|Institutional Source||Beutler Lab|
|Gene Name||homeobox C13|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3978 (G1)|
|Chromosomal Location||102921103-102928814 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 102921240 bp|
|Amino Acid Change||Valine to Alanine at position 18 (V18A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001700 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001700]|
|Predicted Effect||possibly damaging
AA Change: V18A
PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: V18A
|Meta Mutation Damage Score||0.0713|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
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 may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit alopecia due to brittle hair, poor growth, abnormalities of caudal vertebrae, nails, and tongue filiform papillae, and lethality in the second week. Rare survivors recover, but lack hair. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxc13||
(F):5'- CTTAATGAAGTGTGTCCGCATGC -3'
(R):5'- AGGTTCACGTTGTGCGACAG -3'
(F):5'- CCGCATGCGTAGTGGGAATG -3'
(R):5'- TAGTAGCTGCCCCCAAATGG -3'