|Institutional Source||Beutler Lab|
|Gene Name||interleukin 9|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3718 (G1)|
|Chromosomal Location||56479277-56482246 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 56479451 bp|
|Amino Acid Change||Threonine to Isoleucine at position 116 (T116I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022019 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022019]|
|Predicted Effect||probably damaging
AA Change: T116I
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: T116I
|Meta Mutation Damage Score||0.5471|
|Coding Region Coverage||
|Validation Efficiency||97% (36/37)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and show no overt phenotype, however when challenged, aspects of the inflammatory response are shown to be impaired. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Il9||
(F):5'- AGGGCCTTGGTCTAGAATAGC -3'
(R):5'- GGTCTTACCAAATGCTAGCTAGC -3'
(F):5'- CACTGTAACAGTTAAGGAGG -3'
(R):5'- GCTAGCTAGCCCAGGATCAAC -3'