|Institutional Source||Beutler Lab|
|Gene Name||thymocyte selection-associated high mobility group box|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5421 (G1)|
|Chromosomal Location||6686353-6991557 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 6842409 bp (GRCm38)|
|Amino Acid Change||Methionine to Isoleucine at position 40 (M40I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037966 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039987]|
|PDB Structure||Solution structure of the HMG_box domain of thymus high mobility group box protein TOX from mouse [SOLUTION NMR]|
AA Change: M40I
PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: M40I
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele have a severe block in thymic positive selection leading to loss of CD4 T lineage cells, and display decreased NK cell numbers, severely reduced numbers of lymphoid tissue inducer cells, absence of all peripheral lymph nodes, and loss of Peyer's patches. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tox||
(F):5'- CATCTCATTAACTGGAAACAAGGC -3'
(R):5'- GGAAAGATGTGGCTCACTCAC -3'
(F):5'- TAACTGGAAACAAGGCTTAAATGC -3'
(R):5'- TGTGGCTCACTCACTACAACAGATTC -3'