Incidental Mutation 'IGL02258:Il18'
ID286647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il18
Ensembl Gene ENSMUSG00000039217
Gene Nameinterleukin 18
SynonymsIl-18, Igif
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02258
Quality Score
Status
Chromosome9
Chromosomal Location50554827-50581840 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 50576703 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 29 (N29S)
Ref Sequence ENSEMBL: ENSMUSP00000151002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059081] [ENSMUST00000180021] [ENSMUST00000213916] [ENSMUST00000214117]
Predicted Effect probably benign
Transcript: ENSMUST00000059081
SMART Domains Protein: ENSMUSP00000054591
Gene: ENSMUSG00000039217

DomainStartEndE-ValueType
IL1 49 187 7.09e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180021
AA Change: N29S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137193
Gene: ENSMUSG00000039217
AA Change: N29S

DomainStartEndE-ValueType
IL1 49 187 7.09e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213916
AA Change: N29S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214117
AA Change: N29S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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 proinflammatory cytokine that augments natural killer cell activity in spleen cells, and stimulates interferon gamma production in T-helper type I cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for null alleles are deficient in producing IFN-gamma in response to infectious agents and have other impairments of the immune system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Diaph1 G T 18: 37,853,330 R1166S probably damaging Het
Fosl2 C A 5: 32,146,915 Q65K probably damaging Het
Hist1h2bg G T 13: 23,571,435 M1I probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr849 T A 9: 19,440,997 F28Y possibly damaging Het
Olfr849 A T 9: 19,440,999 T29S probably benign Het
Psg16 A G 7: 17,095,292 D267G probably damaging Het
Other mutations in Il18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Il18 APN 9 50579329 missense probably damaging 1.00
R0091:Il18 UTSW 9 50576713 splice site probably benign
R0355:Il18 UTSW 9 50579275 splice site probably benign
R0504:Il18 UTSW 9 50575328 missense probably damaging 0.99
R2295:Il18 UTSW 9 50579335 missense probably benign 0.33
R4162:Il18 UTSW 9 50579412 missense probably damaging 1.00
R5117:Il18 UTSW 9 50581509 missense possibly damaging 0.72
R5160:Il18 UTSW 9 50577893 critical splice donor site probably null
R7361:Il18 UTSW 9 50579314 missense probably damaging 1.00
R7462:Il18 UTSW 9 50565373 unclassified probably benign
Posted On2015-04-16