|Institutional Source||Beutler Lab|
|Gene Name||guanine nucleotide binding protein, alpha transducing 1|
|Synonyms||Gnat-1, Ird1, irdr, Ird2, transducin, Tralpha|
|Is this an essential gene?||Probably non essential (E-score: 0.230)|
|Stock #||R7218 (G1)|
|Chromosomal Location||107674474-107679712 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 107675985 bp|
|Amino Acid Change||Methionine to Arginine at position 319 (M319R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000010205 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000010205] [ENSMUST00000192271]|
|Predicted Effect||possibly damaging
AA Change: M319R
PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: M319R
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (69/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for disruption of this gene display retinal degeneration with age and abnormal electrophysiology of the rods. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gnat1||
(F):5'- CAGTCTGAAGCAGTGAACCTAATG -3'
(R):5'- CTACGATGGTGAGATCCCTAGG -3'
(F):5'- CTAATGAGGAACTAGGGGCAG -3'
(R):5'- TGAGATCCCTAGGCCCGG -3'