Incidental Mutation 'R3977:Il19'
ID 311052
Institutional Source Beutler Lab
Gene Symbol Il19
Ensembl Gene ENSMUSG00000016524
Gene Name interleukin 19
Synonyms
MMRRC Submission 040940-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R3977 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 130860393-130867852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130863770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 74 (C74S)
Ref Sequence ENSEMBL: ENSMUSP00000139406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016668] [ENSMUST00000112465] [ENSMUST00000187410] [ENSMUST00000187916]
AlphaFold Q8CJ70
Predicted Effect probably damaging
Transcript: ENSMUST00000016668
AA Change: C74S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000016668
Gene: ENSMUSG00000016524
AA Change: C74S

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112465
AA Change: C74S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108084
Gene: ENSMUSG00000016524
AA Change: C74S

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187410
AA Change: C74S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139406
Gene: ENSMUSG00000016524
AA Change: C74S

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187916
SMART Domains Protein: ENSMUSP00000141175
Gene: ENSMUSG00000016524

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 0.9377 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 96% (50/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace C T 11: 105,872,664 (GRCm39) P942L possibly damaging Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Bicral T A 17: 47,141,917 (GRCm39) M1L unknown Het
Brpf3 A G 17: 29,026,016 (GRCm39) E363G possibly damaging Het
Ccdc96 T C 5: 36,642,510 (GRCm39) L172P possibly damaging Het
Cln3 G A 7: 126,179,308 (GRCm39) probably benign Het
Dnah7c T C 1: 46,668,071 (GRCm39) I1526T possibly damaging Het
Entr1 T A 2: 26,274,805 (GRCm39) N364I probably damaging Het
Fmo3 T G 1: 162,786,147 (GRCm39) E281A probably damaging Het
Frem2 A G 3: 53,559,491 (GRCm39) I1672T probably benign Het
Gbp2b A G 3: 142,309,470 (GRCm39) I194V probably benign Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
Hk1 A G 10: 62,126,098 (GRCm39) V396A probably benign Het
Hoxc13 T C 15: 102,829,675 (GRCm39) V18A possibly damaging Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Krt1c T C 15: 101,719,562 (GRCm39) T703A unknown Het
Lrig2 A T 3: 104,365,160 (GRCm39) V664E probably damaging Het
Lrrc37a T C 11: 103,348,430 (GRCm39) K2755R unknown Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mbtd1 A G 11: 93,796,001 (GRCm39) N13D probably benign Het
Mfsd4b5 T C 10: 39,850,704 (GRCm39) probably benign Het
Nras A G 3: 102,967,541 (GRCm39) I46V probably benign Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Ogfod2 C A 5: 124,251,272 (GRCm39) probably null Het
Or10q3 C A 19: 11,847,869 (GRCm39) R237L possibly damaging Het
Or10v1 T A 19: 11,873,880 (GRCm39) F165Y probably damaging Het
Or11a4 T C 17: 37,536,049 (GRCm39) V11A probably benign Het
Or2w1b T A 13: 21,300,031 (GRCm39) H56Q probably benign Het
Or4c3 C A 2: 89,852,089 (GRCm39) G107V probably damaging Het
Or6c5 C T 10: 129,074,377 (GRCm39) R120C probably damaging Het
Pkmyt1 A G 17: 23,954,305 (GRCm39) M362V probably benign Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Ppp1r12b A G 1: 134,693,713 (GRCm39) S983P probably benign Het
Ptpn22 A G 3: 103,780,957 (GRCm39) probably benign Het
Raph1 A T 1: 60,537,682 (GRCm39) D491E probably benign Het
Rc3h1 A G 1: 160,786,969 (GRCm39) probably null Het
Rtn4 T C 11: 29,643,819 (GRCm39) L5P probably benign Het
Slc23a4 C T 6: 34,930,723 (GRCm39) V400I probably benign Het
Slco1a5 A G 6: 142,204,698 (GRCm39) probably benign Het
Smpd1 T C 7: 105,205,108 (GRCm39) F329S probably benign Het
Sycp2l A G 13: 41,295,440 (GRCm39) I334M probably damaging Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Ten1 G A 11: 116,107,771 (GRCm39) probably null Het
Tfap2d C G 1: 19,174,718 (GRCm39) S57C possibly damaging Het
Tnr A G 1: 159,719,593 (GRCm39) M957V probably benign Het
Trbv13-3 A G 6: 41,107,079 (GRCm39) probably benign Het
Trp53rkb C T 2: 166,637,446 (GRCm39) A134V possibly damaging Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r74 T C 7: 85,607,345 (GRCm39) Y126C probably benign Het
Vmn2r96 T A 17: 18,817,941 (GRCm39) I698N 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
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
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'- AAAGCCTGGGATCTTTCTGGG -3'
(R):5'- CCTTGTCTGTGATAGGATCCAAGC -3'

Sequencing Primer
(F):5'- ATCTTTCTGGGCAGATGGGAGC -3'
(R):5'- GTCTGTGATAGGATCCAAGCTTTAC -3'
Posted On 2015-04-29