Incidental Mutation 'R9390:Il4'
ID 710555
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 # R9390 (G1)
Quality Score 225.009
Status Not 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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A T 16: 90,853,096 (GRCm39) S13R probably benign Het
Amn1 A T 6: 149,084,983 (GRCm39) D32E probably damaging Het
Asph T C 4: 9,635,927 (GRCm39) D108G probably damaging Het
C1rb T C 6: 124,557,336 (GRCm39) L491P probably damaging Het
Cep120 G A 18: 53,839,984 (GRCm39) R759* probably null Het
Chmp6 C T 11: 119,806,288 (GRCm39) T38M possibly damaging Het
Comtd1 A G 14: 21,898,867 (GRCm39) F25S possibly damaging Het
Dthd1 G A 5: 62,975,904 (GRCm39) G193R possibly damaging Het
Dyrk1a T A 16: 94,474,330 (GRCm39) S362R probably damaging Het
Ecm2 A G 13: 49,683,792 (GRCm39) D590G probably benign Het
Exd1 A T 2: 119,354,180 (GRCm39) W293R probably damaging Het
Fam110a C T 2: 151,812,116 (GRCm39) R218Q probably benign Het
Fga A T 3: 82,940,610 (GRCm39) N755Y probably damaging Het
Fstl4 C A 11: 52,891,102 (GRCm39) T80K probably benign Het
Gbp5 A G 3: 142,208,783 (GRCm39) K109E probably benign Het
Gucy2g A G 19: 55,190,607 (GRCm39) V1009A probably null Het
Herc6 C T 6: 57,602,955 (GRCm39) Q545* probably null Het
Hpd T A 5: 123,318,794 (GRCm39) probably null Het
Inpp4b T C 8: 82,497,522 (GRCm39) V114A probably damaging Het
Ints14 A G 9: 64,891,314 (GRCm39) T432A probably benign Het
Isoc1 G A 18: 58,804,350 (GRCm39) R126H probably damaging Het
Klb G T 5: 65,533,044 (GRCm39) R451L possibly damaging Het
Lrtm2 C T 6: 119,297,948 (GRCm39) C31Y probably benign Het
Mga C T 2: 119,794,332 (GRCm39) S2672F probably damaging Het
Mkrn3 T C 7: 62,069,288 (GRCm39) I168V probably benign Het
Mlph C T 1: 90,867,088 (GRCm39) T370I probably benign Het
Naaladl1 A T 19: 6,162,725 (GRCm39) I478F probably damaging Het
Neb A T 2: 52,065,157 (GRCm39) H6251Q probably benign Het
Nom1 C T 5: 29,639,766 (GRCm39) R31C probably benign Het
Nup153 A C 13: 46,840,642 (GRCm39) F989V probably damaging Het
Nup188 T C 2: 30,220,777 (GRCm39) probably null Het
Or4c12 T C 2: 89,773,569 (GRCm39) K297E probably benign Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Or6c210 A G 10: 129,495,938 (GRCm39) T88A probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pcare T C 17: 72,057,983 (GRCm39) T565A probably benign Het
Pcdhb4 T C 18: 37,442,781 (GRCm39) V697A possibly damaging Het
Pds5a G T 5: 65,823,600 (GRCm39) Q64K probably benign Het
Pmpcb T C 5: 21,953,810 (GRCm39) F353L probably damaging Het
Pus10 G A 11: 23,656,937 (GRCm39) C221Y probably damaging Het
Qrfp A G 2: 31,698,749 (GRCm39) V61A possibly damaging Het
Runx1t1 A G 4: 13,865,932 (GRCm39) I393M probably benign Het
Sh2d5 T G 4: 137,985,481 (GRCm39) S310A probably benign Het
Shisa9 A G 16: 12,085,408 (GRCm39) E339G possibly damaging Het
Slc26a10 C T 10: 127,009,239 (GRCm39) E641K probably benign Het
Slc5a6 A G 5: 31,197,803 (GRCm39) V302A possibly damaging Het
Tdrd7 T A 4: 46,005,416 (GRCm39) D407E probably damaging Het
Trp53 A T 11: 69,478,394 (GRCm39) Q101L probably benign Het
Tsc2 T A 17: 24,823,824 (GRCm39) N994Y probably damaging Het
Ttc16 T G 2: 32,657,195 (GRCm39) K577Q possibly damaging Het
Vmn1r195 A G 13: 22,462,535 (GRCm39) I2V probably benign Het
Vmn2r83 G T 10: 79,317,322 (GRCm39) E522* probably null Het
Wdr48 T A 9: 119,746,245 (GRCm39) F450L probably benign Het
Wnt9a G A 11: 59,218,592 (GRCm39) E100K possibly damaging Het
Zfp729b A T 13: 67,739,182 (GRCm39) S1028T probably benign Het
Zfp729b C T 13: 67,742,014 (GRCm39) V84I possibly 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
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
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'- TCGACTGGTCTTCAATGCTG -3'
(R):5'- TGGCCTTACTGACCTCAAGG -3'

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