Incidental Mutation 'IGL01531:Il33'
ID89760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il33
Ensembl Gene ENSMUSG00000024810
Gene Nameinterleukin 33
SynonymsNF-HEV, Il-33, Il1f11, 9230117N10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01531
Quality Score
Status
Chromosome19
Chromosomal Location29925114-29960718 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 29951981 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 35 (Q35K)
Ref Sequence ENSEMBL: ENSMUSP00000135854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025724] [ENSMUST00000120388] [ENSMUST00000136850] [ENSMUST00000144528] [ENSMUST00000177518]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025724
AA Change: Q35K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025724
Gene: ENSMUSG00000024810
AA Change: Q35K

DomainStartEndE-ValueType
Pfam:IL33 5 264 4.6e-146 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120388
AA Change: Q35K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113829
Gene: ENSMUSG00000024810
AA Change: Q35K

DomainStartEndE-ValueType
Pfam:IL33 5 264 3.4e-129 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136850
AA Change: Q16K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135324
Gene: ENSMUSG00000024810
AA Change: Q16K

DomainStartEndE-ValueType
Pfam:IL33 7 83 1.2e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000144528
AA Change: Q35K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122319
Gene: ENSMUSG00000024810
AA Change: Q35K

DomainStartEndE-ValueType
Pfam:IL33 5 66 2.4e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177518
AA Change: Q35K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135854
Gene: ENSMUSG00000024810
AA Change: Q35K

DomainStartEndE-ValueType
Pfam:IL33 5 228 4.1e-115 PFAM
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,466,958 probably null Het
Adcy1 T C 11: 7,169,414 V1019A possibly damaging Het
Blm A G 7: 80,474,071 Y1004H probably damaging Het
Btbd11 T C 10: 85,629,205 probably benign Het
Cachd1 A C 4: 100,953,034 I278L probably benign Het
Ddx18 T A 1: 121,564,586 T131S probably benign Het
Dgkd T C 1: 87,880,411 F67S probably damaging Het
Dlgap1 A G 17: 70,516,379 T120A probably damaging Het
Dnaja3 T G 16: 4,694,404 V224G probably damaging Het
Dntt A T 19: 41,053,238 R454* probably null Het
Dync2h1 T A 9: 7,071,111 T3083S probably benign Het
Eea1 C A 10: 96,031,677 T1045K probably damaging Het
Gpnmb T A 6: 49,047,458 probably benign Het
Hirip3 A G 7: 126,863,376 E108G possibly damaging Het
Il6ra G A 3: 89,886,043 L267F probably damaging Het
Impact C T 18: 12,976,019 S69F probably benign Het
Klk9 G A 7: 43,792,251 G39D probably damaging Het
Ldah A G 12: 8,227,337 D91G probably benign Het
Lrp4 T C 2: 91,511,553 L1837P probably damaging Het
Mov10l1 T A 15: 89,054,352 H1204Q probably damaging Het
Nlrp4c A G 7: 6,060,656 E21G probably damaging Het
Olfr361 T C 2: 37,085,395 M118V possibly damaging Het
Olfr629 T A 7: 103,741,114 N42I probably damaging Het
Osbpl1a T G 18: 12,933,581 K40N probably damaging Het
Ptprd T C 4: 76,085,520 T1010A probably damaging Het
Rp1 A G 1: 4,348,945 V648A probably benign Het
Scn9a T C 2: 66,537,378 K654E probably benign Het
Sema3d A G 5: 12,541,080 I309V probably benign Het
Slc6a2 T C 8: 92,995,682 L519P probably damaging Het
Stard9 A G 2: 120,673,604 I211V possibly damaging Het
Stau2 T C 1: 16,345,698 *480W probably null Het
Svopl T C 6: 38,026,941 probably benign Het
Virma A G 4: 11,528,753 E1330G probably damaging Het
Zan G A 5: 137,424,612 T2713I unknown Het
Other mutations in Il33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Il33 APN 19 29952756 missense probably benign 0.00
IGL01627:Il33 APN 19 29951990 missense possibly damaging 0.95
IGL02535:Il33 APN 19 29952747 missense probably benign 0.04
lacquer UTSW 19 29951990 missense possibly damaging 0.95
PIT4504001:Il33 UTSW 19 29952739 missense probably benign 0.12
R0548:Il33 UTSW 19 29954647 missense probably benign 0.37
R0557:Il33 UTSW 19 29954636 missense probably damaging 0.98
R1511:Il33 UTSW 19 29955215 missense probably damaging 1.00
R1512:Il33 UTSW 19 29951990 missense possibly damaging 0.95
R1993:Il33 UTSW 19 29956904 missense possibly damaging 0.96
R1994:Il33 UTSW 19 29956904 missense possibly damaging 0.96
R2035:Il33 UTSW 19 29954637 missense probably damaging 0.98
R4779:Il33 UTSW 19 29958911 nonsense probably null
R6429:Il33 UTSW 19 29952000 missense probably benign 0.16
R6498:Il33 UTSW 19 29949737 missense probably benign
R6879:Il33 UTSW 19 29958962 missense probably damaging 0.98
R7218:Il33 UTSW 19 29958925 missense probably damaging 0.99
R7571:Il33 UTSW 19 29956941 missense probably damaging 1.00
X0025:Il33 UTSW 19 29954612 missense probably damaging 0.99
Posted On2013-12-03