|Institutional Source||Beutler Lab|
|Gene Name||DEAH (Asp-Glu-Ala-His) box polypeptide 36|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7531 (G1)|
|Chromosomal Location||62468013-62507004 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 62484968 bp|
|Amino Acid Change||Isoleucine to Valine at position 546 (I546V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029336 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029336]|
|Predicted Effect||probably damaging
AA Change: I546V
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: I546V
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
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 family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality around E7.0. Mice homozygous for a conditional allele activated in the hematopoiesis systemexhibit impaired erythropoiesis associated with cell cycle defect. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dhx36||
(F):5'- CAGTTCCCATGATTCTTTAGAGAAG -3'
(R):5'- TGATAGACCAGTGCACAAGATAC -3'
(F):5'- CACTAAACTCAGTAGAACAGCTTTAG -3'
(R):5'- ATGCTAAAATGATCACTATCTC -3'