|Institutional Source||Beutler Lab|
|Gene Name||distal-less homeobox 5|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7463 (G1)|
|Chromosomal Location||6877805-6882085 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 6878316 bp (GRCm38)|
|Amino Acid Change||Histidine to Arginine at position 238 (H238R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052559 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052609] [ENSMUST00000142635]|
AA Change: H238R
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: H238R
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants display multiple defects in craniofacial structures, including ears, nose, mandible and calvaria, and die shortly after birth, with some exhibiting exencephaly. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dlx5||
(F):5'- ACTGTAGTCCCAAAACTGAGC -3'
(R):5'- AACCTCTGAGTGTCCCGGTAAC -3'
(F):5'- CTGTAGTCCCAAAACTGAGCAAGAG -3'
(R):5'- GGTAACGTGTGCCTTTGTTCCC -3'