Incidental Mutation 'R8720:Il18'
ID 670076
Institutional Source Beutler Lab
Gene Symbol Il18
Ensembl Gene ENSMUSG00000039217
Gene Name interleukin 18
Synonyms Il-18, Igif
MMRRC Submission 068571-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8720 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 50466127-50493140 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 50476684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034568] [ENSMUST00000213916] [ENSMUST00000214117] [ENSMUST00000217236]
AlphaFold P70380
Predicted Effect probably benign
Transcript: ENSMUST00000034568
SMART Domains Protein: ENSMUSP00000034568
Gene: ENSMUSG00000032065

DomainStartEndE-ValueType
Pfam:TEX12 28 122 2e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213916
Predicted Effect probably benign
Transcript: ENSMUST00000214117
Predicted Effect probably benign
Transcript: ENSMUST00000217236
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 T C 11: 61,104,305 (GRCm39) V64A probably benign Het
Anln T C 9: 22,284,573 (GRCm39) H379R probably benign Het
Asb2 A G 12: 103,291,680 (GRCm39) Y416H probably damaging Het
Atp2b4 TTCTTC TTCTTCGTCTTC 1: 133,629,465 (GRCm39) probably benign Het
Chsy1 T A 7: 65,821,088 (GRCm39) M441K possibly damaging Het
Cmas A G 6: 142,716,929 (GRCm39) K274E probably damaging Het
Cmip A G 8: 118,138,010 (GRCm39) Y75C probably damaging Het
Col17a1 T A 19: 47,637,531 (GRCm39) probably benign Het
Col3a1 A G 1: 45,386,893 (GRCm39) Y1368C unknown Het
Cracdl A G 1: 37,652,522 (GRCm39) F1095S possibly damaging Het
Cspg4 C T 9: 56,794,797 (GRCm39) T844I probably benign Het
Dnai7 G T 6: 145,150,983 (GRCm39) R30S unknown Het
Ect2 A T 3: 27,169,647 (GRCm39) N766K probably damaging Het
Fanci C A 7: 79,089,425 (GRCm39) Q954K possibly damaging Het
Gm30083 A G 14: 33,736,895 (GRCm39) S21P probably benign Het
Gulo C T 14: 66,225,074 (GRCm39) E422K probably benign Het
Helq A G 5: 100,914,561 (GRCm39) V977A probably damaging Het
Herc1 A G 9: 66,389,105 (GRCm39) D3874G probably benign Het
Hsf4 G T 8: 105,996,605 (GRCm39) D34Y probably damaging Het
Il22ra2 A T 10: 19,508,599 (GRCm39) E209V probably damaging Het
Ino80 A T 2: 119,232,868 (GRCm39) L1150Q probably damaging Het
Kif16b A G 2: 142,691,792 (GRCm39) F231L probably damaging Het
Krtap19-4 A G 16: 88,681,846 (GRCm39) Y37H unknown Het
Lama4 A T 10: 38,971,079 (GRCm39) D1548V probably damaging Het
Lrig2 C T 3: 104,418,998 (GRCm39) A4T probably damaging Het
Lrp4 A T 2: 91,324,459 (GRCm39) I1265F probably damaging Het
Muc16 T A 9: 18,552,896 (GRCm39) T4466S probably benign Het
Myo1e A G 9: 70,204,570 (GRCm39) I57V possibly damaging Het
Naip2 A T 13: 100,298,630 (GRCm39) Y469N probably benign Het
Nav1 G A 1: 135,388,464 (GRCm39) R1065C unknown Het
Nps C T 7: 134,874,045 (GRCm39) R72C probably damaging Het
Nup210l G A 3: 90,117,681 (GRCm39) V1796I probably benign Het
Pdzd7 T C 19: 45,024,667 (GRCm39) K451E probably benign Het
Pigv A T 4: 133,392,968 (GRCm39) D67E probably damaging Het
Pik3cg A T 12: 32,243,688 (GRCm39) F928I probably benign Het
Pkn3 A G 2: 29,975,196 (GRCm39) N486D probably benign Het
Ppp2r3d A G 9: 101,089,084 (GRCm39) L413P probably damaging Het
Rbm45 G T 2: 76,210,711 (GRCm39) R414L probably damaging Het
Sap30l A T 11: 57,698,875 (GRCm39) N116I probably damaging Het
Slc17a5 A T 9: 78,485,945 (GRCm39) F47I probably damaging Het
Slco1a7 A T 6: 141,668,852 (GRCm39) S527T probably benign Het
Srbd1 A T 17: 86,358,571 (GRCm39) D659E probably damaging Het
Sycp3 A G 10: 88,298,394 (GRCm39) Q40R probably benign Het
Trip13 T C 13: 74,063,590 (GRCm39) S374G probably benign Het
Ubr4 T C 4: 139,208,149 (GRCm39) probably null Het
Ush2a G A 1: 188,090,715 (GRCm39) V449I probably benign Het
Vmn1r211 A T 13: 23,036,031 (GRCm39) V212D probably damaging Het
Vmn2r111 T A 17: 22,792,194 (GRCm39) I21F possibly damaging Het
Zmiz2 A T 11: 6,349,904 (GRCm39) I491F possibly damaging Het
Other mutations in Il18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Il18 APN 9 50,490,629 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGAAAGAGGCATGGTCCCAG -3'
(R):5'- GCCAGTGTGCCCGAATAAAGAG -3'

Sequencing Primer
(F):5'- GCATGGTCCCAGCTTTTACAGAAG -3'
(R):5'- GAGAGACACATCTTACCTGGGC -3'
Posted On 2021-04-30