|Institutional Source||Beutler Lab|
|Gene Name||NK2 homeobox 3|
|Synonyms||tinman, Nkx2.3, Nkx-2.3|
|Is this an essential gene?||Possibly essential (E-score: 0.647)|
|Stock #||R1647 (G1)|
|Chromosomal Location||43612325-43615892 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 43614456 bp|
|Amino Acid Change||Glutamine to Leucine at position 167 (Q167L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050933 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057178]|
|Predicted Effect||probably damaging
AA Change: Q167L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Q167L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7186|
|Coding Region Coverage||
|Validation Efficiency||97% (70/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes exhibit postnatal lethality due to acute intestinal malabsorption. Survivors recover well but exhibit splenic and Peyer's patch hypoplasia, intestinal villus malformation, gut truncation and distension, abnormal molar and sublingual gland development, and deranged lymphocyte homing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nkx2-3||
(F):5'- GCGGAATTGGGCTCCAGAAACTATG -3'
(R):5'- CCCAGGTTGCTCACGTTCACAAAG -3'
(F):5'- CTAGAAAGGCTAATGTCTTGCTTCTC -3'
(R):5'- agctgccgctgtaagcc -3'