Incidental Mutation 'R6555:Il36a'
ID 522055
Institutional Source Beutler Lab
Gene Symbol Il36a
Ensembl Gene ENSMUSG00000026984
Gene Name interleukin 36A
Synonyms Fil1epsilon, IL-1H1, If36a, Il1f6, Fil1
MMRRC Submission 044680-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6555 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 24105429-24115713 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 24114611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028361]
AlphaFold Q9JLA2
Predicted Effect probably null
Transcript: ENSMUST00000028361
SMART Domains Protein: ENSMUSP00000028361
Gene: ENSMUSG00000026984

DomainStartEndE-ValueType
IL1 14 157 4.09e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144442
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (40/41)
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 cytokine that can activate NF-kappa-B and MAPK signaling pathways to generate an inflammatory response. The encoded protein functions primarily in skin and demonstrates increased expression in psoriasis. In addition, decreased expression of this gene has been linked to a poor prognosis in both hepatocellular carcinoma and colorectal cancer patients. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,752,468 (GRCm39) I480V probably damaging Het
Akap1 A T 11: 88,735,708 (GRCm39) I351N probably damaging Het
C1qtnf3 A G 15: 10,975,742 (GRCm39) M256V probably damaging Het
Carm1 T A 9: 21,498,258 (GRCm39) C421S probably damaging Het
Celsr2 T C 3: 108,302,235 (GRCm39) D2631G probably damaging Het
Cfap206 A G 4: 34,719,049 (GRCm39) V319A probably damaging Het
Cntnap2 T A 6: 46,736,694 (GRCm39) W707R probably damaging Het
Ctss T A 3: 95,450,340 (GRCm39) L97* probably null Het
Eif2ak4 A T 2: 118,258,350 (GRCm39) N455Y probably damaging Het
Ercc6 G A 14: 32,239,064 (GRCm39) E51K probably benign Het
Gm10318 G A 10: 77,688,855 (GRCm39) probably benign Het
Gp6 C T 7: 4,387,929 (GRCm39) R180Q probably damaging Het
Gtsf1 T C 15: 103,333,902 (GRCm39) I25V probably damaging Het
Igkv1-99 A G 6: 68,519,300 (GRCm39) R85G probably damaging Het
Iqsec3 T C 6: 121,361,178 (GRCm39) H935R probably damaging Het
Loxhd1 T C 18: 77,380,965 (GRCm39) V94A possibly damaging Het
Lrp2 T C 2: 69,339,647 (GRCm39) K1088R probably benign Het
Lsm3 GATATATA GATATATATA 6: 91,496,617 (GRCm39) probably null Het
Lyst A G 13: 13,823,510 (GRCm39) N1494S probably benign Het
Mta3 C T 17: 84,015,875 (GRCm39) R26W probably damaging Het
Nup88 T C 11: 70,835,006 (GRCm39) R660G possibly damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or4q3 G A 14: 50,583,303 (GRCm39) Q168* probably null Het
Or5d16 T A 2: 87,773,632 (GRCm39) E113D probably damaging Het
Or8b51 C A 9: 38,569,585 (GRCm39) M34I probably benign Het
Pcdhga10 A G 18: 37,882,488 (GRCm39) T750A probably damaging Het
Plxnb1 A G 9: 108,937,473 (GRCm39) probably null Het
Ppip5k1 T C 2: 121,168,093 (GRCm39) E720G probably damaging Het
Pramel27 A G 4: 143,578,140 (GRCm39) I133M possibly damaging Het
Ptprn2 T C 12: 117,190,820 (GRCm39) Y786H probably damaging Het
Safb2 A G 17: 56,874,600 (GRCm39) V614A probably damaging Het
Safb2 A G 17: 56,889,982 (GRCm39) probably null Het
Selp C T 1: 163,969,171 (GRCm39) probably null Het
Slc16a10 T C 10: 39,956,774 (GRCm39) I122V probably benign Het
Slc22a22 G A 15: 57,122,527 (GRCm39) T131M probably benign Het
Trmt2a A T 16: 18,071,067 (GRCm39) I574F probably benign Het
Tsen54 C T 11: 115,711,519 (GRCm39) T156I probably benign Het
Vps13b A G 15: 35,846,993 (GRCm39) N2592S probably damaging Het
Wdr64 G A 1: 175,547,856 (GRCm39) R131H probably damaging Het
Other mutations in Il36a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00869:Il36a APN 2 24,106,592 (GRCm39) missense probably benign 0.21
R1109:Il36a UTSW 2 24,106,602 (GRCm39) missense probably damaging 1.00
R4657:Il36a UTSW 2 24,114,416 (GRCm39) missense possibly damaging 0.54
R4879:Il36a UTSW 2 24,106,032 (GRCm39) missense probably benign 0.06
R5213:Il36a UTSW 2 24,114,486 (GRCm39) missense probably damaging 1.00
R7779:Il36a UTSW 2 24,106,613 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGAACCTGTAAAAGCCTCTCTC -3'
(R):5'- AGCTTTGCTACGCATCACC -3'

Sequencing Primer
(F):5'- TAAAAGCCTCTCTCTTCTATCACAAG -3'
(R):5'- CTTCCAAGTACCAGTTAACAGTTGGG -3'
Posted On 2018-06-06