Incidental Mutation 'IGL02537:Il1a'
ID 297541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1a
Ensembl Gene ENSMUSG00000027399
Gene Name interleukin 1 alpha
Synonyms Il-1a
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02537
Quality Score
Status
Chromosome 2
Chromosomal Location 129141530-129151892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129150996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 9 (E9V)
Ref Sequence ENSEMBL: ENSMUSP00000028882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028882]
AlphaFold P01582
Predicted Effect probably damaging
Transcript: ENSMUST00000028882
AA Change: E9V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028882
Gene: ENSMUSG00000027399
AA Change: E9V

DomainStartEndE-ValueType
Pfam:IL1_propep 1 111 2.2e-38 PFAM
IL1 131 270 8.14e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144178
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Alx3 T A 3: 107,512,175 (GRCm39) M271K possibly damaging Het
Ank2 T C 3: 126,749,565 (GRCm39) E488G probably damaging Het
Arsk T A 13: 76,223,025 (GRCm39) R191* probably null Het
B230217C12Rik T C 11: 97,733,011 (GRCm39) S111P possibly damaging Het
Bckdhb A G 9: 83,871,194 (GRCm39) I158V probably benign Het
Bub1 G A 2: 127,643,267 (GRCm39) Q1026* probably null Het
C8a A G 4: 104,703,148 (GRCm39) M303T probably damaging Het
Cftr A G 6: 18,274,596 (GRCm39) T905A probably benign Het
Ciao3 C T 17: 25,997,916 (GRCm39) probably benign Het
Col14a1 A T 15: 55,208,310 (GRCm39) K132* probably null Het
Depdc5 T A 5: 33,125,131 (GRCm39) L531Q probably damaging Het
Dzip1 G A 14: 119,146,988 (GRCm39) probably benign Het
F5 C A 1: 164,020,686 (GRCm39) L1054I probably benign Het
Gm4353 A T 7: 115,682,987 (GRCm39) I198N probably damaging Het
Irag1 A T 7: 110,470,680 (GRCm39) Y678* probably null Het
Kif15 A G 9: 122,822,914 (GRCm39) T432A probably benign Het
Kndc1 T C 7: 139,490,326 (GRCm39) V276A probably benign Het
Or2aj5 A T 16: 19,424,549 (GRCm39) Y290N probably damaging Het
Or4a74 A C 2: 89,439,739 (GRCm39) S236A possibly damaging Het
Or6n2 A T 1: 173,897,020 (GRCm39) D52V possibly damaging Het
Palld T C 8: 62,137,968 (GRCm39) S596G probably benign Het
Pdc A T 1: 150,208,760 (GRCm39) D81V possibly damaging Het
Plcd4 A G 1: 74,595,209 (GRCm39) K361R possibly damaging Het
Plekhm1 T A 11: 103,288,018 (GRCm39) D43V probably damaging Het
Prpf31 G T 7: 3,641,750 (GRCm39) G356C probably damaging Het
Rbpj T A 5: 53,799,485 (GRCm39) I100K probably damaging Het
Rufy3 A G 5: 88,788,521 (GRCm39) probably benign Het
Slc40a1 C T 1: 45,950,553 (GRCm39) V300I probably benign Het
Slc6a12 A T 6: 121,337,473 (GRCm39) I386F probably benign Het
Strip1 C T 3: 107,524,210 (GRCm39) R569H possibly damaging Het
Tep1 A T 14: 51,073,570 (GRCm39) D1996E probably damaging Het
Tmem68 A G 4: 3,569,649 (GRCm39) S14P possibly damaging Het
Trav12-1 C A 14: 53,775,980 (GRCm39) C44* probably null Het
Uba1 G A X: 20,544,902 (GRCm39) R693H possibly damaging Het
Ugt2b38 T C 5: 87,569,590 (GRCm39) T246A possibly damaging Het
Usp24 A G 4: 106,249,564 (GRCm39) Y1427C probably damaging Het
Vmn2r78 A T 7: 86,603,496 (GRCm39) Y558F probably damaging Het
Wdr54 A G 6: 83,130,372 (GRCm39) W221R possibly damaging Het
Xpo4 T C 14: 57,831,290 (GRCm39) T773A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp518a T A 19: 40,903,874 (GRCm39) S1268T probably benign Het
Znfx1 T C 2: 166,898,087 (GRCm39) D279G 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
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
R9127:Il1a UTSW 2 129,146,715 (GRCm39) missense possibly damaging 0.66
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
Posted On 2015-04-16