|Institutional Source||Beutler Lab|
|Gene Name||NK2 homeobox 6|
|Synonyms||Nkx-2.6, tinman, Tix, Nkx2.6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1670 (G1)|
|Chromosomal Location||69171802-69175518 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 69174677 bp|
|Amino Acid Change||Methionine to Lysine at position 98 (M98K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049898 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062437]|
|Predicted Effect||probably benign
AA Change: M98K
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: M98K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.028|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a targeted null allele are viable and fertile and develop normally, with no anomalies detected in the caudal pharyngeal pouch derivatives, heart or gut. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nkx2-6||
(F):5'- AACGAAATGTAGACCGGGGCTCAC -3'
(R):5'- TCAGGTATCGCTGCTGCTTGAAG -3'
(F):5'- CAGCGTACCAGACTTTATTCAGG -3'
(R):5'- TTGAAGCGCCGCTCCAG -3'