|Institutional Source||Beutler Lab|
|Gene Name||homeobox D1|
|Is this an essential gene?||Possibly non essential (E-score: 0.407)|
|Stock #||R6640 (G1)|
|Chromosomal Location||74762980-74765142 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 74763262 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 54 (V54E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043078 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047793]|
|Predicted Effect||probably damaging
AA Change: V54E
PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: V54E
|Coding Region Coverage||
|Validation Efficiency||97% (31/32)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele display abnormal cervical vertebrae. Mice homozygous for a knock-out allele exhibit abnormal nociceptor innervation of the skin, aberrant nociceptor axonal projections in the spinal cord, and deficits in pain sensitivity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxd1||
(F):5'- ACTATTTACCTCGGGCTCGC -3'
(R):5'- GCCGCTGAGCAGGAATGATC -3'
(F):5'- GCCTAGGTCGTGCGGAG -3'
(R):5'- CCGAGGTGGCATAGTGGAC -3'