|Institutional Source||Beutler Lab|
|Gene Name||interleukin 4|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R9389 (G1)|
|Chromosomal Location||53602982-53618669 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 53614010 bp (GRCm38)|
|Amino Acid Change||Arginine to Histidine at position 76 (R76H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000889 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000889] [ENSMUST00000140684] [ENSMUST00000150568]|
AA Change: R76H
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: R76H
|Meta Mutation Damage Score||0.6329|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit defects in immune system morphology and physiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Il4||
(F):5'- ATCGACTGGTCTTCAATGCTG -3'
(R):5'- GTGGCCTTACTGACCTCAAG -3'
(F):5'- AATGCTGCTCTCATTGTGCCAG -3'
(R):5'- GGGGCAGAAAAAACCTCT -3'