Incidental Mutation 'IGL01664:Il10'
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ID103263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il10
Ensembl Gene ENSMUSG00000016529
Gene Nameinterleukin 10
SynonymsIL-10, cytokine synthesis inhibitory factor
Accession Numbers

Ncbi RefSeq: NM_010548.2; MGI:96537

Is this an essential gene? Probably essential (E-score: 0.833) question?
Stock #IGL01664
Quality Score
Status
Chromosome1
Chromosomal Location131019845-131024974 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 131021477 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 125 (R125L)
Ref Sequence ENSEMBL: ENSMUSP00000016673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016673]
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 Strain: 1857199; 3521569
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: 24,561,335 Y42F unknown Het
Ddx31 T C 2: 28,875,835 probably benign Het
Fbln2 G A 6: 91,233,457 D128N probably damaging Het
Fgf7 G T 2: 126,035,987 M91I probably benign Het
Gm28539 A G 16: 18,836,773 H31R possibly damaging Het
Hivep1 T G 13: 42,159,279 V1665G probably benign Het
Ifih1 T C 2: 62,611,700 probably benign Het
Kalrn C T 16: 34,294,161 R574H probably damaging Het
Lmln A G 16: 33,080,987 E251G probably benign Het
Olfr1507 T C 14: 52,490,545 N57D probably benign Het
Olfr668 T C 7: 104,925,104 Y220C probably damaging Het
Olfr681 T A 7: 105,122,216 L253Q probably damaging Het
Otol1 A G 3: 70,027,797 D374G probably benign Het
Pcdhb15 T C 18: 37,474,261 V182A probably benign Het
Polr3e T C 7: 120,931,317 probably benign Het
Sectm1a A T 11: 121,069,044 S149T possibly damaging Het
Slfn10-ps A G 11: 83,035,935 noncoding transcript Het
Sox1ot A G 8: 12,430,670 noncoding transcript Het
Tnik G T 3: 28,638,479 G895C probably damaging Het
Other mutations in Il10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01663:Il10 APN 1 131021414 missense probably benign 0.00
R0139:Il10 UTSW 1 131022534 missense probably damaging 0.98
R1244:Il10 UTSW 1 131024216 missense probably damaging 0.99
R1471:Il10 UTSW 1 131021373 nonsense probably null
R2034:Il10 UTSW 1 131024185 missense probably benign
R2063:Il10 UTSW 1 131020033 missense probably damaging 1.00
R5624:Il10 UTSW 1 131024203 missense probably benign 0.32
R7650:Il10 UTSW 1 131021455 missense probably benign 0.13
R7840:Il10 UTSW 1 131020068 missense probably benign
R8280:Il10 UTSW 1 131020012 missense possibly damaging 0.91
Z1177:Il10 UTSW 1 131021395 missense probably damaging 1.00
Posted On2014-01-21