Incidental Mutation 'IGL01310:Il33'
ID 73637
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01310
Quality Score
Status
Chromosome 19
Chromosomal Location 29902514-29938118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29930156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 65 (A65T)
Ref Sequence ENSEMBL: ENSMUSP00000135324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025724] [ENSMUST00000120388] [ENSMUST00000136850] [ENSMUST00000144528] [ENSMUST00000177518]
AlphaFold Q8BVZ5
Predicted Effect probably benign
Transcript: ENSMUST00000025724
AA Change: A84T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025724
Gene: ENSMUSG00000024810
AA Change: A84T

DomainStartEndE-ValueType
Pfam:IL33 5 264 4.6e-146 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120388
AA Change: A84T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113829
Gene: ENSMUSG00000024810
AA Change: A84T

DomainStartEndE-ValueType
Pfam:IL33 5 264 3.4e-129 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136850
AA Change: A65T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000135324
Gene: ENSMUSG00000024810
AA Change: A65T

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: A84T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135854
Gene: ENSMUSG00000024810
AA Change: A84T

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930431F12Rik A T 5: 45,125,156 (GRCm39) noncoding transcript Het
Abca12 A T 1: 71,323,315 (GRCm39) I1589N probably benign Het
Abca8a T G 11: 109,950,801 (GRCm39) D888A probably benign Het
Adam5 C T 8: 25,232,150 (GRCm39) probably benign Het
Amer1 A T X: 94,470,716 (GRCm39) N467K probably benign Het
Atp6v0a2 A G 5: 124,783,968 (GRCm39) D272G probably damaging Het
Cacna1b A T 2: 24,575,794 (GRCm39) N751K probably damaging Het
Cfi T A 3: 129,652,080 (GRCm39) N250K probably damaging Het
Cndp2 G T 18: 84,689,002 (GRCm39) P260Q possibly damaging Het
Cnnm3 A G 1: 36,551,956 (GRCm39) D322G probably benign Het
Crybg1 A T 10: 43,851,054 (GRCm39) S1606T possibly damaging Het
Crybg1 A G 10: 43,879,596 (GRCm39) S531P probably damaging Het
Espnl A T 1: 91,268,333 (GRCm39) K320* probably null Het
Glt1d1 A G 5: 127,709,384 (GRCm39) T13A possibly damaging Het
Gpam C T 19: 55,066,764 (GRCm39) A584T possibly damaging Het
Gpr19 A G 6: 134,846,705 (GRCm39) I289T probably damaging Het
Grm8 T C 6: 27,363,800 (GRCm39) I572V probably damaging Het
Gtpbp4 A T 13: 9,027,308 (GRCm39) N502K probably benign Het
Herpud2 T C 9: 25,062,247 (GRCm39) M6V probably benign Het
Igdcc3 T C 9: 65,085,724 (GRCm39) V263A probably damaging Het
Itga9 T A 9: 118,598,227 (GRCm39) M1K probably null Het
Izumo3 T C 4: 92,035,217 (GRCm39) probably benign Het
Kdr G A 5: 76,110,261 (GRCm39) P909S probably damaging Het
Kirrel1 C T 3: 86,997,182 (GRCm39) E262K probably benign Het
Krt25 T A 11: 99,208,996 (GRCm39) Q278L probably benign Het
Lgi2 G T 5: 52,711,807 (GRCm39) P195Q probably benign Het
Lpcat3 T C 6: 124,676,301 (GRCm39) F120S possibly damaging Het
Nalcn C T 14: 123,554,661 (GRCm39) R910Q probably benign Het
Nrxn1 A G 17: 90,366,902 (GRCm39) probably null Het
Nuf2 A T 1: 169,326,431 (GRCm39) V440E probably benign Het
Or10ag60 T A 2: 87,437,852 (GRCm39) I40N possibly damaging Het
Or4f14 C T 2: 111,742,652 (GRCm39) V208M probably benign Het
Or51ah3 C T 7: 103,210,008 (GRCm39) S108F probably benign Het
Or6c205 T C 10: 129,086,865 (GRCm39) I154T possibly damaging Het
Pfpl A G 19: 12,405,974 (GRCm39) D75G probably damaging Het
Pgm5 A G 19: 24,812,130 (GRCm39) V134A possibly damaging Het
Prkch A G 12: 73,805,787 (GRCm39) I521V possibly damaging Het
Rps6kc1 T A 1: 190,515,822 (GRCm39) E968V probably benign Het
Slc25a30 T C 14: 76,007,037 (GRCm39) Y153C probably damaging Het
Smtnl2 T A 11: 72,292,171 (GRCm39) probably null Het
Spmip4 C A 6: 50,551,175 (GRCm39) V425L probably benign Het
Tbc1d14 T A 5: 36,700,544 (GRCm39) K275* probably null Het
Tnc T C 4: 63,931,314 (GRCm39) T799A probably benign Het
Trdn A T 10: 33,181,094 (GRCm39) probably benign Het
Ttn T C 2: 76,706,879 (GRCm39) probably benign Het
Uaca T C 9: 60,779,507 (GRCm39) M1296T probably benign Het
Ubash3a A C 17: 31,434,116 (GRCm39) I154L probably benign Het
Vmn2r4 T A 3: 64,317,200 (GRCm39) probably null Het
Xpc T C 6: 91,467,089 (GRCm39) K915E probably benign Het
Zfp318 T C 17: 46,724,153 (GRCm39) I2052T possibly damaging Het
Other mutations in Il33
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
PIT4504001:Il33 UTSW 19 29,930,139 (GRCm39) missense probably benign 0.12
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
Posted On 2013-10-07