|Institutional Source||Beutler Lab|
|Gene Name||NK2 homeobox 9|
|Synonyms||Nkx2.9, Nkx-2.9, tinman|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7804 (G1)|
|Chromosomal Location||56611389-56613284 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 56612132 bp|
|Amino Acid Change||Arginine to Histidine at position 99 (R99H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000072425 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000072631]|
|Predicted Effect||probably damaging
AA Change: R99H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R99H
|Coding Region Coverage||
|Validation Efficiency||95% (55/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a homeobox-containing developmental regulator associated with liver development. The encoded protein binds to the alpha-fetoprotein (AFP) gene promoter and increases the expression of AFP. This gene is overexpressed in some lung cancers and is linked to poor patient survival, possibly due to its resistance to cisplatin. This gene is aberrantly methylated in pancreatic cancer, deleted in squamous cell lung carcinomas, and acts as a tumor suppressor in esophageal cancer. Mutations in this gene may also be a cause of neural tube defects. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mutant mice lacking both functional copies of the gene are viable and fertile but display abnormal development of the spinal accessory nerve. Another mutant exhibits progressive bronchial dysplasia leading to lung cancer in aged mutants. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nkx2-9||
(F):5'- CAGATGATGCTGCCATATCCG -3'
(R):5'- AGAATTGGGACTCCAGGTGG -3'
(F):5'- GAAGGCTCTGTGATCCCAG -3'
(R):5'- AGACACCCGTAGAGGCTG -3'