Incidental Mutation 'R6016:Il19'
ID 478585
Institutional Source Beutler Lab
Gene Symbol Il19
Ensembl Gene ENSMUSG00000016524
Gene Name interleukin 19
Synonyms
MMRRC Submission 043255-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R6016 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 130860393-130867852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130863718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 16 (D16V)
Ref Sequence ENSEMBL: ENSMUSP00000141175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016668] [ENSMUST00000112465] [ENSMUST00000187410] [ENSMUST00000187916]
AlphaFold Q8CJ70
Predicted Effect probably damaging
Transcript: ENSMUST00000016668
AA Change: D91V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016668
Gene: ENSMUSG00000016524
AA Change: D91V

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112465
AA Change: D91V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108084
Gene: ENSMUSG00000016524
AA Change: D91V

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187410
AA Change: D91V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139406
Gene: ENSMUSG00000016524
AA Change: D91V

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187916
AA Change: D16V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141175
Gene: ENSMUSG00000016524
AA Change: D16V

DomainStartEndE-ValueType
SCOP:d1lqsl_ 1 91 8e-26 SMART
PDB:1N1F|A 1 95 6e-45 PDB
Blast:IL10 1 96 5e-65 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9b T C 15: 77,620,058 (GRCm39) S285P probably damaging Het
Casz1 C A 4: 149,019,041 (GRCm39) N447K probably damaging Het
Cltb T C 13: 54,754,480 (GRCm39) T71A possibly damaging Het
Dcaf12 A G 4: 41,313,267 (GRCm39) F93L probably damaging Het
Dnah5 T C 15: 28,328,030 (GRCm39) Y2135H probably damaging Het
Entpd2 C T 2: 25,288,568 (GRCm39) R191W probably damaging Het
Gm17067 G T 7: 42,357,654 (GRCm39) P283T probably benign Het
Gm3250 A G 10: 77,618,367 (GRCm39) probably benign Het
Gne T C 4: 44,039,063 (GRCm39) E532G probably damaging Het
Gsdmc3 T G 15: 63,740,261 (GRCm39) D86A probably benign Het
Hs3st2 A G 7: 121,099,922 (GRCm39) H256R probably damaging Het
Lats2 A T 14: 57,971,632 (GRCm39) N14K probably damaging Het
Mill2 G T 7: 18,590,373 (GRCm39) S151I probably benign Het
Ncapg2 G A 12: 116,390,227 (GRCm39) R392H probably damaging Het
Nop56 T C 2: 130,118,545 (GRCm39) probably null Het
Or14j8 A T 17: 38,262,967 (GRCm39) V316D probably benign Het
Or2bd2 A T 7: 6,443,613 (GRCm39) H238L probably benign Het
Or5p5 A T 7: 107,414,219 (GRCm39) I143F probably benign Het
Pde1a T C 2: 79,695,406 (GRCm39) R446G probably benign Het
Pes1 T A 11: 3,928,004 (GRCm39) M552K possibly damaging Het
Plxnb2 T A 15: 89,045,225 (GRCm39) T1074S possibly damaging Het
Psg23 G T 7: 18,346,112 (GRCm39) H194Q probably benign Het
Rprd2 A G 3: 95,694,685 (GRCm39) V116A probably damaging Het
Shkbp1 A G 7: 27,053,826 (GRCm39) V124A possibly damaging Het
Slc38a8 A T 8: 120,221,044 (GRCm39) probably null Het
Slitrk6 A G 14: 110,987,958 (GRCm39) V583A probably benign Het
Sptbn5 G T 2: 119,880,573 (GRCm39) noncoding transcript Het
Stab1 A T 14: 30,880,950 (GRCm39) I614N probably damaging Het
Tgm6 A G 2: 129,983,148 (GRCm39) T246A probably damaging Het
Tnks1bp1 T C 2: 84,882,734 (GRCm39) L187P probably damaging Het
Vmn1r157 A G 7: 22,461,272 (GRCm39) R51G possibly damaging Het
Vmn2r68 A T 7: 84,871,453 (GRCm39) I610K probably damaging 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
R4290:Il19 UTSW 1 130,862,750 (GRCm39) missense possibly damaging 0.80
R4857:Il19 UTSW 1 130,863,683 (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'- CAGGAAGTGAATGACAATGTCCTG -3'
(R):5'- ATATATCTCCTGGCTGCAGTGG -3'

Sequencing Primer
(F):5'- GTGAATGACAATGTCCTGACTCTGC -3'
(R):5'- CCATGGGAAGTGTGAAAGAATACCC -3'
Posted On 2017-06-26