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|Institutional Source||Beutler Lab|
|Gene Name||homeobox C12|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0724 (G1)|
|Chromosomal Location||102936757-102938609 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 102937055 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 68 (Y68C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051003 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055562]|
|Predicted Effect||probably damaging
AA Change: Y68C
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: Y68C
|Meta Mutation Damage Score||0.2891|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
|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. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxc12||
(F):5'- GGCGAGCATAATCTCCTGAATCCTG -3'
(R):5'- GTGTAGTCGTACTTGAAGCCGAGC -3'
(F):5'- ATAATCTCCTGAATCCTGGGTTTGTG -3'
(R):5'- TTGAAGCCGAGCGCAGG -3'