Incidental Mutation 'PIT4504001:Il33'
ID 556041
Institutional Source Beutler Lab
Gene Symbol Il33
Ensembl Gene ENSMUSG00000024810
Gene Name interleukin 33
Synonyms Il1f11, 9230117N10Rik, NF-HEV, Il-33
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4504001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 29902514-29938118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29930139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 78 (H78L)
Ref Sequence ENSEMBL: ENSMUSP00000025724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025724] [ENSMUST00000120388] [ENSMUST00000136850] [ENSMUST00000144528] [ENSMUST00000177518]
AlphaFold Q8BVZ5
Predicted Effect probably benign
Transcript: ENSMUST00000025724
AA Change: H78L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000025724
Gene: ENSMUSG00000024810
AA Change: H78L

DomainStartEndE-ValueType
Pfam:IL33 5 264 4.6e-146 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120388
AA Change: H78L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113829
Gene: ENSMUSG00000024810
AA Change: H78L

DomainStartEndE-ValueType
Pfam:IL33 5 264 3.4e-129 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136850
AA Change: H59L

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135324
Gene: ENSMUSG00000024810
AA Change: H59L

DomainStartEndE-ValueType
Pfam:IL33 7 83 1.2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144528
SMART Domains Protein: ENSMUSP00000122319
Gene: ENSMUSG00000024810

DomainStartEndE-ValueType
Pfam:IL33 5 66 2.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177518
AA Change: H78L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135854
Gene: ENSMUSG00000024810
AA Change: H78L

DomainStartEndE-ValueType
Pfam:IL33 5 228 4.1e-115 PFAM
Coding Region Coverage
  • 1x: 92.8%
  • 3x: 90.6%
  • 10x: 84.7%
  • 20x: 71.6%
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 cytokine that binds to the IL1RL1/ST2 receptor. The encoded protein is involved in the maturation of Th2 cells and the activation of mast cells, basophils, eosinophils and natural killer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Nullizygous mutations lead to altered Type 2 immunity and increased susceptibility to parasite infection. Homozygotes for a null allele show accelerated ovarian functional decline and early reproductive aging due to impaired migration of ovarian macrophages and failed disposal of atretic follicles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T A 2: 103,547,537 (GRCm39) C970* probably null Het
Adgrv1 G A 13: 81,707,471 (GRCm39) P1312S probably damaging Het
Arid5a T C 1: 36,356,706 (GRCm39) I116T probably damaging Het
Bank1 C A 3: 135,806,180 (GRCm39) D485Y probably damaging Het
Cbln3 C T 14: 56,120,956 (GRCm39) V122M probably damaging Het
Cox10 C T 11: 63,855,042 (GRCm39) C413Y possibly damaging Het
Ctsll3 T A 13: 60,948,823 (GRCm39) D44V probably benign Het
Cuzd1 A T 7: 130,911,529 (GRCm39) N483K possibly damaging Het
Dcaf4 G A 12: 83,580,785 (GRCm39) probably null Het
Ddx60 A G 8: 62,411,147 (GRCm39) T470A probably benign Het
Dennd1b T C 1: 138,967,742 (GRCm39) V44A probably benign Het
Dusp16 C A 6: 134,716,846 (GRCm39) V154F possibly damaging Het
Ect2 G A 3: 27,181,097 (GRCm39) R586* probably null Het
Ermard T A 17: 15,279,084 (GRCm39) C460* probably null Het
Fat2 C T 11: 55,146,936 (GRCm39) G4020D possibly damaging Het
Flacc1 T A 1: 58,698,258 (GRCm39) I348F probably benign Het
Galnt16 G T 12: 80,639,191 (GRCm39) E402* probably null Het
Gm5414 T G 15: 101,534,258 (GRCm39) D282A probably damaging Het
Gm6741 C T 17: 91,544,344 (GRCm39) Q36* probably null Het
Gm7356 A T 17: 14,221,720 (GRCm39) L103Q probably damaging Het
Hcn1 A G 13: 118,112,411 (GRCm39) T792A possibly damaging Het
Hemgn T C 4: 46,395,863 (GRCm39) N458D probably benign Het
Hesx1 C A 14: 26,723,838 (GRCm39) D140E probably benign Het
Hjv A T 3: 96,435,813 (GRCm39) D357V probably damaging Het
Hmgcr A G 13: 96,799,605 (GRCm39) I163T possibly damaging Het
Igfbpl1 T C 4: 45,813,469 (GRCm39) T249A possibly damaging Het
Inpp4b A T 8: 82,768,564 (GRCm39) D691V probably damaging Het
Itpr2 T A 6: 146,131,369 (GRCm39) N1945I probably damaging Het
Lnpep A G 17: 17,799,289 (GRCm39) V122A probably benign Het
Lrp2 T C 2: 69,305,747 (GRCm39) D2938G probably damaging Het
Lrrc8c A T 5: 105,756,403 (GRCm39) Y726F probably benign Het
Magi3 G T 3: 103,922,842 (GRCm39) Q1292K probably benign Het
Mllt3 A C 4: 87,692,324 (GRCm39) F546L probably damaging Het
Mrpl14 A G 17: 46,009,147 (GRCm39) K82R probably benign Het
Noxred1 A G 12: 87,271,653 (GRCm39) V172A possibly damaging Het
Obscn A T 11: 59,023,948 (GRCm39) I574N probably damaging Het
Or2n1b A G 17: 38,460,060 (GRCm39) T194A probably benign Het
Or5k8 T A 16: 58,644,671 (GRCm39) T134S probably benign Het
Osbpl11 T A 16: 33,054,864 (GRCm39) V649D probably benign Het
Pdlim2 G T 14: 70,403,579 (GRCm39) P278T probably benign Het
Pm20d2 A C 4: 33,183,152 (GRCm39) L223V probably damaging Het
Pmpcb G T 5: 21,948,388 (GRCm39) R223L probably damaging Het
Pole2 A T 12: 69,256,759 (GRCm39) Y255* probably null Het
Rims1 T A 1: 22,467,684 (GRCm39) I317L Het
Scnn1g C A 7: 121,341,554 (GRCm39) H239N probably benign Het
Spag17 A G 3: 100,010,426 (GRCm39) probably null Het
Tenm3 A T 8: 48,746,692 (GRCm39) F1038I probably damaging Het
Tshz2 T C 2: 169,727,971 (GRCm39) F856L probably damaging Het
Ubtf A G 11: 102,197,508 (GRCm39) S715P unknown Het
Usp13 A C 3: 32,959,579 (GRCm39) S557R probably damaging Het
Usp19 T A 9: 108,370,169 (GRCm39) S43T probably benign Het
Vmn2r7 A T 3: 64,623,397 (GRCm39) Y308N probably benign Het
Zfp455 A G 13: 67,346,685 (GRCm39) D32G probably damaging Het
Zfp512 T A 5: 31,634,225 (GRCm39) probably null Het
Zfr A G 15: 12,166,244 (GRCm39) E838G possibly damaging Het
Other mutations in Il33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Il33 APN 19 29,930,156 (GRCm39) missense probably benign 0.00
IGL01531:Il33 APN 19 29,929,381 (GRCm39) missense possibly damaging 0.71
IGL01627:Il33 APN 19 29,929,390 (GRCm39) missense possibly damaging 0.95
IGL02535:Il33 APN 19 29,930,147 (GRCm39) missense probably benign 0.04
lacquer UTSW 19 29,929,390 (GRCm39) missense possibly damaging 0.95
R0548:Il33 UTSW 19 29,932,047 (GRCm39) missense probably benign 0.37
R0557:Il33 UTSW 19 29,932,036 (GRCm39) missense probably damaging 0.98
R1511:Il33 UTSW 19 29,932,615 (GRCm39) missense probably damaging 1.00
R1512:Il33 UTSW 19 29,929,390 (GRCm39) missense possibly damaging 0.95
R1993:Il33 UTSW 19 29,934,304 (GRCm39) missense possibly damaging 0.96
R1994:Il33 UTSW 19 29,934,304 (GRCm39) missense possibly damaging 0.96
R2035:Il33 UTSW 19 29,932,037 (GRCm39) missense probably damaging 0.98
R4779:Il33 UTSW 19 29,936,311 (GRCm39) nonsense probably null
R6429:Il33 UTSW 19 29,929,400 (GRCm39) missense probably benign 0.16
R6498:Il33 UTSW 19 29,927,137 (GRCm39) missense probably benign
R6879:Il33 UTSW 19 29,936,362 (GRCm39) missense probably damaging 0.98
R7218:Il33 UTSW 19 29,936,325 (GRCm39) missense probably damaging 0.99
R7571:Il33 UTSW 19 29,934,341 (GRCm39) missense probably damaging 1.00
X0025:Il33 UTSW 19 29,932,012 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCAAATGGTCTTCACTTTACG -3'
(R):5'- CTGATGAAGACATGCTCCCAAC -3'

Sequencing Primer
(F):5'- ACGTCATTATTAAGGAGGAATTGATC -3'
(R):5'- TTTGGATAACCACTGAACTGGTACCC -3'
Posted On 2019-06-07