|Institutional Source||Beutler Lab|
|Gene Name||homeobox C10|
|Is this an essential gene?||Probably essential (E-score: 0.822)|
|Stock #||R2139 (G1)|
|Chromosomal Location||102966796-102971893 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 102967477 bp|
|Amino Acid Change||Glutamine to Leucine at position 207 (Q207L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001699 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001699]|
|Predicted Effect||probably benign
AA Change: Q207L
PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: Q207L
|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 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. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit skeletal transformations in thoracic, lumbar and sacral vertebrae, alterations in the pelvis and in the bones and ligaments of the hindlimb, femoral defects, decreased lumbar motor neuron and rib number, impairedcoordination, muscle wasting, and obesity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxc10||
(F):5'- TGTACCCAGCTACTACCGAG -3'
(R):5'- TGAGTTCCTTAGGCCTCTGC -3'
(F):5'- GCTACTACCGAGCCAGCC -3'
(R):5'- AGTTCCTTAGGCCTCTGCTCAATTC -3'