|Institutional Source||Beutler Lab|
|Gene Name||DEAH (Asp-Glu-Ala-His) box polypeptide 8|
|Synonyms||RNA helicase, Ddx8, mDEAH6|
|Is this an essential gene?||Probably essential (E-score: 0.965)|
|Stock #||R7011 (G1)|
|Chromosomal Location||101732919-101767358 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 101741520 bp|
|Amino Acid Change||Leucine to Proline at position 435 (L435P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037251 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039152] [ENSMUST00000129741]|
|Predicted Effect||probably damaging
AA Change: L435P
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: L435P
AA Change: L382P
|Coding Region Coverage||
|Validation Efficiency||96% (66/69)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dhx8||
(F):5'- GGGATTGGACATGTGCCTTAC -3'
(R):5'- TGATCTGTCTAAACACGCGC -3'
(F):5'- GATTGGACATGTGCCTTACTCTGAC -3'
(R):5'- ACGCGCTTCTATCCAGAGATGAG -3'