|Institutional Source||Beutler Lab|
|Gene Name||argonaute RISC catalytic subunit 3|
|Synonyms||eIF2C3, argonaute 3, C130014L07Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.417)|
|Stock #||R4022 (G1)|
|Chromosomal Location||126331704-126429556 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 126368593 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 388 (N388I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066633 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000069097]|
|Predicted Effect||probably benign
AA Change: N388I
PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: N388I
|Meta Mutation Damage Score||0.13|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
|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'