Incidental Mutation 'R9388:Il4'
ID 710442
Institutional Source Beutler Lab
Gene Symbol Il4
Ensembl Gene ENSMUSG00000000869
Gene Name interleukin 4
Synonyms Il-4
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9388 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 53503287-53509492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53504837 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P07750
Predicted Effect probably damaging
Transcript: ENSMUST00000000889
AA Change: R76H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000889
Gene: ENSMUSG00000000869
AA Change: R76H

DomainStartEndE-ValueType
IL4_13 1 140 6.04e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140684
Predicted Effect probably benign
Transcript: ENSMUST00000150568
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T A 5: 113,338,714 (GRCm39) T433S probably benign Het
Abca14 A G 7: 119,882,261 (GRCm39) D1141G probably benign Het
Abca17 A G 17: 24,483,273 (GRCm39) S1728P unknown Het
Adam29 A C 8: 56,325,285 (GRCm39) C390G probably damaging Het
Angptl4 G A 17: 33,996,158 (GRCm39) R273* probably null Het
Arfgef3 T C 10: 18,505,877 (GRCm39) N929S probably benign Het
Baiap3 A G 17: 25,466,109 (GRCm39) probably null Het
Btla T C 16: 45,059,454 (GRCm39) S53P probably damaging Het
Cand1 A G 10: 119,047,213 (GRCm39) F759S possibly damaging Het
Cbll1 T C 12: 31,541,567 (GRCm39) T104A probably benign Het
Chd7 A G 4: 8,865,756 (GRCm39) M2688V possibly damaging Het
Cnot3 C A 7: 3,661,367 (GRCm39) H625Q possibly damaging Het
Dbn1 T C 13: 55,624,088 (GRCm39) I381V probably benign Het
Dennd2d T A 3: 106,395,915 (GRCm39) N135K possibly damaging Het
Dnah7c T C 1: 46,779,886 (GRCm39) I3196T probably damaging Het
Dock2 C A 11: 34,212,460 (GRCm39) R1227L possibly damaging Het
Esr1 A G 10: 4,919,179 (GRCm39) E423G probably benign Het
Ganab A G 19: 8,892,302 (GRCm39) Q826R probably damaging Het
Herc4 T A 10: 63,143,522 (GRCm39) M684K probably benign Het
Hipk2 A G 6: 38,707,956 (GRCm39) L613P probably damaging Het
Hpf1 A T 8: 61,353,182 (GRCm39) I188L probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Kif1a C A 1: 93,000,029 (GRCm39) probably null Het
Kng1 A T 16: 22,898,388 (GRCm39) Y596F possibly damaging Het
Lrrc8d T A 5: 105,961,862 (GRCm39) H757Q probably damaging Het
Med24 A T 11: 98,600,893 (GRCm39) I600N possibly damaging Het
Mmp10 G A 9: 7,504,170 (GRCm39) W203* probably null Het
Mnt C T 11: 74,727,450 (GRCm39) A112V probably benign Het
Myh7b A T 2: 155,472,983 (GRCm39) N1415Y probably benign Het
Nipal1 T A 5: 72,825,557 (GRCm39) *417R probably null Het
Nlrp4c C T 7: 6,069,874 (GRCm39) Q592* probably null Het
Obscn T C 11: 58,943,489 (GRCm39) E4220G probably damaging Het
Or10al7 C T 17: 38,366,148 (GRCm39) C103Y probably damaging Het
Or13a23-ps1 G T 7: 140,118,928 (GRCm39) C166F unknown Het
Or2w1b T C 13: 21,300,774 (GRCm39) L304P probably damaging Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Pcdhb20 A T 18: 37,638,853 (GRCm39) I460F probably benign Het
Prb1b T C 6: 132,289,437 (GRCm39) Q129R unknown Het
Primpol G A 8: 47,034,605 (GRCm39) T441I possibly damaging Het
Ptprc A G 1: 138,011,380 (GRCm39) V583A possibly damaging Het
Rfx6 T C 10: 51,554,117 (GRCm39) V71A possibly damaging Het
Rgsl1 T C 1: 153,693,355 (GRCm39) I574V probably benign Het
Rims3 A G 4: 120,748,552 (GRCm39) I258V possibly damaging Het
Sec16b T C 1: 157,388,393 (GRCm39) Y776H probably benign Het
Skint6 C T 4: 113,049,838 (GRCm39) D276N possibly damaging Het
Slc45a1 T C 4: 150,727,067 (GRCm39) D184G probably damaging Het
St6galnac4 A T 2: 32,479,625 (GRCm39) S61C probably damaging Het
Stab1 C T 14: 30,876,312 (GRCm39) V926M probably damaging Het
Stat1 A T 1: 52,193,037 (GRCm39) K642N possibly damaging Het
Tmprss3 A G 17: 31,410,041 (GRCm39) F191S probably damaging Het
Ube2o T C 11: 116,430,210 (GRCm39) D1176G possibly damaging Het
Usp17ld G T 7: 102,900,145 (GRCm39) N262K probably benign Het
Xpnpep1 T C 19: 52,993,233 (GRCm39) K365E probably damaging Het
Other mutations in Il4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Il4 APN 11 53,509,001 (GRCm39) missense probably damaging 0.98
IGL02368:Il4 APN 11 53,503,463 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCGACTGGTCTTCAATGCTGC -3'
(R):5'- GTGTGGCCTTACTGACCTCAAG -3'

Sequencing Primer
(F):5'- AATGCTGCTCTCATTGTGCCAG -3'
(R):5'- GGGGCAGAAAAAACCTCT -3'
Posted On 2022-04-18