|Institutional Source||Beutler Lab|
|Gene Name||trinucleotide repeat containing 6a|
|Synonyms||CAGH26, 2010321I05Rik, Tnrc6, 3110054G10Rik, D130023A07Rik|
|Is this an essential gene?||Probably essential (E-score: 0.834)|
|Stock #||R4967 (G1)|
|Chromosomal Location||123123885-123195296 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 123189872 bp|
|Amino Acid Change||Tryptophan to Leucine at position 1638 (W1638L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000091595 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000094053] [ENSMUST00000205514]|
|Predicted Effect||probably damaging
AA Change: W1638L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: W1638L
|Predicted Effect||probably benign
AA Change: W1139L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3764|
|Coding Region Coverage||
|Validation Efficiency||100% (102/102)|
FUNCTION: This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein is highly similar to a human protein that functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The human protein associates with messenger RNAs and argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies, and inhibiting its expression delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit partial embryonic lethality during organogenesis associated with impaired hematopoiesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tnrc6a||
(F):5'- AGGAAGATTGCCAGCTCTG -3'
(R):5'- GGCATCAGAATTTCCCCATCC -3'
(F):5'- TCTGTAGGCCTTTACCTAGATTTAG -3'
(R):5'- CTCCACCTACACGAAGGGGAG -3'