|Institutional Source||Beutler Lab|
|Gene Name||homeobox D13|
|Is this an essential gene?||Possibly essential (E-score: 0.661)|
|Stock #||R7069 (G1)|
|Chromosomal Location||74668310-74671599 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 74669024 bp|
|Amino Acid Change||Tyrosine to Histidine at position 239 (Y239H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001872 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001872]|
|Predicted Effect||probably damaging
AA Change: Y239H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y239H
|Meta Mutation Damage Score||0.3950|
|Coding Region Coverage||
|Validation Efficiency||98% (86/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted and spontaneous mutations exhibit abnormalities of the axial skeleton, especially limbs, and of the male accessory organs, and agenesis of the preputial glands. Mutant males are sterile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxd13||
(F):5'- AAGTACATGGACGTGTCGGG -3'
(R):5'- GCGCTTTTAATTGGGAAAGTCAG -3'
(F):5'- AGCGTACCGACCAACGAGG -3'
(R):5'- GCTTTTAATTGGGAAAGTCAGAGATC -3'