|Institutional Source||Beutler Lab|
|Gene Name||DEAH (Asp-Glu-Ala-His) box polypeptide 29|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4422 (G1)|
|Chromosomal Location||112927454-112969432 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 112947247 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 612 (L612P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035244 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038574]|
AA Change: L612P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L612P
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||96% (67/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of cancer cells. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dhx29||
(F):5'- GAAGACCTGGCACCTGTTAG -3'
(R):5'- AGTTCCCGAGAGCAAAGCAG -3'
(F):5'- ACCTGTTAGGAGCCTCTTCAGG -3'
(R):5'- CGAGAGCAAAGCAGAGCCC -3'