Incidental Mutation 'R7462:Il18'
ID 578510
Institutional Source Beutler Lab
Gene Symbol Il18
Ensembl Gene ENSMUSG00000039217
Gene Name interleukin 18
Synonyms Il-18, Igif
MMRRC Submission 045536-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7462 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 50466127-50493140 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 50476673 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (60/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 G C 3: 126,736,683 (GRCm39) T3067S unknown Het
Ankrd28 T C 14: 31,500,886 (GRCm39) N35S probably benign Het
Bicra A T 7: 15,713,060 (GRCm39) S996T possibly damaging Het
Btbd7 T C 12: 102,803,981 (GRCm39) E353G possibly damaging Het
Cdhr2 A T 13: 54,874,552 (GRCm39) I875F probably damaging Het
Ceacam5 A T 7: 17,494,764 (GRCm39) Y924F probably damaging Het
Clca4b A G 3: 144,628,621 (GRCm39) I362T probably benign Het
Dchs2 A G 3: 83,253,462 (GRCm39) probably null Het
Dlc1 T A 8: 37,405,118 (GRCm39) T224S unknown Het
Dmxl2 T C 9: 54,273,916 (GRCm39) probably null Het
Dnajc1 A G 2: 18,313,710 (GRCm39) F137S probably damaging Het
E130311K13Rik T C 3: 63,836,722 (GRCm39) T24A probably benign Het
Eya1 T C 1: 14,301,638 (GRCm39) E317G probably null Het
Fpr-rs6 A G 17: 20,402,485 (GRCm39) L292P probably damaging Het
Gca G T 2: 62,502,753 (GRCm39) D54Y possibly damaging Het
Gm45861 G A 8: 28,024,517 (GRCm39) probably null Het
Gm57858 T A 3: 36,080,055 (GRCm39) probably null Het
Gtf2a1l A G 17: 89,001,566 (GRCm39) T141A possibly damaging Het
Hgsnat T C 8: 26,447,241 (GRCm39) N351S probably benign Het
Htr1f A T 16: 64,746,383 (GRCm39) V303E probably damaging Het
Iars2 C A 1: 185,055,063 (GRCm39) W302L probably damaging Het
Igkv4-74 T A 6: 69,162,100 (GRCm39) Q23L possibly damaging Het
Ints4 A G 7: 97,155,335 (GRCm39) D329G probably benign Het
Itsn1 T C 16: 91,650,073 (GRCm39) F249S possibly damaging Het
Ktn1 A G 14: 47,932,089 (GRCm39) E672G probably null Het
Lhx6 A G 2: 35,974,083 (GRCm39) I359T possibly damaging Het
Lrp1b T C 2: 41,003,041 (GRCm39) E2030G Het
Macf1 T A 4: 123,386,556 (GRCm39) K1114N probably damaging Het
Mbd5 A G 2: 49,147,892 (GRCm39) M701V possibly damaging Het
Mcemp1 A T 8: 3,717,065 (GRCm39) M69L probably benign Het
Mfsd4b2 T A 10: 39,797,877 (GRCm39) K159N probably benign Het
Mroh2b T A 15: 4,938,109 (GRCm39) D243E probably damaging Het
Muc21 T C 17: 35,931,568 (GRCm39) S873G unknown Het
Mug1 A T 6: 121,852,399 (GRCm39) Q829L probably benign Het
Nav3 A T 10: 109,659,439 (GRCm39) V726E probably damaging Het
Nfib T C 4: 82,271,826 (GRCm39) Q247R probably benign Het
Npbwr1 T C 1: 5,987,151 (GRCm39) N121S probably damaging Het
Or1e19 T C 11: 73,316,296 (GRCm39) D171G probably benign Het
Or52b2 T A 7: 104,986,707 (GRCm39) D72V probably damaging Het
Or5h19 A T 16: 58,856,379 (GRCm39) C240* probably null Het
Pkd1l3 A G 8: 110,355,409 (GRCm39) S726G probably benign Het
Ppip5k1 A T 2: 121,167,232 (GRCm39) V847D probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Ripor2 G A 13: 24,880,290 (GRCm39) V385M unknown Het
Rufy1 C T 11: 50,298,655 (GRCm39) V379M possibly damaging Het
S100a5 A G 3: 90,517,207 (GRCm39) K26R probably damaging Het
Sin3a T C 9: 57,002,809 (GRCm39) S234P probably benign Het
Sirt7 G A 11: 120,511,618 (GRCm39) T225I probably benign Het
Slc34a1 A T 13: 24,006,401 (GRCm39) T476S probably damaging Het
Slc38a6 T A 12: 73,397,351 (GRCm39) M331K probably benign Het
Spam1 T C 6: 24,796,907 (GRCm39) I286T probably damaging Het
Syne1 T A 10: 5,002,793 (GRCm39) I214F possibly damaging Het
Tmtc1 A G 6: 148,226,643 (GRCm39) L427P probably damaging Het
Tpbg G A 9: 85,726,903 (GRCm39) A291T possibly damaging Het
Zfp40 A G 17: 23,397,362 (GRCm39) F45S possibly damaging Het
Zfp451 C T 1: 33,816,094 (GRCm39) V619M probably damaging Het
Zim1 A G 7: 6,680,811 (GRCm39) L284P probably damaging Het
Zkscan4 A G 13: 21,668,044 (GRCm39) E165G probably benign Het
Zmynd11 T A 13: 9,748,720 (GRCm39) N154Y probably benign Het
Zscan12 A T 13: 21,553,457 (GRCm39) H427L 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
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
Predicted Primers PCR Primer
(F):5'- CTGGCTTTCTGAAAGAGGCATG -3'
(R):5'- CCAGTGTGCCCGAATAAAGAG -3'

Sequencing Primer
(F):5'- GCATGGTCCCAGCTTTTACAGAAG -3'
(R):5'- GAGAGACACATCTTACCTGGGC -3'
Posted On 2019-10-07