|Institutional Source||Beutler Lab|
|Gene Name||interleukin 12a|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8188 (G1)|
|Chromosomal Location||68690644-68698547 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 68691539 bp (GRCm38)|
|Amino Acid Change||Cysteine to Serine at position 18 (C18S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029345 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029345] [ENSMUST00000107816]|
AA Change: C18S
AA Change: C18S
|Meta Mutation Damage Score||0.0882|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null homozygotes have decreased NK cell responses, altered effector T cell differentiation, and increased susceptibility to parasitic infections. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Il12a||
(F):5'- TAATTCGAAAGCGCCACCAG -3'
(R):5'- CTATAATGAGACCATGCTCGGTG -3'
(F):5'- GAAAGCGCCACCAGCCTTG -3'
(R):5'- GTGCAGCGCAATCTAGCAC -3'