Incidental Mutation 'R6209:Il19'
ID 503301
Institutional Source Beutler Lab
Gene Symbol Il19
Ensembl Gene ENSMUSG00000016524
Gene Name interleukin 19
Synonyms
MMRRC Submission 044343-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R6209 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 130860393-130867852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130866852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 43 (E43K)
Ref Sequence ENSEMBL: ENSMUSP00000139406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016668] [ENSMUST00000112465] [ENSMUST00000187410] [ENSMUST00000187916]
AlphaFold Q8CJ70
Predicted Effect possibly damaging
Transcript: ENSMUST00000016668
AA Change: E43K

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000016668
Gene: ENSMUSG00000016524
AA Change: E43K

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112465
AA Change: E43K

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108084
Gene: ENSMUSG00000016524
AA Change: E43K

DomainStartEndE-ValueType
IL10 30 171 1.64e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000187410
AA Change: E43K

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139406
Gene: ENSMUSG00000016524
AA Change: E43K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 T A 1: 38,232,670 (GRCm39) M990L probably benign Het
Agl A T 3: 116,578,845 (GRCm39) Y429* probably null Het
Ahnak A T 19: 8,989,930 (GRCm39) K3738M probably damaging Het
Amn G T 12: 111,241,845 (GRCm39) V304L probably damaging Het
Ap3s1 G A 18: 46,912,318 (GRCm39) V113I probably benign Het
Arhgef28 A T 13: 98,065,917 (GRCm39) probably null Het
Atad2 A G 15: 57,981,811 (GRCm39) S18P probably damaging Het
Bhmt1b C T 18: 87,775,341 (GRCm39) A288V probably damaging Het
C4b T A 17: 34,960,061 (GRCm39) E305V possibly damaging Het
Caskin1 T C 17: 24,726,095 (GRCm39) S1401P possibly damaging Het
Cblc A T 7: 19,519,230 (GRCm39) V366D possibly damaging Het
Cdk17 A T 10: 93,044,093 (GRCm39) T11S probably benign Het
Cenpc1 A G 5: 86,181,509 (GRCm39) S619P probably benign Het
Clec4d T G 6: 123,247,488 (GRCm39) probably null Het
Disp2 T C 2: 118,617,402 (GRCm39) L132P probably damaging Het
Dync2h1 T C 9: 7,165,677 (GRCm39) K528R probably benign Het
Fbxw26 A G 9: 109,547,033 (GRCm39) I464T possibly damaging Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gabbr2 A G 4: 46,804,069 (GRCm39) V262A probably damaging Het
Galnt17 T A 5: 131,110,434 (GRCm39) M302L probably benign Het
Gpn3 T C 5: 122,520,175 (GRCm39) I243T probably benign Het
Gpr160 T C 3: 30,950,141 (GRCm39) V71A possibly damaging Het
Gramd1b G T 9: 40,244,946 (GRCm39) A154D probably damaging Het
Grid2ip G A 5: 143,366,184 (GRCm39) S379N probably damaging Het
H60b C A 10: 22,163,043 (GRCm39) T206N probably benign Het
Hydin A T 8: 111,320,434 (GRCm39) I4493F probably benign Het
Ints2 A G 11: 86,115,884 (GRCm39) Y782H probably damaging Het
Itprid1 T A 6: 55,851,306 (GRCm39) I62N probably damaging Het
Jph1 C A 1: 17,167,810 (GRCm39) D7Y probably damaging Het
Lipo2 T C 19: 33,726,852 (GRCm39) I62V probably damaging Het
Map7 G A 10: 20,152,026 (GRCm39) probably null Het
Matk T G 10: 81,095,422 (GRCm39) W81G probably damaging Het
Matn4 T C 2: 164,242,735 (GRCm39) Y121C probably damaging Het
Mical2 G A 7: 111,923,293 (GRCm39) probably null Het
Miga2 T G 2: 30,271,674 (GRCm39) Y399D probably damaging Het
Mocos A T 18: 24,799,672 (GRCm39) E302V probably benign Het
Mrpl11 C T 19: 5,014,743 (GRCm39) A172V probably damaging Het
Mrpl48 A C 7: 100,209,001 (GRCm39) Y108D probably damaging Het
Mtr A G 13: 12,205,278 (GRCm39) S1061P probably benign Het
Myh11 T A 16: 14,026,155 (GRCm39) K1309* probably null Het
Myom2 G A 8: 15,154,173 (GRCm39) V704I possibly damaging Het
Nars2 A G 7: 96,706,728 (GRCm39) H413R probably benign Het
Nckap1 A G 2: 80,355,946 (GRCm39) L619P probably damaging Het
Notch1 T C 2: 26,362,817 (GRCm39) N983S probably damaging Het
Nup210 A G 6: 91,002,337 (GRCm39) V717A probably benign Het
P4ha3 G T 7: 99,966,292 (GRCm39) G479V probably benign Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Phf11a A G 14: 59,525,028 (GRCm39) S59P probably damaging Het
Phyhip G A 14: 70,700,798 (GRCm39) S95N probably benign Het
Ppat A G 5: 77,065,993 (GRCm39) V375A probably benign Het
Prkdc A G 16: 15,608,456 (GRCm39) E3086G probably damaging Het
Psg22 A G 7: 18,453,599 (GRCm39) E98G probably damaging Het
Rabgap1 A T 2: 37,453,610 (GRCm39) K1013* probably null Het
Retreg3 C T 11: 101,010,526 (GRCm39) G27D probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sema6a A T 18: 47,431,369 (GRCm39) probably null Het
Septin10 T C 10: 59,006,670 (GRCm39) E349G probably damaging Het
Serpina1c A G 12: 103,863,429 (GRCm39) V257A probably damaging Het
Sgpp2 T A 1: 78,367,119 (GRCm39) M84K probably damaging Het
Shoc1 A G 4: 59,043,869 (GRCm39) *1482R probably null Het
Skint11 A G 4: 114,101,907 (GRCm39) S116G possibly damaging Het
Slc2a5 G A 4: 150,227,557 (GRCm39) V459I probably benign Het
Smarca2 T G 19: 26,748,404 (GRCm39) Y126* probably null Het
Stab2 T G 10: 86,758,867 (GRCm39) N1024H possibly damaging Het
Sting1 A T 18: 35,869,155 (GRCm39) I178N probably damaging Het
Svep1 A C 4: 58,128,869 (GRCm39) F609L probably benign Het
Tbc1d2 G A 4: 46,614,068 (GRCm39) T671I probably damaging Het
Thoc5 T C 11: 4,855,697 (GRCm39) I82T probably damaging Het
Tmem213 G T 6: 38,092,517 (GRCm39) C83F probably damaging Het
Topaz1 G A 9: 122,579,570 (GRCm39) D827N possibly damaging Het
Trappc10 C A 10: 78,050,646 (GRCm39) G265V possibly damaging Het
Ttn A G 2: 76,539,808 (GRCm39) S26066P probably damaging Het
Zfp292 G T 4: 34,809,442 (GRCm39) Q1201K probably benign Het
Zfp354a T A 11: 50,951,815 (GRCm39) probably null Het
Zfp418 T C 7: 7,185,096 (GRCm39) V353A possibly damaging Het
Zfp444 G A 7: 6,192,948 (GRCm39) probably benign Het
Zfp503 C A 14: 22,035,778 (GRCm39) Q379H probably damaging Het
Zfp804a A G 2: 82,088,462 (GRCm39) K764E 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
R6016:Il19 UTSW 1 130,863,718 (GRCm39) missense probably damaging 1.00
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'- CGATTCTTAGCACAAGAGACAC -3'
(R):5'- TCTCTGCAGTCTAGGTGGAC -3'

Sequencing Primer
(F):5'- CAAATGGTACCTTAATGCTCCTGAGG -3'
(R):5'- CTAGGTGGACAGCTGACTTTCAC -3'
Posted On 2018-02-27