|Institutional Source||Beutler Lab|
|Gene Name||additional sex combs like 1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7464 (G1)|
|Chromosomal Location||153345829-153404007 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 153397785 bp (GRCm38)|
|Amino Acid Change||Alanine to Serine at position 499 (A499S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000105413 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000109790] [ENSMUST00000227428]|
AA Change: A499S
PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
AA Change: A499S
AA Change: A498S
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Disruption of this gene causes alterations in lymphocyte development in adult mice. Mice homozygous for a different knock-out allele exhibit complete lethality. Mice heterozygous for this allele exhibit eye opacity and abnormal vertebrae morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Asxl1||
(F):5'- TCCGAACCAGATCCAGAAGG -3'
(R):5'- TCGGTGTGAACACTTTCAATTG -3'
(F):5'- TTGCTAAAGATGCAAGTGCTG -3'
(R):5'- GTGTTACGAAAGGACTGACGATCTTC -3'