Incidental Mutation 'IGL02027:Il1f9'
ID184226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1f9
Ensembl Gene ENSMUSG00000044103
Gene Nameinterleukin 1 family, member 9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL02027
Quality Score
Status
Chromosome2
Chromosomal Location24186476-24193568 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24192785 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 191 (I191L)
Ref Sequence ENSEMBL: ENSMUSP00000053391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057567]
Predicted Effect probably benign
Transcript: ENSMUST00000057567
AA Change: I191L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000053391
Gene: ENSMUSG00000044103
AA Change: I191L

DomainStartEndE-ValueType
IL1 43 190 7.91e-5 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 cytokine family. The activity of this cytokine is mediated by interleukin 1 receptor-like 2 (IL1RL2/IL1R-rp2), and is specifically inhibited by interleukin 1 family, member 5 (IL1F5/IL-1 delta). Interferon-gamma, tumor necrosis factor-alpha and interleukin 1, beta (IL1B) are reported to stimulate the expression of this cytokine in keratinocytes. The expression of this cytokine in keratinocytes can also be induced by a contact hypersensitivity reaction or herpes simplex virus infection. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor1 A G 1: 134,431,185 T312A probably benign Het
Begain T G 12: 109,034,309 K384Q possibly damaging Het
C2cd6 T C 1: 59,060,604 I393V probably benign Het
Catsperz A G 19: 6,925,296 V5A probably benign Het
Cbx1 T A 11: 96,801,489 F67L probably damaging Het
Cerkl T C 2: 79,341,286 probably benign Het
Ctgf A G 10: 24,596,409 S117G probably damaging Het
Cubn G T 2: 13,287,594 D3259E probably damaging Het
Cyp2u1 A G 3: 131,297,951 Y307H probably damaging Het
Dcaf6 A C 1: 165,424,341 D71E probably damaging Het
Dclk3 A T 9: 111,467,843 K152* probably null Het
Fcgbp G A 7: 28,075,204 D68N probably damaging Het
Gm6576 A G 15: 27,025,866 noncoding transcript Het
Has2 T C 15: 56,668,171 T383A probably damaging Het
Htr1f T A 16: 64,926,321 K203* probably null Het
Iqgap3 T C 3: 88,087,342 I116T possibly damaging Het
Itga1 C T 13: 114,990,055 probably null Het
Kif5b T C 18: 6,209,089 D891G possibly damaging Het
Krt74 T C 15: 101,756,794 noncoding transcript Het
Lama3 A G 18: 12,516,513 K1776E probably damaging Het
Lats1 T C 10: 7,712,948 S1110P probably benign Het
Lipo3 T A 19: 33,580,519 K158* probably null Het
Lrrc9 T A 12: 72,470,334 probably benign Het
Met A G 6: 17,563,727 probably benign Het
Mmp13 A G 9: 7,272,955 Y105C probably damaging Het
Mtus1 T C 8: 40,993,601 E1151G probably damaging Het
Nov T C 15: 54,747,934 V155A probably damaging Het
Nptx1 T C 11: 119,544,596 D298G possibly damaging Het
Pdlim1 T C 19: 40,243,466 N156S probably benign Het
Pdzk1 A G 3: 96,854,673 probably benign Het
Pex5 A G 6: 124,398,888 S448P probably benign Het
Polr3e G T 7: 120,930,963 R124L probably damaging Het
Ppp2r2c C T 5: 36,952,472 R392C probably damaging Het
Prpf4b T C 13: 34,889,571 I543T probably benign Het
Prr27 A G 5: 87,843,443 S305G possibly damaging Het
Repin1 A G 6: 48,596,473 H56R probably damaging Het
Ryr2 A T 13: 11,597,112 L408H probably damaging Het
Sbf2 T A 7: 110,461,141 Q205H probably damaging Het
Sgo2b G A 8: 63,926,829 P990S probably benign Het
Slc33a1 G T 3: 63,948,141 P361Q probably damaging Het
Tmem98 T C 11: 80,815,657 probably benign Het
Ttc25 C T 11: 100,569,902 T495M probably damaging Het
Vmn1r16 T C 6: 57,323,059 T193A possibly damaging Het
Vmn1r5 T A 6: 56,985,655 I105K probably damaging Het
Zfp473 A T 7: 44,738,038 probably benign Het
Other mutations in Il1f9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03190:Il1f9 APN 2 24187260 nonsense probably null
IGL03047:Il1f9 UTSW 2 24192707 missense probably damaging 1.00
R2384:Il1f9 UTSW 2 24192648 missense probably benign 0.43
R5158:Il1f9 UTSW 2 24192786 missense probably damaging 0.99
R5916:Il1f9 UTSW 2 24192794 makesense probably null
R6875:Il1f9 UTSW 2 24188621 critical splice acceptor site probably null
R8187:Il1f9 UTSW 2 24192605 missense probably damaging 1.00
R8357:Il1f9 UTSW 2 24188649 missense probably benign 0.45
R8457:Il1f9 UTSW 2 24188649 missense probably benign 0.45
Posted On2014-05-07