Incidental Mutation 'R9544:Il4'
ID 720013
Institutional Source Beutler Lab
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 # R9544 (G1)
Quality Score 224.009
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: 99.9%
  • 10x: 99.1%
  • 20x: 96.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A G 6: 133,271,202 (GRCm39) E82G possibly damaging Het
Adra2a C G 19: 54,035,454 (GRCm39) P270R probably benign Het
Alox12b A T 11: 69,054,812 (GRCm39) I272F possibly damaging Het
Als2 C A 1: 59,250,468 (GRCm39) E425D probably benign Het
Arhgap21 C A 2: 20,858,938 (GRCm39) C1252F possibly damaging Het
Arhgap31 T G 16: 38,423,976 (GRCm39) T697P probably damaging Het
Aspm C A 1: 139,385,523 (GRCm39) T389K probably benign Het
B4galnt3 T A 6: 120,209,905 (GRCm39) I73F probably damaging Het
Btn2a2 A G 13: 23,672,008 (GRCm39) V27A probably benign Het
Cep97 A T 16: 55,735,303 (GRCm39) N570K possibly damaging Het
Cfh T C 1: 140,036,266 (GRCm39) I751V probably benign Het
Chd3 A G 11: 69,241,046 (GRCm39) C1516R probably damaging Het
Cul3 A G 1: 80,258,576 (GRCm39) F487L probably damaging Het
Dock1 T C 7: 134,348,186 (GRCm39) S266P possibly damaging Het
Dock6 A T 9: 21,732,830 (GRCm39) Y1118* probably null Het
Dolpp1 T A 2: 30,282,515 (GRCm39) Y23N probably damaging Het
Egf T C 3: 129,511,617 (GRCm39) M517V probably benign Het
Endou C A 15: 97,609,969 (GRCm39) K442N probably damaging Het
Fam210b C T 2: 172,194,633 (GRCm39) R162W probably damaging Het
Fbxw27 ATGT AT 9: 109,602,322 (GRCm39) probably null Het
Flt3 T A 5: 147,291,442 (GRCm39) Q641L possibly damaging Het
Ighv3-3 T A 12: 114,160,270 (GRCm39) I47F probably damaging Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Kcnq2 T G 2: 180,729,407 (GRCm39) D532A probably damaging Het
Krtap11-1 A C 16: 89,368,062 (GRCm39) probably benign Het
Lamp3 T A 16: 19,494,832 (GRCm39) probably null Het
Lcn3 A T 2: 25,656,151 (GRCm39) I69L probably benign Het
Lrrc43 A T 5: 123,641,307 (GRCm39) H497L probably damaging Het
Luc7l2 T G 6: 38,580,315 (GRCm39) S305A unknown Het
Malrd1 C T 2: 15,640,809 (GRCm39) T513I unknown Het
Mllt3 T A 4: 87,759,418 (GRCm39) D210V probably damaging Het
Mmp14 A G 14: 54,673,251 (GRCm39) H53R possibly damaging Het
Ndst4 A C 3: 125,476,808 (GRCm39) H11P probably damaging Het
Nln G A 13: 104,198,356 (GRCm39) T152M probably benign Het
Oas1c A G 5: 120,946,202 (GRCm39) F99L probably benign Het
Or10s1 T C 9: 39,986,353 (GRCm39) L254P probably damaging Het
Or1e35 T C 11: 73,797,637 (GRCm39) K227R probably benign Het
Or1j11 G T 2: 36,311,784 (GRCm39) A125S probably damaging Het
Or5w15 G A 2: 87,568,644 (GRCm39) T8I probably benign Het
Or7g25 T A 9: 19,160,561 (GRCm39) I45F probably damaging Het
Pappa2 C A 1: 158,784,817 (GRCm39) Q64H probably damaging Het
Pcdhb15 T C 18: 37,608,948 (GRCm39) F727L probably benign Het
Pcsk1 A T 13: 75,259,039 (GRCm39) N271I probably damaging Het
Pkhd1l1 G A 15: 44,410,239 (GRCm39) G2582D probably damaging Het
Psma4 A T 9: 54,862,245 (GRCm39) Q123L probably damaging Het
Selenbp2 A T 3: 94,605,368 (GRCm39) I127F possibly damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc29a3 G T 10: 60,551,960 (GRCm39) C361* probably null Het
Slx4 C A 16: 3,797,917 (GRCm39) R1489L probably damaging Het
Sorl1 A C 9: 41,993,105 (GRCm39) Y306* probably null Het
Tbc1d16 G T 11: 119,101,335 (GRCm39) H58Q probably damaging Het
Tfdp2 A G 9: 96,169,663 (GRCm39) T5A probably damaging Het
Thbs1 G T 2: 117,953,932 (GRCm39) G1061V probably damaging Het
Timm29 G A 9: 21,504,662 (GRCm39) R110H probably damaging Het
Tmf1 C T 6: 97,147,293 (GRCm39) E558K possibly damaging Het
Trappc11 T C 8: 47,972,713 (GRCm39) T287A possibly damaging Het
Unc119b G A 5: 115,272,827 (GRCm39) T48M probably benign Het
Vmn1r123 T C 7: 20,896,987 (GRCm39) I293T probably benign Het
Vmn2r67 G A 7: 84,786,317 (GRCm39) H563Y possibly damaging Het
Vps8 G T 16: 21,336,893 (GRCm39) V763L probably benign Het
Wdr3 A T 3: 100,050,752 (GRCm39) Y722* probably null Het
Xrn1 A G 9: 95,920,756 (GRCm39) T1339A probably benign Het
Zfp827 T A 8: 79,905,604 (GRCm39) H860Q 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
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
R9545:Il4 UTSW 11 53,504,837 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCGACTGGTCTTCAATGCTGC -3'
(R):5'- TGGCCTTACTGACCTCAAGG -3'

Sequencing Primer
(F):5'- AATGCTGCTCTCATTGTGCCAG -3'
(R):5'- GGGGCAGAAAAAACCTCT -3'
Posted On 2022-07-18