|Institutional Source||Beutler Lab|
|Gene Name||homeobox D1|
|Is this an essential gene?||Possibly non essential (E-score: 0.312)|
|Stock #||R2275 (G1)|
|Chromosomal Location||74762980-74765142 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 74764157 bp|
|Amino Acid Change||Lysine to Arginine at position 252 (K252R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043078 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047793]|
|Predicted Effect||probably damaging
AA Change: K252R
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: K252R
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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'- AGCGCTTCTTCTGGTTCAGC -3'
(R):5'- CTGACCGGGGAAGCTTAATC -3'
(F):5'- AGCTGTGTCCATCACTCAGGAG -3'
(R):5'- AGCTTAATCGAGGCCACAG -3'