Incidental Mutation 'IGL01979:Il20'
ID181812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il20
Ensembl Gene ENSMUSG00000026416
Gene Nameinterleukin 20
SynonymsZcyto10
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01979
Quality Score
Status
Chromosome1
Chromosomal Location130906985-130911451 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 130911102 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 42 (I42K)
Ref Sequence ENSEMBL: ENSMUSP00000141088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027673] [ENSMUST00000188581]
Predicted Effect probably damaging
Transcript: ENSMUST00000027673
AA Change: I42K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027673
Gene: ENSMUSG00000026416
AA Change: I42K

DomainStartEndE-ValueType
IL10 35 176 3.89e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188581
AA Change: I42K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141088
Gene: ENSMUSG00000026416
AA Change: I42K

DomainStartEndE-ValueType
Pfam:IL10 35 154 1.9e-8 PFAM
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 structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice show an increased inflammatory response in contact hypersensitivity assays. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik A C 16: 38,827,893 S285A possibly damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Ap3b1 T A 13: 94,448,463 L394* probably null Het
Cdk2ap1 C T 5: 124,348,709 V57M probably damaging Het
Csnk2b T A 17: 35,118,016 N65I possibly damaging Het
Dennd4a G A 9: 64,894,409 E945K probably benign Het
Eif2b2 A G 12: 85,219,834 D59G probably benign Het
Ero1l A T 14: 45,287,744 N441K probably damaging Het
Fam91a1 A G 15: 58,432,584 D383G probably damaging Het
Fbxl7 C A 15: 26,789,563 S26I probably damaging Het
Nav3 A G 10: 109,704,929 F1947L probably benign Het
Ncapd3 T A 9: 27,071,965 probably null Het
Numb G T 12: 83,842,277 H23N probably damaging Het
Olfr1419 G A 19: 11,871,223 probably benign Het
Olfr507 A G 7: 108,622,441 I210V probably benign Het
Ppp1r1b C T 11: 98,356,840 T111I probably damaging Het
Rad50 G A 11: 53,686,178 Q528* probably null Het
Scara3 A T 14: 65,930,963 S402T probably benign Het
Sept3 A G 15: 82,284,392 Y132C probably damaging Het
Sim2 C A 16: 94,123,482 N495K possibly damaging Het
Slc9b1 A G 3: 135,371,982 probably null Het
Tanc2 A G 11: 105,776,920 D109G probably benign Het
Traf1 T C 2: 34,943,893 I404V probably benign Het
Vmn2r68 C A 7: 85,222,117 V653L probably benign Het
Wdr93 A T 7: 79,776,652 Q555L probably benign Het
Other mutations in Il20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02297:Il20 APN 1 130908408 missense probably damaging 0.99
IGL02322:Il20 APN 1 130909576 missense probably damaging 1.00
R0627:Il20 UTSW 1 130909739 splice site probably benign
R0885:Il20 UTSW 1 130910781 missense probably benign 0.21
R1659:Il20 UTSW 1 130908349 splice site probably null
R2037:Il20 UTSW 1 130908378 missense probably damaging 0.99
R2199:Il20 UTSW 1 130910739 missense probably benign 0.01
R5632:Il20 UTSW 1 130907428 missense probably benign 0.19
R6039:Il20 UTSW 1 130910741 missense possibly damaging 0.65
R6039:Il20 UTSW 1 130910741 missense possibly damaging 0.65
R6155:Il20 UTSW 1 130910740 missense probably damaging 0.98
R6340:Il20 UTSW 1 130908381 missense probably benign 0.30
Z1177:Il20 UTSW 1 130911387 unclassified probably benign
Posted On2014-05-07