|Institutional Source||Beutler Lab|
|Gene Name||distal-less homeobox 4|
|Synonyms||Dlx7, Dlx-4, DII D|
|Is this an essential gene?||Probably non essential (E-score: 0.121)|
|Stock #||R8068 (G1)|
|Chromosomal Location||95140447-95146263 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 95145330 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 51 (Y51C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021241 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021241]|
|Predicted Effect||possibly damaging
AA Change: Y51C
PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: Y51C
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dlx4||
(F):5'- TGAATCCCTCTAGTTGCGCG -3'
(R):5'- AGACTTTGAAAGGAGCTGGC -3'
(F):5'- CAGAAGAACGCGAAATTTATGC -3'
(R):5'- ATGACCTAGGCCCTGTGG -3'