Incidental Mutation 'R4643:Il1a'
ID 351714
Institutional Source Beutler Lab
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 # R4643 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 129141530-129151892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129146623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 157 (T157S)
Ref Sequence ENSEMBL: ENSMUSP00000028882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028882]
AlphaFold P01582
Predicted Effect probably benign
Transcript: ENSMUST00000028882
AA Change: T157S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028882
Gene: ENSMUSG00000027399
AA Change: T157S

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,611,396 (GRCm39) N398D probably damaging Het
Adamtsl4 G A 3: 95,591,929 (GRCm39) A58V possibly damaging Het
Anapc2 T A 2: 25,166,406 (GRCm39) V105E probably benign Het
C3ar1 A T 6: 122,827,933 (GRCm39) C95S probably damaging Het
Ccdc87 G A 19: 4,891,877 (GRCm39) G790R probably damaging Het
Cenpf A T 1: 189,391,786 (GRCm39) M682K probably benign Het
Cyp2j13 T C 4: 95,945,161 (GRCm39) Q289R possibly damaging Het
Dclk2 A T 3: 86,713,487 (GRCm39) M453K possibly damaging Het
Dscam G A 16: 96,486,501 (GRCm39) T1058M probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Grip1 A G 10: 119,856,006 (GRCm39) N659S probably damaging Het
Hectd4 A G 5: 121,487,118 (GRCm39) K3371R possibly damaging Het
Il23r A G 6: 67,400,977 (GRCm39) V451A probably benign Het
Iqch T C 9: 63,502,084 (GRCm39) T40A probably benign Het
Irag2 A T 6: 145,113,786 (GRCm39) D318V probably benign Het
Kazald1 G T 19: 45,066,788 (GRCm39) V196L probably benign Het
L1td1 T C 4: 98,626,120 (GRCm39) S772P probably damaging Het
Lgi1 A T 19: 38,289,158 (GRCm39) D145V probably damaging Het
Lrp12 A T 15: 39,735,418 (GRCm39) L838Q probably damaging Het
Mrgprf C A 7: 144,862,242 (GRCm39) P268Q probably benign Het
Myef2 T C 2: 124,958,731 (GRCm39) K66R possibly damaging Het
Myo3b A G 2: 70,069,186 (GRCm39) D475G possibly damaging Het
Numa1 C G 7: 101,649,872 (GRCm39) probably null Het
Or6c214 T C 10: 129,590,824 (GRCm39) E165G probably damaging Het
Prdm8 T C 5: 98,332,446 (GRCm39) S116P possibly damaging Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
R3hcc1l G T 19: 42,551,239 (GRCm39) V79F probably benign Het
Rasal1 C T 5: 120,817,029 (GRCm39) T779I probably benign Het
Scaper A C 9: 55,745,463 (GRCm39) F596V probably damaging Het
Slco2b1 C T 7: 99,316,214 (GRCm39) V439M probably benign Het
Slco6c1 A T 1: 96,990,149 (GRCm39) D680E probably benign Het
Smurf1 A T 5: 144,816,179 (GRCm39) F725L probably damaging Het
Snd1 A G 6: 28,880,248 (GRCm39) E674G probably benign Het
Srcap C T 7: 127,140,948 (GRCm39) P1515L probably damaging Het
Sycp2l A G 13: 41,296,941 (GRCm39) M341V probably benign Het
Tmprss6 T A 15: 78,329,556 (GRCm39) I492F probably damaging Het
Trip10 G T 17: 57,568,658 (GRCm39) E416* probably null Het
Tstd2 T C 4: 46,129,297 (GRCm39) D177G possibly damaging Het
Ugt1a5 A T 1: 88,094,147 (GRCm39) N125I possibly damaging Het
Vmn2r7 G T 3: 64,623,825 (GRCm39) S165Y probably damaging Het
Zfp663 A T 2: 165,194,925 (GRCm39) H431Q 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
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
Predicted Primers PCR Primer
(F):5'- AGTGAGCTGTCTTTTGGAACAC -3'
(R):5'- GGCGGTAACCTGAACTTCTG -3'

Sequencing Primer
(F):5'- GAACACATATTCTGTCCTTTGCAGGG -3'
(R):5'- CTGGTAATGATTTTAGAGACCATCC -3'
Posted On 2015-10-08