Incidental Mutation 'R4290:Il19'
ID 322978
Institutional Source Beutler Lab
Gene Symbol Il19
Ensembl Gene ENSMUSG00000016524
Gene Name interleukin 19
Synonyms
MMRRC Submission 041655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R4290 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 130860393-130867852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130862750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 58 (T58S)
Ref Sequence ENSEMBL: ENSMUSP00000141175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016668] [ENSMUST00000112465] [ENSMUST00000187410] [ENSMUST00000187916]
AlphaFold Q8CJ70
Predicted Effect possibly damaging
Transcript: ENSMUST00000016668
AA Change: T133S

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000016668
Gene: ENSMUSG00000016524
AA Change: T133S

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112465
AA Change: T133S

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108084
Gene: ENSMUSG00000016524
AA Change: T133S

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000187410
AA Change: T133S

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139406
Gene: ENSMUSG00000016524
AA Change: T133S

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000187916
AA Change: T58S

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141175
Gene: ENSMUSG00000016524
AA Change: T58S

DomainStartEndE-ValueType
SCOP:d1lqsl_ 1 91 8e-26 SMART
PDB:1N1F|A 1 95 6e-45 PDB
Blast:IL10 1 96 5e-65 BLAST
Meta Mutation Damage Score 0.1025 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (73/73)
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 belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit interleukin-23 (IL-23)-dependent epidermal hyperplasia. Mice homozygous for a different knock-out allele exhibit increased susceptibility to induced colitis with reduced B cell infiltration in chronic colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,539,738 (GRCm39) N1545S probably benign Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Arid3b A T 9: 57,697,713 (GRCm39) probably benign Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Atpaf1 A T 4: 115,645,556 (GRCm39) M142L probably benign Het
Auts2 A G 5: 131,503,809 (GRCm39) S225P probably damaging Het
Bclaf1 A G 10: 20,199,524 (GRCm39) Q20R probably damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cfap221 A G 1: 119,858,650 (GRCm39) S728P probably benign Het
Chrna9 A G 5: 66,134,481 (GRCm39) K444R probably benign Het
Cox10 A T 11: 63,855,081 (GRCm39) V400E probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Ddr2 A G 1: 169,818,178 (GRCm39) V443A probably benign Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
En1 C A 1: 120,531,486 (GRCm39) A242E unknown Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hddc2 A T 10: 31,190,583 (GRCm39) M48L possibly damaging Het
Hepacam2 T A 6: 3,487,237 (GRCm39) Y40F probably benign Het
Ift80 A G 3: 68,871,023 (GRCm39) I191T probably damaging Het
Itga2 G A 13: 115,002,709 (GRCm39) R594C probably damaging Het
Itga5 C T 15: 103,260,684 (GRCm39) probably null Het
Kcna1 T C 6: 126,618,838 (GRCm39) D494G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kmt2b A T 7: 30,281,261 (GRCm39) probably null Het
Kmt5b T C 19: 3,852,193 (GRCm39) Y125H possibly damaging Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Man1c1 T A 4: 134,291,096 (GRCm39) D600V probably damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mettl5 T C 2: 69,711,176 (GRCm39) N114S probably benign Het
Mindy2 T A 9: 70,538,376 (GRCm39) R320W probably damaging Het
Nrip1 A G 16: 76,088,876 (GRCm39) S894P probably benign Het
Nup210l A T 3: 90,114,633 (GRCm39) H1736L probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2aj4 A T 16: 19,384,994 (GRCm39) M213K possibly damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or2z9 A G 8: 72,853,612 (GRCm39) T3A probably benign Het
Or4e1 T C 14: 52,701,442 (GRCm39) N8S probably damaging Het
Or6b6 A C 7: 106,570,918 (GRCm39) L211R probably damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Ppp4c A G 7: 126,391,231 (GRCm39) probably null Het
Rps15a-ps1 A G 10: 106,028,496 (GRCm39) noncoding transcript Het
Rps27a A G 11: 29,495,933 (GRCm39) Y140H probably benign Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Ttc19 A G 11: 62,176,753 (GRCm39) probably null Het
Ttf2 T C 3: 100,870,077 (GRCm39) D332G probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vcan A G 13: 89,873,605 (GRCm39) V83A probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Xndc1 T A 7: 101,730,694 (GRCm39) L288M possibly damaging Het
Zfa-ps A T 10: 52,419,807 (GRCm39) noncoding transcript Het
Other mutations in Il19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Il19 APN 1 130,862,792 (GRCm39) splice site probably benign
R1969:Il19 UTSW 1 130,866,893 (GRCm39) missense probably damaging 1.00
R2064:Il19 UTSW 1 130,866,854 (GRCm39) missense probably benign
R2851:Il19 UTSW 1 130,863,694 (GRCm39) missense possibly damaging 0.73
R3977:Il19 UTSW 1 130,863,770 (GRCm39) missense probably damaging 1.00
R4857:Il19 UTSW 1 130,863,683 (GRCm39) missense probably damaging 1.00
R6016:Il19 UTSW 1 130,863,718 (GRCm39) missense probably damaging 1.00
R6209:Il19 UTSW 1 130,866,852 (GRCm39) missense possibly damaging 0.68
R7113:Il19 UTSW 1 130,862,732 (GRCm39) missense probably benign 0.14
R8374:Il19 UTSW 1 130,866,893 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAACTTGGATGAGCTTGCCATG -3'
(R):5'- AGACACGGTACTCGCTCTTC -3'

Sequencing Primer
(F):5'- TGAGCTTGCCATGAAGACC -3'
(R):5'- GAGGTCAAATGCAGAGCTTCTCC -3'
Posted On 2015-06-20