|Institutional Source||Beutler Lab|
|Gene Name||DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11|
|Synonyms||CHL1, 4732462I11Rik, CHLR1, essa15a, KRG2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1550 (G1)|
|Chromosomal Location||66123520-66152174 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 66138220 bp (GRCm38)|
|Amino Acid Change||Threonine to Isoleucine at position 405 (T405I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000153436 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000163605] [ENSMUST00000224497] [ENSMUST00000224903]|
AA Change: T379I
PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
AA Change: T379I
AA Change: T405I
PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx11||
(F):5'- TACTGAACTGCGGCATTCTGGC -3'
(R):5'- TAGTGAGCAGCACCCTGGATGAAG -3'
(F):5'- CCATCCGCAAGGTCTGAGTAAG -3'
(R):5'- CACCCTGGATGAAGCAGAGC -3'