|Institutional Source||Beutler Lab|
|Gene Name||homeobox D10|
|Essential gene?||Possibly essential (E-score: 0.702)|
|Stock #||R0375 (G1)|
|Chromosomal Location||74691924-74695105 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 74692720 bp (GRCm38)|
|Amino Acid Change||Serine to Arginine at position 247 (S247R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062412 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061745]|
AA Change: S247R
PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: S247R
|Meta Mutation Damage Score||0.2557|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit an abnormal gait associated with defects in sacral vertebrae (including homeotic transformations), hindlimb bones, and muscle innervation. These defects are sometimes seen in heterozygotes as well. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxd10||
(F):5'- TAGACTGAGTCAGACCTACGCCAC -3'
(R):5'- GCTCAAGACTGATAAACCCGGCAAG -3'
(F):5'- GCAGCTCCACTGTCATGC -3'
(R):5'- GAGAAGCCCCGACCCTTTC -3'