|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 #||R5883 (G1)|
|Chromosomal Location||6686353-6991557 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 6697444 bp|
|Amino Acid Change||Valine to Glycine at position 453 (V453G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037966 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039987]|
|Predicted Effect||probably benign
AA Change: V453G
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V453G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.08|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
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'- CTGATTTTGACAACTTACCTCGTG -3'
(R):5'- AATGACTCCTCAGCTCACCG -3'
(F):5'- TGGGCATTGCTCACTATC -3'
(R):5'- TCACCGCCATGCATCCGAG -3'