|Institutional Source||Beutler Lab|
|Gene Name||NK3 homeobox 1|
|Synonyms||Bax, NKX3A, NKX3.1, bagpipe, Nkx-3.1|
|Is this an essential gene?||Possibly non essential (E-score: 0.259)|
|Stock #||R5081 (G1)|
|Chromosomal Location||69190638-69194662 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 69191947 bp|
|Amino Acid Change||Isoleucine to Threonine at position 138 (I138T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022646 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022646]|
|Predicted Effect||possibly damaging
AA Change: I138T
PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: I138T
|Meta Mutation Damage Score||0.3497|
|Coding Region Coverage||
|Validation Efficiency||93% (65/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox-containing transcription factor. This transcription factor functions as a negative regulator of epithelial cell growth in prostate tissue. Aberrant expression of this gene is associated with prostate tumor progression. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced minor salivary glands with altered duct morphology, altered prostate ductal morphogenesis, and prostate epithelial hyperplasia and neoplasia. Heterozygotes develop neoplastic foci. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nkx3-1||
(F):5'- GTATCCAGATGACAGTGGGC -3'
(R):5'- GAGTTCTTCTCCAAGACTCCCAG -3'
(F):5'- GGGCTTTTTGTTCACTAGCAGAAAAC -3'
(R):5'- AGACTCCCAGGTCTTCCGAC -3'