Incidental Mutation 'IGL01293:Il1rl1'
ID 72985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1rl1
Ensembl Gene ENSMUSG00000026069
Gene Name interleukin 1 receptor-like 1
Synonyms DER4, Ly84, St2-rs1, St2, T1/ST2, ST2L, ST2, Fit-1, T1, T1 gene
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01293
Quality Score
Status
Chromosome 1
Chromosomal Location 40468730-40504575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40485376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 276 (G276D)
Ref Sequence ENSEMBL: ENSMUSP00000134351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053043] [ENSMUST00000097772] [ENSMUST00000173514] [ENSMUST00000173881] [ENSMUST00000174335]
AlphaFold P14719
Predicted Effect possibly damaging
Transcript: ENSMUST00000053043
AA Change: G276D

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054914
Gene: ENSMUSG00000026069
AA Change: G276D

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IGc2 33 100 7.35e-11 SMART
IGc2 130 194 8.85e-5 SMART
IG_like 225 326 2.66e1 SMART
transmembrane domain 333 355 N/A INTRINSIC
TIR 381 543 4.23e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000097772
AA Change: G276D

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095379
Gene: ENSMUSG00000026069
AA Change: G276D

DomainStartEndE-ValueType
IGc2 33 100 7.35e-11 SMART
IGc2 130 194 8.85e-5 SMART
IG_like 225 326 2.66e1 SMART
transmembrane domain 333 355 N/A INTRINSIC
TIR 381 543 4.23e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173514
AA Change: G276D

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133784
Gene: ENSMUSG00000026069
AA Change: G276D

DomainStartEndE-ValueType
IGc2 33 100 7.35e-11 SMART
IGc2 130 194 8.85e-5 SMART
IG_like 225 326 2.66e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173881
SMART Domains Protein: ENSMUSP00000134225
Gene: ENSMUSG00000026069

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PDB:4KC3|B 27 65 4e-16 PDB
Blast:IGc2 33 65 2e-17 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000174335
AA Change: G276D

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134351
Gene: ENSMUSG00000026069
AA Change: G276D

DomainStartEndE-ValueType
IGc2 33 100 7.35e-11 SMART
IGc2 130 194 8.85e-5 SMART
IG_like 225 326 2.66e1 SMART
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 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an abnormal Th2 type inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Il1rl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Il1rl1 APN 1 40,485,329 (GRCm39) missense possibly damaging 0.85
IGL01939:Il1rl1 APN 1 40,501,168 (GRCm39) missense possibly damaging 0.80
IGL02121:Il1rl1 APN 1 40,481,463 (GRCm39) splice site probably benign
IGL02160:Il1rl1 APN 1 40,500,997 (GRCm39) missense probably benign 0.00
IGL02695:Il1rl1 APN 1 40,485,718 (GRCm39) missense possibly damaging 0.47
R0007:Il1rl1 UTSW 1 40,485,331 (GRCm39) missense possibly damaging 0.95
R0105:Il1rl1 UTSW 1 40,481,734 (GRCm39) splice site probably benign
R0200:Il1rl1 UTSW 1 40,480,463 (GRCm39) missense possibly damaging 0.95
R0363:Il1rl1 UTSW 1 40,481,734 (GRCm39) splice site probably benign
R0508:Il1rl1 UTSW 1 40,490,877 (GRCm39) missense possibly damaging 0.87
R0637:Il1rl1 UTSW 1 40,481,734 (GRCm39) splice site probably benign
R0676:Il1rl1 UTSW 1 40,481,734 (GRCm39) splice site probably benign
R1371:Il1rl1 UTSW 1 40,481,873 (GRCm39) missense probably damaging 0.96
R2074:Il1rl1 UTSW 1 40,501,204 (GRCm39) missense probably damaging 0.99
R2309:Il1rl1 UTSW 1 40,481,817 (GRCm39) missense possibly damaging 0.46
R2426:Il1rl1 UTSW 1 40,485,779 (GRCm39) missense probably damaging 1.00
R3983:Il1rl1 UTSW 1 40,485,823 (GRCm39) missense possibly damaging 0.73
R4601:Il1rl1 UTSW 1 40,480,460 (GRCm39) missense possibly damaging 0.88
R4707:Il1rl1 UTSW 1 40,489,348 (GRCm39) missense probably damaging 0.96
R4720:Il1rl1 UTSW 1 40,485,838 (GRCm39) missense probably benign 0.24
R4784:Il1rl1 UTSW 1 40,489,348 (GRCm39) missense probably damaging 0.96
R5137:Il1rl1 UTSW 1 40,489,285 (GRCm39) missense probably benign
R5765:Il1rl1 UTSW 1 40,501,103 (GRCm39) missense probably benign 0.06
R5953:Il1rl1 UTSW 1 40,481,833 (GRCm39) missense probably benign 0.05
R6339:Il1rl1 UTSW 1 40,501,016 (GRCm39) missense possibly damaging 0.88
R7176:Il1rl1 UTSW 1 40,485,766 (GRCm39) missense probably damaging 1.00
R7677:Il1rl1 UTSW 1 40,485,864 (GRCm39) makesense probably null
R8129:Il1rl1 UTSW 1 40,490,987 (GRCm39) missense probably damaging 0.98
R8670:Il1rl1 UTSW 1 40,480,559 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07