|Institutional Source||Beutler Lab|
|Gene Name||RNA binding protein, fox-1 homolog (C. elegans) 1|
|Synonyms||FOX1, A2bp, A2bp1, HRNBP1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8161 (G1)|
|Chromosomal Location||5885355-7411526 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 7277028 bp|
|Amino Acid Change||Threonine to Alanine at position 111 (T111A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049970 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056416] [ENSMUST00000115841]|
AA Change: T111A
|Predicted Effect||probably benign
AA Change: T91A
PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
AA Change: T91A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rbfox1||
(F):5'- TCCAAGATTCATATGTGGGTCCTC -3'
(R):5'- GTCTCAGAACTCCCACAAGG -3'
(F):5'- TCCTCAGTGGATGCTCAAAAC -3'
(R):5'- TCCCACAAGGAGCAAACTGAGG -3'