|Institutional Source||Beutler Lab|
|Gene Name||T-box 21|
|Synonyms||Tbet, Tblym, T-bet, TBT1|
|Is this an essential gene?||Possibly non essential (E-score: 0.307)|
|Stock #||R5049 (G1)|
|Chromosomal Location||97098071-97115331 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 97114710 bp|
|Amino Acid Change||Histidine to Arginine at position 143 (H143R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001484 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001484]|
|Predicted Effect||probably benign
AA Change: H143R
PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: H143R
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0879|
|Coding Region Coverage||
|Validation Efficiency||97% (89/92)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display defects in the production of NK and NK-T cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tbx21||
(F):5'- CAACCTGCAGCTTCAAATTTTG -3'
(R):5'- CGGACCAACAGCATCGTTTC -3'
(F):5'- ACCTGCAGCTTCAAATTTTGATTTC -3'
(R):5'- GGACCAACAGCATCGTTTCTTCTATC -3'