|Institutional Source||Beutler Lab|
|Gene Name||Dmx-like 1|
|Is this an essential gene?||Probably essential (E-score: 0.953)|
|Stock #||R5706 (G1)|
|Chromosomal Location||49832670-49965473 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 49957395 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000137871 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041772] [ENSMUST00000180611]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dmxl1||
(F):5'- TGCTTCATAAGATGTTGGTGGAAC -3'
(R):5'- GCTGCTCTGAGTTCCCTATG -3'
(F):5'- TTTTTACAGAAAGGGGGAGAATCAAC -3'
(R):5'- CCTACCTAGTAATTATGGCATGGTG -3'