Incidental Mutation 'IGL01095:Il18'
ID 51909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il18
Ensembl Gene ENSMUSG00000039217
Gene Name interleukin 18
Synonyms Il-18, Igif
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01095
Quality Score
Status
Chromosome 9
Chromosomal Location 50466127-50493140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50490629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 88 (D88V)
Ref Sequence ENSEMBL: ENSMUSP00000151002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059081] [ENSMUST00000180021] [ENSMUST00000213916] [ENSMUST00000214117]
AlphaFold P70380
Predicted Effect probably damaging
Transcript: ENSMUST00000059081
AA Change: D88V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054591
Gene: ENSMUSG00000039217
AA Change: D88V

DomainStartEndE-ValueType
IL1 49 187 7.09e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000180021
AA Change: D88V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137193
Gene: ENSMUSG00000039217
AA Change: D88V

DomainStartEndE-ValueType
IL1 49 187 7.09e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213916
Predicted Effect probably damaging
Transcript: ENSMUST00000214117
AA Change: D88V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,079,133 (GRCm39) I364L probably benign Het
Adgra1 A G 7: 139,425,570 (GRCm39) T28A possibly damaging Het
Aldh8a1 A G 10: 21,265,180 (GRCm39) E269G probably benign Het
Alkbh7 A G 17: 57,304,470 (GRCm39) probably null Het
Ap1g2 T C 14: 55,342,571 (GRCm39) T129A probably benign Het
Ap1s1 A G 5: 137,070,663 (GRCm39) I117T probably damaging Het
Brca1 G A 11: 101,415,195 (GRCm39) P119S possibly damaging Het
Chid1 A G 7: 141,110,142 (GRCm39) V62A probably damaging Het
Cpa1 A T 6: 30,642,968 (GRCm39) I299F probably benign Het
Cuzd1 A G 7: 130,917,865 (GRCm39) V245A probably damaging Het
Ddx39b T C 17: 35,465,937 (GRCm39) S71P probably benign Het
Ddx42 A G 11: 106,138,325 (GRCm39) Y708C probably damaging Het
Dnah3 C A 7: 119,550,820 (GRCm39) L3166F probably benign Het
Erap1 A G 13: 74,816,213 (GRCm39) E114G probably benign Het
Fap G A 2: 62,354,545 (GRCm39) T448I possibly damaging Het
Fhl2 A T 1: 43,170,841 (GRCm39) Y158N probably benign Het
Fscb A G 12: 64,520,155 (GRCm39) V437A possibly damaging Het
Il5ra A T 6: 106,719,605 (GRCm39) probably benign Het
Jakmip3 A T 7: 138,622,546 (GRCm39) Q302L probably damaging Het
Lrp2 A T 2: 69,322,776 (GRCm39) Y1857* probably null Het
Meis2 T C 2: 115,694,905 (GRCm39) T406A probably benign Het
Mre11a T A 9: 14,721,120 (GRCm39) S346R probably benign Het
Myh15 A T 16: 48,952,378 (GRCm39) K816M probably damaging Het
Mysm1 C T 4: 94,856,106 (GRCm39) probably null Het
Nyap1 C A 5: 137,736,346 (GRCm39) R47L probably damaging Het
Oas3 A G 5: 120,910,954 (GRCm39) Y209H probably damaging Het
Or2v2 T G 11: 49,003,680 (GRCm39) Y291S probably damaging Het
Or4g16 A G 2: 111,136,966 (GRCm39) R139G probably benign Het
Or6c209 A G 10: 129,483,498 (GRCm39) D167G probably benign Het
Or8b42 A G 9: 38,341,811 (GRCm39) I78V probably benign Het
Or8d6 T C 9: 39,853,976 (GRCm39) V140A probably benign Het
Pde4b T C 4: 102,363,241 (GRCm39) probably null Het
Psd3 G A 8: 68,361,165 (GRCm39) T99M probably damaging Het
R3hcc1 T C 14: 69,937,477 (GRCm39) E390G probably damaging Het
Rabgap1l A C 1: 160,566,539 (GRCm39) C58W probably benign Het
Rasd1 A G 11: 59,855,117 (GRCm39) I121T probably damaging Het
Spta1 A G 1: 174,041,051 (GRCm39) N1284D probably benign Het
Tpr T C 1: 150,285,891 (GRCm39) V525A possibly damaging Het
Other mutations in Il18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02258:Il18 APN 9 50,488,003 (GRCm39) missense probably benign 0.00
R0091:Il18 UTSW 9 50,488,013 (GRCm39) splice site probably benign
R0355:Il18 UTSW 9 50,490,575 (GRCm39) splice site probably benign
R0504:Il18 UTSW 9 50,486,628 (GRCm39) missense probably damaging 0.99
R2295:Il18 UTSW 9 50,490,635 (GRCm39) missense probably benign 0.33
R4162:Il18 UTSW 9 50,490,712 (GRCm39) missense probably damaging 1.00
R5117:Il18 UTSW 9 50,492,809 (GRCm39) missense possibly damaging 0.72
R5160:Il18 UTSW 9 50,489,193 (GRCm39) critical splice donor site probably null
R7361:Il18 UTSW 9 50,490,614 (GRCm39) missense probably damaging 1.00
R7462:Il18 UTSW 9 50,476,673 (GRCm39) unclassified probably benign
R7522:Il18 UTSW 9 50,486,640 (GRCm39) missense probably damaging 1.00
R7654:Il18 UTSW 9 50,490,701 (GRCm39) missense possibly damaging 0.86
R8220:Il18 UTSW 9 50,486,616 (GRCm39) missense possibly damaging 0.54
R8319:Il18 UTSW 9 50,492,818 (GRCm39) missense possibly damaging 0.73
R8720:Il18 UTSW 9 50,476,684 (GRCm39) unclassified probably benign
R8988:Il18 UTSW 9 50,489,178 (GRCm39) missense probably damaging 1.00
R9052:Il18 UTSW 9 50,489,090 (GRCm39) missense possibly damaging 0.92
R9585:Il18 UTSW 9 50,490,661 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21