Incidental Mutation 'IGL00869:Il1f6'
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ID11442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1f6
Ensembl Gene ENSMUSG00000026984
Gene Nameinterleukin 1 family, member 6
SynonymsFil1, IL-1H1, Fil1epsilon
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL00869
Quality Score
Status
Chromosome2
Chromosomal Location24215418-24225702 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24216580 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 59 (T59A)
Ref Sequence ENSEMBL: ENSMUSP00000028361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028361]
Predicted Effect probably benign
Transcript: ENSMUST00000028361
AA Change: T59A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028361
Gene: ENSMUSG00000026984
AA Change: T59A

DomainStartEndE-ValueType
IL1 14 157 4.09e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144442
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 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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap11a T C 2: 113,834,826 T476A probably damaging Het
AW551984 A G 9: 39,593,434 probably benign Het
Gcn1l1 T A 5: 115,588,143 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Nrm A G 17: 35,864,755 H251R probably benign Het
Sp7 G T 15: 102,358,651 A240E probably benign Het
Speer4b T C 5: 27,498,718 K141R probably damaging Het
Tmem132c C T 5: 127,563,242 H826Y possibly damaging Het
Other mutations in Il1f6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1109:Il1f6 UTSW 2 24216590 missense probably damaging 1.00
R4657:Il1f6 UTSW 2 24224404 missense possibly damaging 0.54
R4879:Il1f6 UTSW 2 24216020 missense probably benign 0.06
R5213:Il1f6 UTSW 2 24224474 missense probably damaging 1.00
R6555:Il1f6 UTSW 2 24224599 critical splice donor site probably null
R7779:Il1f6 UTSW 2 24216601 missense probably damaging 1.00
Posted On2012-12-06