Incidental Mutation 'IGL02606:Il1rn'
ID 300301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1rn
Ensembl Gene ENSMUSG00000026981
Gene Name interleukin 1 receptor antagonist
Synonyms F630041P17Rik, IL-1ra
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL02606
Quality Score
Status
Chromosome 2
Chromosomal Location 24226872-24241503 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 24235462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114482] [ENSMUST00000114485] [ENSMUST00000114487] [ENSMUST00000142093]
AlphaFold P25085
Predicted Effect probably benign
Transcript: ENSMUST00000114482
SMART Domains Protein: ENSMUSP00000110126
Gene: ENSMUSG00000026981

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IL1 34 175 2.88e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114485
SMART Domains Protein: ENSMUSP00000110129
Gene: ENSMUSG00000026981

DomainStartEndE-ValueType
IL1 18 159 2.88e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114487
SMART Domains Protein: ENSMUSP00000110131
Gene: ENSMUSG00000026981

DomainStartEndE-ValueType
IL1 15 156 2.88e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142093
SMART Domains Protein: ENSMUSP00000141269
Gene: ENSMUSG00000026981

DomainStartEndE-ValueType
PDB:1IRP|A 8 50 1e-21 PDB
Blast:IL1 15 50 9e-20 BLAST
SCOP:d1ilr1_ 16 50 3e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143423
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 member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jan 2016]
PHENOTYPE: Nullizygous mutations of this gene may result in decreased body weight, increased inflammatory response to turpentine and LPS, decreased susceptibility to bacterial infection, psoriasis, aortitis, rheumatoid arthritis, and abnormal dendritic and CD4-positive T cell morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,099,978 (GRCm39) N74I probably benign Het
Abr T C 11: 76,369,990 (GRCm39) K75R probably damaging Het
Adcy10 A C 1: 165,347,087 (GRCm39) D368A possibly damaging Het
Alas1 A G 9: 106,118,309 (GRCm39) probably benign Het
Alms1 T A 6: 85,576,949 (GRCm39) D168E probably benign Het
Ankar C T 1: 72,729,444 (GRCm39) A82T possibly damaging Het
Atp2c2 C T 8: 120,457,013 (GRCm39) T205I probably benign Het
Atp9a A T 2: 168,494,588 (GRCm39) L639Q probably damaging Het
Btf3l4 T C 4: 108,675,411 (GRCm39) D134G probably benign Het
Cacna1s T C 1: 136,007,257 (GRCm39) C425R probably damaging Het
Cct6b G T 11: 82,627,271 (GRCm39) T322N probably damaging Het
Col19a1 G A 1: 24,573,197 (GRCm39) R192* probably null Het
Cyp8b1 A T 9: 121,744,801 (GRCm39) F177Y probably damaging Het
Dnajc11 T A 4: 152,063,941 (GRCm39) N474K probably benign Het
Dusp16 T C 6: 134,737,999 (GRCm39) E13G probably damaging Het
Ephx2 T C 14: 66,323,741 (GRCm39) N397S probably damaging Het
Fancm T C 12: 65,122,913 (GRCm39) V145A possibly damaging Het
Fiz1 A G 7: 5,012,158 (GRCm39) L120P possibly damaging Het
Galnt6 C T 15: 100,612,100 (GRCm39) V181M probably damaging Het
Ginm1 A G 10: 7,646,163 (GRCm39) V279A probably damaging Het
Gja10 T G 4: 32,601,509 (GRCm39) I292L probably benign Het
Gnb3 T C 6: 124,814,378 (GRCm39) S136G probably benign Het
Gramd1a A T 7: 30,833,940 (GRCm39) V495E probably damaging Het
Itpr3 A G 17: 27,333,486 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,937 (GRCm39) S229P possibly damaging Het
Kdm4a T C 4: 118,017,486 (GRCm39) T527A probably benign Het
Kif14 C T 1: 136,424,331 (GRCm39) A982V probably damaging Het
Klf6 A G 13: 5,916,734 (GRCm39) K293R probably damaging Het
Letmd1 A G 15: 100,372,972 (GRCm39) D92G probably damaging Het
Lmod1 G A 1: 135,292,218 (GRCm39) V358M probably benign Het
Ndufs1 A T 1: 63,199,011 (GRCm39) D295E probably damaging Het
Nek4 A G 14: 30,685,916 (GRCm39) N283S probably benign Het
Nhsl1 A G 10: 18,387,385 (GRCm39) T220A probably damaging Het
Nucks1 T A 1: 131,852,363 (GRCm39) D71E probably damaging Het
Or4n4 T C 14: 50,519,530 (GRCm39) Y60C probably damaging Het
Or8g18 C A 9: 39,149,490 (GRCm39) V77F probably damaging Het
Pkhd1l1 A G 15: 44,452,852 (GRCm39) T3926A probably benign Het
Pptc7 T A 5: 122,451,651 (GRCm39) probably benign Het
Prdm11 A G 2: 92,805,948 (GRCm39) V334A probably benign Het
Ptdss2 C A 7: 140,732,911 (GRCm39) C231* probably null Het
R3hdm1 C T 1: 128,118,456 (GRCm39) P570S probably benign Het
Rlbp1 T C 7: 79,027,037 (GRCm39) T208A possibly damaging Het
Rnaseh2a T G 8: 85,686,723 (GRCm39) D142A probably damaging Het
Rufy4 C T 1: 74,172,509 (GRCm39) probably benign Het
Tektl1 A G 10: 78,584,300 (GRCm39) Y372H probably benign Het
Tlcd4 G T 3: 121,022,013 (GRCm39) D128E possibly damaging Het
Ttn A G 2: 76,646,565 (GRCm39) I11081T possibly damaging Het
Ubap2l A T 3: 89,945,735 (GRCm39) S173R probably damaging Het
Vmn1r80 A G 7: 11,926,959 (GRCm39) N23S probably damaging Het
Vwce C A 19: 10,632,712 (GRCm39) probably benign Het
Other mutations in Il1rn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01516:Il1rn APN 2 24,239,551 (GRCm39) missense probably damaging 1.00
R1251:Il1rn UTSW 2 24,235,582 (GRCm39) missense probably damaging 1.00
R1943:Il1rn UTSW 2 24,238,611 (GRCm39) missense possibly damaging 0.94
R4284:Il1rn UTSW 2 24,239,557 (GRCm39) missense probably damaging 0.96
R4285:Il1rn UTSW 2 24,239,557 (GRCm39) missense probably damaging 0.96
R4287:Il1rn UTSW 2 24,239,557 (GRCm39) missense probably damaging 0.96
R5317:Il1rn UTSW 2 24,239,554 (GRCm39) missense probably benign 0.30
R5322:Il1rn UTSW 2 24,238,641 (GRCm39) critical splice donor site probably null
R6662:Il1rn UTSW 2 24,226,887 (GRCm39) start gained probably null
R7427:Il1rn UTSW 2 24,239,554 (GRCm39) missense probably benign 0.16
R8821:Il1rn UTSW 2 24,239,505 (GRCm39) missense possibly damaging 0.74
R8831:Il1rn UTSW 2 24,239,505 (GRCm39) missense possibly damaging 0.74
Posted On 2015-04-16