Incidental Mutation 'IGL02282:Il4'
ID289870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il4
Ensembl Gene ENSMUSG00000000869
Gene Nameinterleukin 4
SynonymsIl-4
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02282
Quality Score
Status
Chromosome11
Chromosomal Location53602982-53618669 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 53618174 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 59 (T59M)
Ref Sequence ENSEMBL: ENSMUSP00000000889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000889] [ENSMUST00000140684] [ENSMUST00000150568]
Predicted Effect probably damaging
Transcript: ENSMUST00000000889
AA Change: T59M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000889
Gene: ENSMUSG00000000869
AA Change: T59M

DomainStartEndE-ValueType
IL4_13 1 140 6.04e-86 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127858
Predicted Effect probably benign
Transcript: ENSMUST00000140684
Predicted Effect probably benign
Transcript: ENSMUST00000150568
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik C T 11: 78,284,228 P1730S probably benign Het
Ahnak A G 19: 9,005,987 D1545G probably damaging Het
AI481877 A C 4: 59,111,114 Y53D unknown Het
Baiap3 A C 17: 25,249,377 D234E probably benign Het
Cand1 T A 10: 119,210,709 T959S probably benign Het
Ctdspl2 A G 2: 121,977,478 probably benign Het
Cyp2a4 A C 7: 26,309,047 M205L probably benign Het
Dlx5 G A 6: 6,881,762 A42V probably damaging Het
Dnah7a A G 1: 53,643,510 I267T possibly damaging Het
Dnajb6 A G 5: 29,752,418 D66G probably damaging Het
Fgf8 T C 19: 45,737,090 H201R possibly damaging Het
Gpc1 A G 1: 92,857,967 K460E probably damaging Het
Gzme A T 14: 56,118,369 L162Q probably damaging Het
Ik G A 18: 36,745,644 G17D probably damaging Het
Kcnh3 G T 15: 99,228,043 probably null Het
Mill1 G T 7: 18,263,204 probably null Het
Npbwr1 A T 1: 5,916,965 M110K possibly damaging Het
Olfr1490 T A 19: 13,655,258 D276E probably damaging Het
Olfr849 A G 9: 19,441,618 Y235C probably benign Het
Olfr881 A T 9: 37,993,022 I177F probably damaging Het
Opalin A T 19: 41,066,504 S84T probably benign Het
Pcdhb11 T C 18: 37,423,828 L737P probably damaging Het
Phip G A 9: 82,913,690 S626L probably benign Het
Ppl T C 16: 5,101,458 D435G probably damaging Het
Prss37 A G 6: 40,515,383 V178A possibly damaging Het
Ptpn7 A G 1: 135,134,834 I104V probably damaging Het
Ptprn A G 1: 75,253,156 Y700H probably damaging Het
Rab11fip5 T A 6: 85,337,552 T555S probably damaging Het
Rfwd3 A T 8: 111,293,982 probably benign Het
Robo1 G A 16: 72,742,138 R41H probably damaging Het
Rps3 A G 7: 99,479,272 probably null Het
Ruvbl2 G A 7: 45,425,165 T183I probably benign Het
Sema4c A T 1: 36,550,203 probably null Het
Taar8b T A 10: 24,091,555 K247I possibly damaging Het
Tacr3 A T 3: 134,861,073 I236F probably benign Het
Ttc21b A G 2: 66,191,737 I1168T probably damaging Het
Ttc9b A T 7: 27,655,911 D202V probably damaging Het
Vmn2r26 T G 6: 124,061,625 C720G probably damaging Het
Vmn2r37 A G 7: 9,206,762 S584P probably benign Het
Wnk2 T A 13: 49,068,125 D1208V probably damaging Het
Zfp988 T A 4: 147,331,668 C186* probably null Het
Zp3 A G 5: 135,984,351 N179S possibly damaging Het
Other mutations in Il4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02368:Il4 APN 11 53612636 missense probably damaging 1.00
R0076:Il4 UTSW 11 53613914 missense probably damaging 1.00
R0449:Il4 UTSW 11 53618605 start codon destroyed probably null 0.86
R1801:Il4 UTSW 11 53618538 missense possibly damaging 0.46
R4018:Il4 UTSW 11 53613979 start gained probably benign
R6429:Il4 UTSW 11 53613909 missense possibly damaging 0.86
Posted On2015-04-16