|Institutional Source||Beutler Lab|
|Gene Name||runt related transcription factor 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7193 (G1)|
|Chromosomal Location||135120652-135177990 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 135121145 bp|
|Amino Acid Change||Threonine to Serine at position 14 (T14S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050353 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056977]|
|Predicted Effect||probably benign
AA Change: T14S
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: T14S
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Nullizygous mutations can lead to variable phenotypes, including postnatal lethality, ataxia, skeletal and behavioral defects, altered differentiation and function of T cells and dendritic cells, gastric hyperplasia, intestinal and lung inflammation, hair shape changes, and absent Langerhans cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Runx3||
(F):5'- GGGACTGGGAAGCCAAATTC -3'
(R):5'- AGCTTGACCCAGCTGAGAATC -3'
(F):5'- CAAACCGAAACTTTCTTTCCTTGGAG -3'
(R):5'- TTGACCCAGCTGAGAATCAAAGTC -3'