|Institutional Source||Beutler Lab|
|Gene Name||dicer 1, ribonuclease type III|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7234 (G1)|
|Chromosomal Location||104687742-104751952 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 104708849 bp|
|Amino Acid Change||Leucine to Serine at position 718 (L718S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043676 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041987]|
|Predicted Effect||probably damaging
AA Change: L718S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L718S
|Meta Mutation Damage Score||0.0905|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
|MGI Phenotype||Strain: 3589209; 3809262; 2681012; 3576927
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mutation of this locus results in arrest of early embryonic development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dicer1||
(F):5'- ACCTGGGGAAACATCTGAGC -3'
(R):5'- GAGCCCCTAAAGTTTCAGCTG -3'
(F):5'- CATCTGAGCAGAAGATGTAGCATGTG -3'
(R):5'- GAGCCCTGGAACTGTACTTAC -3'