Incidental Mutation 'R9127:Il1a'
ID 693306
Institutional Source Beutler Lab
Gene Symbol Il1a
Ensembl Gene ENSMUSG00000027399
Gene Name interleukin 1 alpha
Synonyms Il-1a
MMRRC Submission 068926-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9127 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 129141530-129151892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129146715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 126 (Y126F)
Ref Sequence ENSEMBL: ENSMUSP00000028882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028882]
AlphaFold P01582
Predicted Effect possibly damaging
Transcript: ENSMUST00000028882
AA Change: Y126F

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028882
Gene: ENSMUSG00000027399
AA Change: Y126F

DomainStartEndE-ValueType
Pfam:IL1_propep 1 111 2.2e-38 PFAM
IL1 131 270 8.14e-70 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (82/82)
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 cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal tumor vascularization, decreased metastatic potential, and decreased interleukin-1 beta secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,242,080 (GRCm39) D1314E probably benign Het
Abcb1a A T 5: 8,724,707 (GRCm39) R47W probably benign Het
Abcc6 T C 7: 45,629,184 (GRCm39) N1354S probably damaging Het
Abracl T C 10: 17,887,444 (GRCm39) Y61C probably damaging Het
Adamtsl1 A G 4: 86,208,027 (GRCm39) T633A probably benign Het
Agap3 G A 5: 24,681,439 (GRCm39) probably benign Het
Ago4 A T 4: 126,400,904 (GRCm39) M647K probably damaging Het
Akap7 G T 10: 25,155,676 (GRCm39) S72R unknown Het
Arhgef12 A G 9: 42,885,870 (GRCm39) L1251S possibly damaging Het
Astn2 A T 4: 66,322,164 (GRCm39) V145E unknown Het
Atxn2l A T 7: 126,097,393 (GRCm39) S304R probably damaging Het
Cd226 A T 18: 89,287,155 (GRCm39) I318F probably damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cfap65 A T 1: 74,958,510 (GRCm39) probably benign Het
Cfap96 T G 8: 46,415,403 (GRCm39) D201A probably benign Het
Chtf8 A G 8: 107,613,640 (GRCm39) V18A probably benign Het
Cit G T 5: 116,074,896 (GRCm39) E683* probably null Het
Ckmt2 T C 13: 92,007,337 (GRCm39) R286G probably damaging Het
Clec4a2 T A 6: 123,116,218 (GRCm39) W128R probably damaging Het
Clec4n T G 6: 123,212,447 (GRCm39) S88A probably damaging Het
Cndp2 G A 18: 84,699,121 (GRCm39) A48V probably benign Het
Csmd1 T C 8: 16,273,286 (GRCm39) T849A probably benign Het
Cts3 A T 13: 61,715,235 (GRCm39) Y199* probably null Het
Dag1 A T 9: 108,085,734 (GRCm39) L469* probably null Het
Dclre1c T C 2: 3,439,125 (GRCm39) V225A Het
Dedd A G 1: 171,166,409 (GRCm39) D115G probably damaging Het
Efcab3 T A 11: 104,741,407 (GRCm39) V2166D probably benign Het
Eif2ak3 T A 6: 70,860,704 (GRCm39) W427R probably damaging Het
Fbln2 T A 6: 91,210,473 (GRCm39) V139D probably damaging Het
Fbn1 A T 2: 125,223,985 (GRCm39) M588K possibly damaging Het
Gm17019 A T 5: 15,081,113 (GRCm39) Y109* probably null Het
Gm32742 T A 9: 51,056,015 (GRCm39) N1255Y probably damaging Het
Gm5431 T A 11: 48,779,600 (GRCm39) K441* probably null Het
Golga2 A G 2: 32,196,079 (GRCm39) D898G Het
Gramd4 G A 15: 85,975,525 (GRCm39) R39H probably benign Het
Gucy1a2 A G 9: 3,634,553 (GRCm39) N199S probably damaging Het
Heyl G A 4: 123,139,885 (GRCm39) R148H probably damaging Het
Ifi208 A T 1: 173,523,400 (GRCm39) M557L probably benign Het
Igf2r A G 17: 12,958,238 (GRCm39) V145A probably damaging Het
Ighv1-4 A T 12: 114,450,879 (GRCm39) Y76* probably null Het
Ikzf4 T C 10: 128,468,487 (GRCm39) D664G unknown Het
Lmf2 C A 15: 89,239,771 (GRCm39) probably benign Het
Lyst T C 13: 13,808,827 (GRCm39) S166P probably damaging Het
Mgat5 A C 1: 127,294,197 (GRCm39) T180P probably benign Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Mov10 G T 3: 104,711,659 (GRCm39) Y209* probably null Het
Nol8 T C 13: 49,815,475 (GRCm39) Y528H probably benign Het
Numa1 T A 7: 101,641,869 (GRCm39) S106T possibly damaging Het
Or1e1d-ps1 A T 11: 73,819,167 (GRCm39) E39V probably damaging Het
Or4c124 G A 2: 89,156,474 (GRCm39) Q17* probably null Het
Or5b107 A G 19: 13,142,396 (GRCm39) N6S probably damaging Het
Or7g27 A G 9: 19,250,026 (GRCm39) H90R probably benign Het
Pcdhb14 A G 18: 37,582,091 (GRCm39) N399S probably damaging Het
Plcl2 T A 17: 50,918,032 (GRCm39) S944T probably benign Het
Pml A T 9: 58,127,660 (GRCm39) I695N probably benign Het
Ppard G T 17: 28,505,349 (GRCm39) R12L unknown Het
Ppip5k1 C T 2: 121,158,125 (GRCm39) probably null Het
Ppp1r3g T C 13: 36,152,621 (GRCm39) S14P probably benign Het
Pramel55 A G 5: 95,951,623 (GRCm39) Y470C probably damaging Het
Prrc2b C A 2: 32,103,764 (GRCm39) R1081S probably damaging Het
Rasgrp2 A T 19: 6,454,438 (GRCm39) E160D possibly damaging Het
Rb1cc1 G A 1: 6,333,073 (GRCm39) V1331I probably damaging Het
Rnd3 A T 2: 51,022,413 (GRCm39) S210T probably benign Het
Scaf11 T C 15: 96,312,764 (GRCm39) T1426A probably benign Het
Sin3b C T 8: 73,460,034 (GRCm39) T207I possibly damaging Het
Slc26a7 A T 4: 14,593,873 (GRCm39) Y81N probably damaging Het
Slc28a3 C T 13: 58,724,581 (GRCm39) M224I probably benign Het
Slc30a1 T C 1: 191,639,342 (GRCm39) I75T probably damaging Het
Slc6a21 T A 7: 44,929,674 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,945,243 (GRCm39) L206Q probably damaging Het
Spata31d1e A G 13: 59,890,828 (GRCm39) S331P probably benign Het
Sptbn1 A G 11: 30,104,356 (GRCm39) V116A probably damaging Het
Syngap1 G A 17: 27,181,095 (GRCm39) D1008N probably damaging Het
Syt11 T C 3: 88,669,643 (GRCm39) D83G probably benign Het
Syt14 G A 1: 192,584,131 (GRCm39) T428I probably damaging Het
Taf15 T A 11: 83,395,085 (GRCm39) Y338* probably null Het
Tfap4 A T 16: 4,365,183 (GRCm39) M253K possibly damaging Het
Tnr T C 1: 159,713,680 (GRCm39) S703P possibly damaging Het
Trrap G A 5: 144,767,830 (GRCm39) D2577N probably benign Het
Uqcc6 A T 10: 82,458,588 (GRCm39) M21K probably benign Het
Wdr20 C T 12: 110,759,597 (GRCm39) S161L possibly damaging Het
Zfp503 C A 14: 22,037,418 (GRCm39) V62L probably benign Het
Other mutations in Il1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01663:Il1a APN 2 129,146,637 (GRCm39) missense probably benign
IGL01726:Il1a APN 2 129,146,640 (GRCm39) missense possibly damaging 0.47
IGL02451:Il1a APN 2 129,148,575 (GRCm39) missense probably damaging 0.98
IGL02537:Il1a APN 2 129,150,996 (GRCm39) missense probably damaging 0.98
R0009:Il1a UTSW 2 129,150,994 (GRCm39) missense probably damaging 0.99
R0009:Il1a UTSW 2 129,150,994 (GRCm39) missense probably damaging 0.99
R0759:Il1a UTSW 2 129,146,607 (GRCm39) missense probably damaging 1.00
R1388:Il1a UTSW 2 129,148,501 (GRCm39) missense possibly damaging 0.92
R1521:Il1a UTSW 2 129,146,661 (GRCm39) missense possibly damaging 0.83
R1699:Il1a UTSW 2 129,144,813 (GRCm39) missense probably damaging 0.98
R3833:Il1a UTSW 2 129,148,599 (GRCm39) missense possibly damaging 0.81
R4591:Il1a UTSW 2 129,148,447 (GRCm39) missense probably damaging 1.00
R4643:Il1a UTSW 2 129,146,623 (GRCm39) missense probably benign
R5433:Il1a UTSW 2 129,149,821 (GRCm39) missense possibly damaging 0.79
R5572:Il1a UTSW 2 129,149,838 (GRCm39) missense possibly damaging 0.83
R7345:Il1a UTSW 2 129,146,693 (GRCm39) missense probably benign
R7876:Il1a UTSW 2 129,142,762 (GRCm39) missense probably damaging 1.00
R8116:Il1a UTSW 2 129,144,864 (GRCm39) missense probably damaging 1.00
R8162:Il1a UTSW 2 129,148,477 (GRCm39) missense possibly damaging 0.92
R8248:Il1a UTSW 2 129,144,881 (GRCm39) missense probably benign
R9048:Il1a UTSW 2 129,148,441 (GRCm39) missense probably benign
R9320:Il1a UTSW 2 129,142,654 (GRCm39) missense probably benign 0.16
R9323:Il1a UTSW 2 129,149,826 (GRCm39) missense probably benign 0.24
RF003:Il1a UTSW 2 129,144,852 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- AGGGATGTAGATAACTCTGTGC -3'
(R):5'- CAACTCTGGTGTTCCACTTGG -3'

Sequencing Primer
(F):5'- ACTCTGTGCTTTGAAAACAGAAAG -3'
(R):5'- CAACTCTGGTGTTCCACTTGGATTAG -3'
Posted On 2022-01-20