|Institutional Source||Beutler Lab|
|Gene Name||homeobox D11|
|Synonyms||Hox-5.4, Hox-4.6, E230017H14Rik, Hox-5.5|
|Is this an essential gene?||Possibly essential (E-score: 0.664)|
|Stock #||R7322 (G1)|
|Chromosomal Location||74679557-74687016 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 74684011 bp|
|Amino Acid Change||Leucine to Proline at position 295 (L295P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000122582 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000142312]|
|Predicted Effect||probably damaging
AA Change: L295P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L295P
|Coding Region Coverage||
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. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit homeotic transformations of sacral vertebrae, malformations of distal limbs, and reduced fertility in males. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxd11||
(F):5'- GTGCCCGCCCATATATCATC -3'
(R):5'- AAGAGGCGTCATTGAACCC -3'
(F):5'- TTTCAACGGCGGCAAGG -3'
(R):5'- ACATTGGGCCTGCTGAGAG -3'