|Institutional Source||Beutler Lab|
|Gene Name||zinc finger homeobox 3|
|Synonyms||A230102L03Rik, Atbf1, WBP9|
|Is this an essential gene?||Probably essential (E-score: 0.930)|
|Stock #||R8217 (G1)|
|Chromosomal Location||107942644-108961630 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 108950717 bp|
|Amino Acid Change||Threonine to Alanine at position 2800 (T2800A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044612 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043896]|
|Predicted Effect||probably benign
AA Change: T2800A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: T2800A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit normal initial pituitary development but reduced GH and TSH-beta staining within the pituitary by E17.5. Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice heterozygous for the same allele exhibit partial postnatal lethality, decreased body size and prolonged conception time. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zfhx3||
(F):5'- ATATCCGGTCTCGACACTGG -3'
(R):5'- AGTCGCTATTCCTGTTGCGC -3'
(F):5'- TCTCGACACTGGCACGAAG -3'
(R):5'- GCTATTCCTGTTGCGCTGTCG -3'