|Institutional Source||Beutler Lab|
|Gene Name||argonaute RISC catalytic subunit 3|
|Synonyms||eIF2C3, argonaute 3, C130014L07Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5013 (G1)|
|Chromosomal Location||126331704-126429556 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 126368598 bp|
|Amino Acid Change||Serine to Arginine at position 386 (S386R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066633 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000069097]|
|Predicted Effect||probably benign
AA Change: S386R
PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: S386R
|Meta Mutation Damage Score||0.044|
|Coding Region Coverage||
|Validation Efficiency||100% (86/86)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ago3||
(F):5'- AAACTTAGAGTGCCATTCTCTCCC -3'
(R):5'- TCCCTGACTCAGTCTACAGG -3'
(F):5'- GCTGGCAATTGAACTCAGGACTTC -3'
(R):5'- CAGTCTACAGGAAAATATTCTCTGCC -3'