|Institutional Source||Beutler Lab|
|Gene Name||homeobox C11|
|Is this an essential gene?||Probably essential (E-score: 0.852)|
|Stock #||R4342 (G1)|
|Chromosomal Location||102954427-102957708 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 102954671 bp (GRCm38)|
|Amino Acid Change||Serine to Phenylalanine at position 49 (S49F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001701 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001701]|
AA Change: S49F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S49F
|Meta Mutation Damage Score||0.2572|
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
|MGI Phenotype||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 product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxc11||
(F):5'- CGCTAGATCGGGTCCAAAAC -3'
(R):5'- TTTTCATGAGGATCTCAGTGACTG -3'
(F):5'- GTCCAAAACCTCCAGCCGG -3'
(R):5'- TCTCAGTGACTGTGGAAGGAG -3'