|Institutional Source||Beutler Lab|
|Gene Name||homeobox D9|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6717 (G1)|
|Chromosomal Location||74697727-74700208 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 74698389 bp|
|Amino Acid Change||Proline to Serine at position 112 (P112S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058490 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000059272]|
|Predicted Effect||probably benign
AA Change: P112S
PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: P112S
|Coding Region Coverage||
|Validation Efficiency||98% (47/48)|
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 at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit anterior transformation of lumbar, sacral, and caudal vertebrae with abnormal humerus morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxd9||
(F):5'- ACTACGTGGACTCGCTCATAGG -3'
(R):5'- CGAGTTGCACGGGAATTCTG -3'
(F):5'- GACTCGCTCATAGGCCATG -3'
(R):5'- CGGAGCACTCAGTCCTTTTGG -3'