|Institutional Source||Beutler Lab|
|Gene Name||homeobox C9|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5165 (G1)|
|Chromosomal Location||102976439-102985099 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 102984000 bp|
|Amino Acid Change||Methionine to Lysine at position 215 (M215K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001706 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001706] [ENSMUST00000173306]|
|Predicted Effect||probably damaging
AA Change: M215K
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: M215K
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3463|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
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, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene grow more slowly than normal and develop hunched backs. Forward transformations seen in vertebrae from L1 and forward to around T10. Abnormalities in the sternum and ribs attachments to the sternum are also seen. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxc9||
(F):5'- ATGACAGAGGTCCTGAGCTG -3'
(R):5'- CCTCCTCCTCGATGGATAGAAC -3'
(F):5'- TCCTGAGCTGGAAGGGAAC -3'
(R):5'- TCCTCCTCGATGGATAGAACTAACTC -3'