|Institutional Source||Beutler Lab|
|Gene Name||interleukin 1 alpha|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5572 (G1)|
|Chromosomal Location||129299610-129309972 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 129307918 bp|
|Amino Acid Change||Tyrosine to Histidine at position 21 (Y21H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028882 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028882]|
|Predicted Effect||possibly damaging
AA Change: Y21H
PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: Y21H
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
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 interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal tumor vascularization, decreased metastatic potential, and decreased interleukin-1 beta secretion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Il1a||
(F):5'- GCCAATGAACATGAAGAATGCC -3'
(R):5'- TTGACCGTTTGAACTCAGTGG -3'
(F):5'- ACTAGTATGAAGAACCAAGTGATCTC -3'
(R):5'- CAGTGGTGCCTATGCCTAAATCAG -3'