|Institutional Source||Beutler Lab|
|Gene Name||DEAH (Asp-Glu-Ala-His) box polypeptide 37|
|Is this an essential gene?||Possibly non essential (E-score: 0.398)|
|Stock #||R5789 (G1)|
|Chromosomal Location||125413858-125434121 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 125421039 bp|
|Amino Acid Change||Isoleucine to Serine at position 702 (I702S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000131734 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000169485]|
|Predicted Effect||possibly damaging
AA Change: I702S
PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: I702S
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.7878|
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dhx37||
(F):5'- TCATTAGGGACTGAAGGCCAC -3'
(R):5'- TACAGAGTATATAGTCAGGGTAGCTG -3'
(F):5'- ACCAGGACACCTTCTGATTGG -3'
(R):5'- ACTAACTGCCCTGGTGAGG -3'