Incidental Mutation 'R2064:Il19'
ID 228918
Institutional Source Beutler Lab
Gene Symbol Il19
Ensembl Gene ENSMUSG00000016524
Gene Name interleukin 19
Synonyms
MMRRC Submission 040069-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2064 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 130860393-130867852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130866854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 42 (H42R)
Ref Sequence ENSEMBL: ENSMUSP00000139406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016668] [ENSMUST00000112465] [ENSMUST00000187410] [ENSMUST00000187916]
AlphaFold Q8CJ70
Predicted Effect probably benign
Transcript: ENSMUST00000016668
AA Change: H42R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016668
Gene: ENSMUSG00000016524
AA Change: H42R

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112465
AA Change: H42R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108084
Gene: ENSMUSG00000016524
AA Change: H42R

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187410
AA Change: H42R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139406
Gene: ENSMUSG00000016524
AA Change: H42R

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 99% (114/115)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
9530002B09Rik T A 4: 122,583,115 (GRCm39) probably benign Het
Actr1b A G 1: 36,741,168 (GRCm39) F138L possibly damaging Het
Adamts14 G T 10: 61,041,301 (GRCm39) P803Q probably benign Het
Afap1l1 A T 18: 61,872,193 (GRCm39) probably null Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Aldh16a1 C T 7: 44,796,585 (GRCm39) probably null Het
Alg12 A G 15: 88,696,318 (GRCm39) W238R probably damaging Het
Amy2a1 T C 3: 113,324,217 (GRCm39) I108V probably benign Het
Arhgap23 T A 11: 97,383,888 (GRCm39) C1144S probably benign Het
Arhgef40 G A 14: 52,233,640 (GRCm39) V829M probably damaging Het
Atg7 C A 6: 114,680,324 (GRCm39) N344K probably damaging Het
Aunip T A 4: 134,250,618 (GRCm39) S188T probably benign Het
Bmpr1b A T 3: 141,576,568 (GRCm39) H88Q probably benign Het
Brpf3 G A 17: 29,040,338 (GRCm39) G920S probably benign Het
Cdc123 C T 2: 5,800,354 (GRCm39) probably benign Het
Cdhr1 T C 14: 36,817,062 (GRCm39) R100G probably benign Het
Cdkn2d A G 9: 21,202,175 (GRCm39) V24A probably damaging Het
Cirbp T C 10: 80,006,166 (GRCm39) probably benign Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Col12a1 A G 9: 79,569,736 (GRCm39) probably benign Het
Cplane1 T A 15: 8,215,649 (GRCm39) S402T probably damaging Het
Cpox T A 16: 58,494,772 (GRCm39) C270S probably benign Het
Cspg4 A G 9: 56,803,940 (GRCm39) D1677G probably damaging Het
Cyp4a10 T A 4: 115,381,917 (GRCm39) probably benign Het
Dctn4 T C 18: 60,671,349 (GRCm39) F74L possibly damaging Het
Dennd5a G A 7: 109,497,900 (GRCm39) probably benign Het
Dnaaf3 T C 7: 4,526,798 (GRCm39) I426M possibly damaging Het
Dnah9 C T 11: 66,036,261 (GRCm39) S185N probably benign Het
Dqx1 T G 6: 83,035,524 (GRCm39) probably benign Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Ep400 A C 5: 110,883,270 (GRCm39) probably benign Het
Epha1 G T 6: 42,342,987 (GRCm39) H187Q probably benign Het
Exoc2 T C 13: 31,119,544 (GRCm39) D119G probably benign Het
Fbn2 C T 18: 58,181,921 (GRCm39) E1827K probably damaging Het
Fbxo41 C T 6: 85,455,453 (GRCm39) W577* probably null Het
Fgd6 G A 10: 93,880,903 (GRCm39) A586T probably damaging Het
Gm12695 T C 4: 96,657,963 (GRCm39) T69A probably benign Het
Gm12888 A T 4: 121,182,069 (GRCm39) W8R unknown Het
Gm2959 A G 14: 42,235,658 (GRCm39) noncoding transcript Het
Gm6214 A G 3: 140,544,978 (GRCm39) noncoding transcript Het
Gm9912 T C 3: 148,890,795 (GRCm39) T113A unknown Het
Gmeb2 A G 2: 180,895,763 (GRCm39) L469P probably benign Het
Gosr1 T C 11: 76,628,224 (GRCm39) I177V probably benign Het
Gria1 T C 11: 57,208,534 (GRCm39) F810L probably damaging Het
Gtf2ird2 C T 5: 134,245,340 (GRCm39) Q533* probably null Het
Hadhb T A 5: 30,378,796 (GRCm39) probably null Het
Hat1 A T 2: 71,240,504 (GRCm39) Y66F possibly damaging Het
Hk1 T C 10: 62,122,315 (GRCm39) Y488C probably benign Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Ifnb1 T A 4: 88,440,996 (GRCm39) I6F possibly damaging Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Impg2 G A 16: 56,063,993 (GRCm39) probably null Het
Invs T A 4: 48,396,287 (GRCm39) L320Q probably damaging Het
Itga9 T C 9: 118,636,361 (GRCm39) F683S probably damaging Het
Itih2 A G 2: 10,135,385 (GRCm39) S2P possibly damaging Het
Itpr3 G A 17: 27,317,050 (GRCm39) M768I probably benign Het
Kcnab1 A G 3: 65,272,060 (GRCm39) E315G probably benign Het
Kcnmb2 A C 3: 32,252,437 (GRCm39) I213L probably damaging Het
Khdc1a T A 1: 21,421,196 (GRCm39) M127K probably benign Het
Klhl28 T C 12: 64,990,246 (GRCm39) N565S probably benign Het
Lcp1 A G 14: 75,435,515 (GRCm39) probably null Het
Mcm4 T C 16: 15,452,333 (GRCm39) T267A possibly damaging Het
Mlxipl A T 5: 135,161,631 (GRCm39) T517S possibly damaging Het
Mpp3 T A 11: 101,891,516 (GRCm39) I541L probably benign Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Myh15 G A 16: 48,975,984 (GRCm39) A1351T possibly damaging Het
Nacc1 A T 8: 85,399,747 (GRCm39) M490K probably benign Het
Nbeal1 C A 1: 60,309,515 (GRCm39) Q496K possibly damaging Het
Oas1g T C 5: 121,023,946 (GRCm39) E121G probably damaging Het
Or14j1 T A 17: 38,145,893 (GRCm39) M1K probably null Het
Pard3 T C 8: 128,337,092 (GRCm39) L1236P probably damaging Het
Phc2 T C 4: 128,640,929 (GRCm39) F672S probably damaging Het
Phf21a C A 2: 92,157,422 (GRCm39) N183K possibly damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Prl3c1 G A 13: 27,380,720 (GRCm39) probably null Het
Prl7a2 T A 13: 27,844,870 (GRCm39) Y172F probably damaging Het
Psg16 T G 7: 16,827,673 (GRCm39) S210A possibly damaging Het
Psg25 T A 7: 18,255,178 (GRCm39) K446M probably damaging Het
Ptprz1 A G 6: 23,050,388 (GRCm39) probably benign Het
Rgs7 A T 1: 174,949,508 (GRCm39) F160L probably damaging Het
Rpl22l1 A T 3: 28,860,957 (GRCm39) E57D possibly damaging Het
Rpl35 A G 2: 38,894,753 (GRCm39) L44P possibly damaging Het
Rtn4r T C 16: 17,969,121 (GRCm39) L183P probably damaging Het
Skint1 T A 4: 111,882,730 (GRCm39) V258D probably benign Het
Slc4a7 G A 14: 14,733,773 (GRCm38) R67H probably damaging Het
Smg1 C T 7: 117,756,090 (GRCm39) probably benign Het
Smurf2 T C 11: 106,762,374 (GRCm39) T39A probably damaging Het
Sspo A T 6: 48,450,596 (GRCm39) D2595V probably damaging Het
Tatdn2 A G 6: 113,681,103 (GRCm39) K379E probably benign Het
Tbc1d14 G A 5: 36,680,274 (GRCm39) R68* probably null Het
Tgm1 A G 14: 55,946,928 (GRCm39) I360T probably damaging Het
Thrap3 T C 4: 126,069,189 (GRCm39) Y654C possibly damaging Het
Traf1 A T 2: 34,838,202 (GRCm39) I212N probably benign Het
Ttc17 C A 2: 94,196,892 (GRCm39) W485L probably damaging Het
Ttn C A 2: 76,768,675 (GRCm39) V2920F probably damaging Het
Tyr T C 7: 87,142,051 (GRCm39) I93V probably benign Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Vmn1r212 A G 13: 23,068,285 (GRCm39) V16A probably benign Het
Vmn1r55 A G 7: 5,150,048 (GRCm39) V125A possibly damaging Het
Vmn2r120 T A 17: 57,831,553 (GRCm39) H412L possibly damaging Het
Xirp1 T C 9: 119,845,962 (GRCm39) I974V probably benign Het
Zap70 A G 1: 36,818,215 (GRCm39) T301A probably benign Het
Zfhx4 A G 3: 5,463,987 (GRCm39) K1382E probably damaging Het
Zfp280b T A 10: 75,875,017 (GRCm39) C299S probably damaging Het
Zfp352 C T 4: 90,113,357 (GRCm39) S499L probably benign Het
Zfp423 G A 8: 88,507,986 (GRCm39) A661V probably benign Het
Zfp57 T A 17: 37,320,568 (GRCm39) F141I possibly damaging Het
Zfp946 A T 17: 22,674,446 (GRCm39) H400L probably damaging Het
Zgrf1 T C 3: 127,406,999 (GRCm39) C1589R 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
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
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'- AATGCTCCTGAGGTTCTCCAG -3'
(R):5'- TCTCCTTGTTTTGCCAGAGAATTAG -3'

Sequencing Primer
(F):5'- TTCTCCAGGGACAGGATGG -3'
(R):5'- GAAAATCAATCTCTGCAGTCTAGGTG -3'
Posted On 2014-09-17