|Institutional Source||Beutler Lab|
|Gene Name||signal transducer and activator of transcription 6|
|Is this an essential gene?||Possibly essential (E-score: 0.626)|
|Stock #||R1333 (G1)|
|Chromosomal Location||127642986-127660957 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to C at 127651225 bp|
|Amino Acid Change||Arginine to Serine at position 200 (R200S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000089708 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092074] [ENSMUST00000120279]|
|Predicted Effect||possibly damaging
AA Change: R200S
PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: R200S
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.142|
|Coding Region Coverage||
|Validation Efficiency||98% (41/42)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired IL4 responses, including anti-IgM stimulated B cell proliferation, class switching to IgE, contact sensitivity, and Th2 cytokine production, and show increased resistance to certain infections. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Stat6||
(F):5'- CTGGTAAACCCGAAGGATGGAGTTG -3'
(R):5'- CAGTGAAGGATCTGTGTGAGCACC -3'
(F):5'- GACTGAGCTGTGTGAGGG -3'
(R):5'- AATCTGTATGCTCCCTGTCTG -3'