Incidental Mutation 'IGL01610:Il1r1'
ID91980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1r1
Ensembl Gene ENSMUSG00000026072
Gene Nameinterleukin 1 receptor, type I
SynonymsIL-1R1, IL-iR, CD121a, IL-1 receptor alpha chain, Il1r-1
Accession Numbers

Genbank: NM_008362, NM_001123382

Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL01610
Quality Score
Status
Chromosome1
Chromosomal Location40225080-40317257 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40302400 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 324 (E324G)
Ref Sequence ENSEMBL: ENSMUSP00000027241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027241] [ENSMUST00000114795]
PDB Structure
[]
Predicted Effect probably benign
Transcript: ENSMUST00000027241
AA Change: E324G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027241
Gene: ENSMUSG00000026072
AA Change: E324G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 38 117 2.94e-1 SMART
IG_like 132 218 5.56e0 SMART
IG 236 333 1.35e0 SMART
Blast:TIR 347 381 1e-7 BLAST
TIR 387 544 1.93e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114795
AA Change: E321G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110443
Gene: ENSMUSG00000026072
AA Change: E321G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 35 114 2.94e-1 SMART
IG_like 129 215 5.56e0 SMART
IG 233 330 1.35e0 SMART
Blast:TIR 344 378 1e-7 BLAST
TIR 384 541 1.93e-29 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection, reduced IL1b responsiveness, delayed tooth eruption, decreased susceptibility to experimental autoimmune uveoritinitis, decreased susceptibility to kidney reperfusion injury, and late onset obesity. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Gene trapped(1)

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018A14Rik T C 18: 46,199,566 probably benign Het
2810474O19Rik C T 6: 149,328,951 T1165M probably benign Het
4921524J17Rik T C 8: 85,412,242 I73V probably benign Het
4930562C15Rik T A 16: 4,851,565 probably benign Het
Abca15 T A 7: 120,340,644 V323D probably damaging Het
Acot10 T C 15: 20,665,695 Y320C probably damaging Het
Acp6 T A 3: 97,175,720 V349D possibly damaging Het
Adcy9 G T 16: 4,418,114 Q478K probably damaging Het
Akap13 A T 7: 75,747,605 I2528F probably damaging Het
Akap13 A G 7: 75,720,180 I1843V possibly damaging Het
Akap9 G A 5: 4,032,839 A1988T possibly damaging Het
Alox5 C T 6: 116,413,547 V490M probably damaging Het
Aspm C T 1: 139,489,670 R1537* probably null Het
Bmf G A 2: 118,549,158 P46S probably benign Het
Brf1 T A 12: 112,988,083 H92L probably benign Het
Chchd1 A G 14: 20,703,177 N35S probably benign Het
Cntnap3 C T 13: 64,757,301 G889S probably damaging Het
Col6a4 T C 9: 106,047,707 probably benign Het
Crispld1 A G 1: 17,746,725 probably null Het
Ddx27 T C 2: 167,022,044 probably benign Het
Dennd1b A G 1: 139,169,766 probably benign Het
Dennd4a T C 9: 64,906,884 V1461A probably damaging Het
Drc7 C T 8: 95,077,802 R843W probably damaging Het
Dync2li1 A G 17: 84,628,314 E13G probably damaging Het
Egf A G 3: 129,706,260 probably benign Het
Hpse2 T C 19: 43,384,789 S134G probably benign Het
Hydin A G 8: 110,557,713 T3206A probably benign Het
Ier5l T A 2: 30,473,954 S20C probably damaging Het
Kdm4b C T 17: 56,353,522 probably benign Het
Lztfl1 T A 9: 123,700,091 E298D probably benign Het
Myo1b A T 1: 51,776,246 M647K probably damaging Het
Olfr1106 G T 2: 87,048,288 probably benign Het
Olfr539 C T 7: 140,667,671 A128V probably damaging Het
Olfr619 A T 7: 103,604,067 T138S probably benign Het
Parvb A T 15: 84,303,465 K258M probably damaging Het
Pcdhb11 T G 18: 37,423,359 S581A probably benign Het
Pcnx2 C A 8: 125,839,633 A1024S possibly damaging Het
Pde4a T C 9: 21,211,350 probably benign Het
Pgr A T 9: 8,903,691 H571L possibly damaging Het
Phf20 G T 2: 156,302,889 E806* probably null Het
Pilra T A 5: 137,835,541 I85F probably damaging Het
Pla2g2f C T 4: 138,753,311 V125M probably damaging Het
Rb1cc1 A G 1: 6,248,481 N708S probably benign Het
Rnase4 A T 14: 51,104,921 Y34F probably damaging Het
Ropn1 A T 16: 34,666,771 I26F probably damaging Het
Rpl9-ps6 T A 19: 32,466,299 T85S probably benign Het
Scaf8 C T 17: 3,195,849 P738S probably damaging Het
Sec31a A T 5: 100,402,358 probably benign Het
Sel1l C T 12: 91,817,290 V459I probably damaging Het
Senp7 A T 16: 56,175,823 D755V possibly damaging Het
Serpinb9d A T 13: 33,198,002 K151N probably benign Het
Slc8a3 A G 12: 81,315,802 F81S probably damaging Het
Spire2 T A 8: 123,356,763 L162Q probably damaging Het
Syt17 A G 7: 118,433,993 I264T possibly damaging Het
Tbl3 A T 17: 24,704,044 V379D probably damaging Het
Tenm3 A T 8: 48,254,477 L1762Q probably damaging Het
Trerf1 A T 17: 47,319,575 noncoding transcript Het
Ttc13 T C 8: 124,676,344 D552G probably damaging Het
Tuba3a G T 6: 125,278,566 T382K possibly damaging Het
Vmn1r210 A T 13: 22,827,807 V103E probably damaging Het
Vmn1r80 A G 7: 12,193,380 H139R possibly damaging Het
Xpo7 A T 14: 70,703,230 F141Y probably damaging Het
Zfp143 T A 7: 110,074,126 Y143* probably null Het
Zfp207 T A 11: 80,385,970 C26S probably damaging Het
Other mutations in Il1r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Il1r1 APN 1 40313170 missense probably damaging 1.00
IGL01532:Il1r1 APN 1 40294928 critical splice donor site probably null
IGL01668:Il1r1 APN 1 40313329 missense probably benign 0.31
IGL01729:Il1r1 APN 1 40294826 missense probably damaging 1.00
IGL02201:Il1r1 APN 1 40313268 missense probably damaging 0.97
IGL02229:Il1r1 APN 1 40313358 missense probably damaging 0.99
IGL02428:Il1r1 APN 1 40313232 missense possibly damaging 0.74
IGL02902:Il1r1 APN 1 40302409 missense probably benign 0.09
G5030:Il1r1 UTSW 1 40313163 missense possibly damaging 0.80
R0604:Il1r1 UTSW 1 40282246 missense probably benign 0.36
R1515:Il1r1 UTSW 1 40293349 nonsense probably null
R1530:Il1r1 UTSW 1 40312361 missense probably benign 0.00
R1727:Il1r1 UTSW 1 40293264 missense probably benign 0.16
R1957:Il1r1 UTSW 1 40313140 nonsense probably null
R2163:Il1r1 UTSW 1 40294863 missense probably benign 0.00
R2313:Il1r1 UTSW 1 40313310 missense probably benign 0.19
R4345:Il1r1 UTSW 1 40297924 missense probably benign 0.00
R4622:Il1r1 UTSW 1 40312420 missense probably damaging 0.96
R4735:Il1r1 UTSW 1 40293295 missense probably benign 0.00
R5033:Il1r1 UTSW 1 40293524 missense probably damaging 1.00
R5586:Il1r1 UTSW 1 40225251 start gained probably benign
R6375:Il1r1 UTSW 1 40294890 missense probably damaging 1.00
R6383:Il1r1 UTSW 1 40313335 missense possibly damaging 0.58
R6618:Il1r1 UTSW 1 40300811 missense probably damaging 0.97
R7169:Il1r1 UTSW 1 40293359 critical splice donor site probably null
R7384:Il1r1 UTSW 1 40282261 missense possibly damaging 0.64
R7798:Il1r1 UTSW 1 40310366 missense probably benign
RF007:Il1r1 UTSW 1 40313278 missense probably damaging 1.00
Posted On2013-12-09