|Institutional Source||Beutler Lab|
|Gene Name||retina and anterior neural fold homeobox|
|Synonyms||ey1, Rx, E130303K03Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.684)|
|Stock #||R6578 (G1)|
|Chromosomal Location||65934639-65939089 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 65938667 bp|
|Amino Acid Change||Threonine to Alanine at position 50 (T50A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025396 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025396]|
|Predicted Effect||probably benign
AA Change: T50A
PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: T50A
|Meta Mutation Damage Score||0.0679|
|Coding Region Coverage||
|Validation Efficiency||97% (37/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mutants die neonatally with severe brain defects including absence of forebrain/midbrain structures and fail to form eye structures. Homozygous hypomorph mutants are viable, but lack eyes and optic tracts and have hypothalamic defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rax||
(F):5'- TAACCTCAAGTCGGGCAAAC -3'
(R):5'- CGAGCTCCAGTTTGCAAAG -3'
(F):5'- AGAAGCTCCGGTCTTGCAGAG -3'
(R):5'- GCAAAGTGCACTCCCTCCTC -3'