|Institutional Source||Beutler Lab|
|Gene Name||nuclear transcription factor, X-box binding 1|
|Synonyms||1300017N15Rik, Tex42, 3000003M19Rik, TEG-42|
|Is this an essential gene?||Possibly essential (E-score: 0.564)|
|Stock #||R8799 (G1)|
|Chromosomal Location||40970906-41025993 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 41023727 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Aspartic acid at position 1045 (E1045D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095747 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098143]|
AA Change: E1045D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E1045D
|Coding Region Coverage||
|Validation Efficiency||97% (57/59)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nfx1||
(F):5'- AGCTTGTTCTGATCCCAGGG -3'
(R):5'- ACTTGGGTACTAGGGTGCAC -3'
(F):5'- AGGGCATGGAAATGATCAGTCTTCTC -3'
(R):5'- GGTAATGGTAAAAAGGCTATTCCAC -3'