Incidental Mutation 'IGL02368:Il4'
ID 290818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il4
Ensembl Gene ENSMUSG00000000869
Gene Name interleukin 4
Synonyms Il-4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02368
Quality Score
Status
Chromosome 11
Chromosomal Location 53503287-53509492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53503463 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P07750
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: 69,083,060 (GRCm39) probably benign Het
Abca17 C A 17: 24,506,767 (GRCm39) V1196L probably benign Het
Aldh4a1 G A 4: 139,375,511 (GRCm39) W540* probably null Het
Antxr2 G A 5: 98,097,057 (GRCm39) P352L probably damaging Het
Atic C T 1: 71,603,724 (GRCm39) probably benign Het
Cfhr1 A G 1: 139,475,551 (GRCm39) probably benign Het
Clspn T C 4: 126,459,900 (GRCm39) S207P probably benign Het
Depdc1b A C 13: 108,500,113 (GRCm39) T209P probably benign Het
Exosc3 A G 4: 45,319,671 (GRCm39) I117T probably damaging Het
Eya2 T A 2: 165,605,638 (GRCm39) D347E probably damaging Het
Gm10748 G T 3: 5,280,061 (GRCm39) probably benign Het
Gm17079 T C 14: 51,930,524 (GRCm39) N107S possibly damaging Het
Gpr68 A G 12: 100,845,026 (GRCm39) F173L probably damaging Het
Hgf G T 5: 16,769,792 (GRCm39) V89F possibly damaging Het
Igsf10 A T 3: 59,235,652 (GRCm39) S1510T probably benign Het
Izumo2 T G 7: 44,358,261 (GRCm39) L32R probably damaging Het
Mark2 A G 19: 7,261,855 (GRCm39) L359P probably damaging Het
Myo15b A G 11: 115,767,828 (GRCm39) K1376R probably benign Het
Ncam1 G A 9: 49,454,383 (GRCm39) R543* probably null Het
Pax2 A G 19: 44,823,848 (GRCm39) N347S possibly damaging Het
Ppargc1a A G 5: 51,631,498 (GRCm39) L377P probably benign Het
Pum3 A G 19: 27,403,357 (GRCm39) V48A probably benign Het
Rad1 T C 15: 10,493,337 (GRCm39) Y255H probably benign Het
Rimbp2 C T 5: 128,865,218 (GRCm39) probably null Het
Rpn2 A G 2: 157,144,328 (GRCm39) N330S probably benign Het
Rptn A G 3: 93,304,478 (GRCm39) S604G probably benign Het
Rragc A G 4: 123,814,904 (GRCm39) D200G probably benign Het
Slco4a1 T G 2: 180,114,921 (GRCm39) F615V probably damaging Het
Snx2 T C 18: 53,322,793 (GRCm39) S59P probably benign Het
Timp4 A T 6: 115,223,360 (GRCm39) probably null Het
Tln2 A G 9: 67,148,092 (GRCm39) probably benign Het
Txnrd1 C A 10: 82,731,808 (GRCm39) probably null Het
Other mutations in Il4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Il4 APN 11 53,509,001 (GRCm39) missense probably damaging 0.98
R0076:Il4 UTSW 11 53,504,741 (GRCm39) missense probably damaging 1.00
R0449:Il4 UTSW 11 53,509,432 (GRCm39) start codon destroyed probably null 0.86
R1801:Il4 UTSW 11 53,509,365 (GRCm39) missense possibly damaging 0.46
R4018:Il4 UTSW 11 53,504,806 (GRCm39) start gained probably benign
R6429:Il4 UTSW 11 53,504,736 (GRCm39) missense possibly damaging 0.86
R9388:Il4 UTSW 11 53,504,837 (GRCm39) missense probably damaging 0.99
R9389:Il4 UTSW 11 53,504,837 (GRCm39) missense probably damaging 0.99
R9390:Il4 UTSW 11 53,504,837 (GRCm39) missense probably damaging 0.99
R9544:Il4 UTSW 11 53,504,837 (GRCm39) missense probably damaging 0.99
R9545:Il4 UTSW 11 53,504,837 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16