Incidental Mutation 'IGL02368:Il4'
ID290818
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 #IGL02368
Quality Score
Status
Chromosome11
Chromosomal Location53602982-53618669 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 53612636 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 22 (N22K)
Ref Sequence ENSEMBL: ENSMUSP00000134414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000889] [ENSMUST00000140684] [ENSMUST00000150568]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000889
AA Change: N117K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000889
Gene: ENSMUSG00000000869
AA Change: N117K

DomainStartEndE-ValueType
IL4_13 1 140 6.04e-86 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127858
Predicted Effect possibly damaging
Transcript: ENSMUST00000140684
AA Change: N22K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000150568
AA Change: N22K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik A G 18: 68,949,989 probably benign Het
Abca17 C A 17: 24,287,793 V1196L probably benign Het
Aldh4a1 G A 4: 139,648,200 W540* probably null Het
Antxr2 G A 5: 97,949,198 P352L probably damaging Het
Atic C T 1: 71,564,565 probably benign Het
Cfhr1 A G 1: 139,547,813 probably benign Het
Clspn T C 4: 126,566,107 S207P probably benign Het
Depdc1b A C 13: 108,363,579 T209P probably benign Het
Exosc3 A G 4: 45,319,671 I117T probably damaging Het
Eya2 T A 2: 165,763,718 D347E probably damaging Het
Gm10748 G T 3: 5,215,001 probably benign Het
Gm17079 T C 14: 51,693,067 N107S possibly damaging Het
Gpr68 A G 12: 100,878,767 F173L probably damaging Het
Hgf G T 5: 16,564,794 V89F possibly damaging Het
Igsf10 A T 3: 59,328,231 S1510T probably benign Het
Izumo2 T G 7: 44,708,837 L32R probably damaging Het
Mark2 A G 19: 7,284,490 L359P probably damaging Het
Myo15b A G 11: 115,877,002 K1376R probably benign Het
Ncam1 G A 9: 49,543,083 R543* probably null Het
Pax2 A G 19: 44,835,409 N347S possibly damaging Het
Ppargc1a A G 5: 51,474,156 L377P probably benign Het
Pum3 A G 19: 27,425,957 V48A probably benign Het
Rad1 T C 15: 10,493,251 Y255H probably benign Het
Rimbp2 C T 5: 128,788,154 probably null Het
Rpn2 A G 2: 157,302,408 N330S probably benign Het
Rptn A G 3: 93,397,171 S604G probably benign Het
Rragc A G 4: 123,921,111 D200G probably benign Het
Slco4a1 T G 2: 180,473,128 F615V probably damaging Het
Snx2 T C 18: 53,189,721 S59P probably benign Het
Timp4 A T 6: 115,246,399 probably null Het
Tln2 A G 9: 67,240,810 probably benign Het
Txnrd1 C A 10: 82,895,974 probably null Het
Other mutations in Il4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Il4 APN 11 53618174 missense probably damaging 0.98
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