Incidental Mutation 'IGL01664:Il10'
ID 103263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il10
Ensembl Gene ENSMUSG00000016529
Gene Name interleukin 10
Synonyms cytokine synthesis inhibitory factor, IL-10
Accession Numbers
Essential gene? Possibly essential (E-score: 0.748) question?
Stock # IGL01664
Quality Score
Status
Chromosome 1
Chromosomal Location 130947582-130952711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 130949214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 125 (R125L)
Ref Sequence ENSEMBL: ENSMUSP00000016673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016673]
AlphaFold P18893
PDB Structure X-ray structure of mouse interleukin-10 mutant - S1_E8del, C149Y [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016673
AA Change: R125L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000016673
Gene: ENSMUSG00000016529
AA Change: R125L

DomainStartEndE-ValueType
low complexity region 6 13 N/A INTRINSIC
IL10 37 173 1.05e-103 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an anti-inflammatory cytokine that is a member of the class-2 cytokine family. The encoded protein is secreted by cells of both the innate and adaptive immune systems and is crucial for limiting the immune response to a broad range of pathogens. It also has been shown to suppress autoimmune responses. This protein mediates it's immunosuppressive signal through a specific interleukin 10 receptor complex. Aberrant functioning of this gene is associated with numerous immune disorders including graft-versus-host disease, and increased susceptibility to HIV-1 infection and rheumatoid arthritis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded growth, anemia, chronic enterocolitis, a high incidence of colorectal adenocarcinomas, and altered responses to various infectious organisms such as Mycobacterium bovis and Leishmania donovani. [provided by MGI curators]
Allele List at MGI

All alleles(14) : Targeted(14) 
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Col19a1 T A 1: 24,600,416 (GRCm39) Y42F unknown Het
Ddx31 T C 2: 28,765,847 (GRCm39) probably benign Het
Fbln2 G A 6: 91,210,439 (GRCm39) D128N probably damaging Het
Fgf7 G T 2: 125,877,907 (GRCm39) M91I probably benign Het
Gm28539 A G 16: 18,655,523 (GRCm39) H31R possibly damaging Het
Hivep1 T G 13: 42,312,755 (GRCm39) V1665G probably benign Het
Ifih1 T C 2: 62,442,044 (GRCm39) probably benign Het
Kalrn C T 16: 34,114,531 (GRCm39) R574H probably damaging Het
Lmln A G 16: 32,901,357 (GRCm39) E251G probably benign Het
Or4e5 T C 14: 52,728,002 (GRCm39) N57D probably benign Het
Or52n2c T C 7: 104,574,311 (GRCm39) Y220C probably damaging Het
Or56a3b T A 7: 104,771,423 (GRCm39) L253Q probably damaging Het
Otol1 A G 3: 69,935,130 (GRCm39) D374G probably benign Het
Pcdhb15 T C 18: 37,607,314 (GRCm39) V182A probably benign Het
Polr3e T C 7: 120,530,540 (GRCm39) probably benign Het
Sectm1a A T 11: 120,959,870 (GRCm39) S149T possibly damaging Het
Slfn10-ps A G 11: 82,926,761 (GRCm39) noncoding transcript Het
Sox1ot A G 8: 12,480,670 (GRCm39) noncoding transcript Het
Tnik G T 3: 28,692,628 (GRCm39) G895C probably damaging Het
Other mutations in Il10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01663:Il10 APN 1 130,949,151 (GRCm39) missense probably benign 0.00
R0139:Il10 UTSW 1 130,950,271 (GRCm39) missense probably damaging 0.98
R1244:Il10 UTSW 1 130,951,953 (GRCm39) missense probably damaging 0.99
R1471:Il10 UTSW 1 130,949,110 (GRCm39) nonsense probably null
R2034:Il10 UTSW 1 130,951,922 (GRCm39) missense probably benign
R2063:Il10 UTSW 1 130,947,770 (GRCm39) missense probably damaging 1.00
R5624:Il10 UTSW 1 130,951,940 (GRCm39) missense probably benign 0.32
R7650:Il10 UTSW 1 130,949,192 (GRCm39) missense probably benign 0.13
R7840:Il10 UTSW 1 130,947,805 (GRCm39) missense probably benign
R8280:Il10 UTSW 1 130,947,749 (GRCm39) missense possibly damaging 0.91
Z1177:Il10 UTSW 1 130,949,132 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21