|Institutional Source||Beutler Lab|
|Gene Name||guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6656 (G1)|
|Chromosomal Location||3993792-3997436 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 3994246 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 8 (D8G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031673 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031673]|
|Predicted Effect||possibly damaging
AA Change: D8G
PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: D8G
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||97% (35/36)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice display markedly reduced flash sensitivity of individual retinal rods and gradual retinal photoreceptor degeneration with loss of most rods by 6 months of age. Homozygous knock-in mice expressing geranylgeranylated rod transducin exhibit impaired properties in light adaptation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gngt1||
(F):5'- TCCCTGGTAAGTGCAAAGC -3'
(R):5'- CCAAAATGTCTCCATGCCTTG -3'
(F):5'- CCTGGTAAGTGCAAAGCAGAGG -3'
(R):5'- CACTTGGATCGGGAAAACTAGCTTTC -3'