCCTGTACCCAGAG -3'
(R):5'- TCCCATTTGCTGCAGGAAG -3'