|Institutional Source||Beutler Lab|
|Gene Name||argonaute RISC catalytic subunit 1|
|Synonyms||Eif2c1, argonaute 1|
|Essential gene?||Probably essential (E-score: 0.811)|
|Stock #||R1624 (G1)|
|Chromosomal Location||126435012-126468583 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 126463741 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Threonine at position 47 (I47T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095498 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000097888] [ENSMUST00000176315]|
AA Change: I47T
PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: I47T
|Meta Mutation Damage Score||0.3590|
|Coding Region Coverage||
|Validation Efficiency||99% (90/91)|
FUNCTION: This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in keratinocytes exhibit no abnormal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ago1||
(F):5'- AGACTATGCTCCGTGCTACACTCC -3'
(R):5'- TGCCCGGTAGAGACAGTTATCTCAG -3'
(F):5'- GCTACACTCCGTCTAGCCG -3'
(R):5'- CTCGTTACACATTTACTCGATGAGG -3'