Incidental Mutation 'IGL00091:Tslp'
ID 29383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tslp
Ensembl Gene ENSMUSG00000024379
Gene Name thymic stromal lymphopoietin
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00091
Quality Score
Status
Chromosome 18
Chromosomal Location 32948436-32952850 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 32948448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025237]
AlphaFold Q9JIE6
PDB Structure Cytokine receptor complex - Crystal form 1A [X-RAY DIFFRACTION]
Cytokine receptor complex - Crystal form 1B [X-RAY DIFFRACTION]
Cytokine receptor complex - Crystal form 2 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025237
SMART Domains Protein: ENSMUSP00000025237
Gene: ENSMUSG00000024379

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:TSLP 20 137 1.1e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181632
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a hemopoietic cytokine proposed to signal through a heterodimeric receptor complex composed of the thymic stromal lymphopoietin receptor and the IL-7R alpha chain. It mainly impacts myeloid cells and induces the release of T cell-attracting chemokines from monocytes and enhances the maturation of CD11c(+) dendritic cells. The protein promotes T helper type 2 (TH2) cell responses that are associated with immunity in various inflammatory diseases, including asthma, allergic inflammation and chronic obstructive pulmonary disease. The protein is therefore considered a potential therapeutic target for the treatment of such diseases. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to MC903-induced atopic dermatitis. Mice homozygous for another knock-out allele exhibit altered airway inflammation induced by LPS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,485,157 (GRCm39) Y400F probably benign Het
Adamts8 C A 9: 30,864,796 (GRCm39) T429K probably damaging Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Ano7 A T 1: 93,329,888 (GRCm39) H775L probably benign Het
Apoo-ps A T 13: 107,551,134 (GRCm39) noncoding transcript Het
Arid2 T C 15: 96,270,183 (GRCm39) V1432A probably benign Het
Atoh1 T C 6: 64,706,568 (GRCm39) S88P possibly damaging Het
C130050O18Rik A G 5: 139,400,601 (GRCm39) E218G probably damaging Het
Cacna2d1 T A 5: 16,417,942 (GRCm39) F155L probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cyp1a2 G T 9: 57,589,352 (GRCm39) S154* probably null Het
Cyp3a25 A T 5: 145,938,273 (GRCm39) Y68* probably null Het
Dmbt1 C A 7: 130,681,270 (GRCm39) probably benign Het
Dnajc22 T A 15: 98,999,059 (GRCm39) F81L possibly damaging Het
Eml5 G A 12: 98,839,468 (GRCm39) probably benign Het
Fpgs A T 2: 32,576,559 (GRCm39) probably benign Het
Gab2 T C 7: 96,951,650 (GRCm39) S537P possibly damaging Het
Gmds G A 13: 32,418,373 (GRCm39) S37L probably damaging Het
Ipo13 T C 4: 117,760,602 (GRCm39) E626G probably benign Het
Kcng1 T C 2: 168,110,684 (GRCm39) H160R probably benign Het
Lama3 A G 18: 12,713,349 (GRCm39) T1608A probably benign Het
Lama4 A C 10: 38,948,801 (GRCm39) S855R probably damaging Het
Ltbp1 C T 17: 75,532,333 (GRCm39) H454Y probably damaging Het
Map3k14 C A 11: 103,118,405 (GRCm39) G594C probably damaging Het
Mcph1 A G 8: 18,682,636 (GRCm39) N591S possibly damaging Het
Moxd1 G A 10: 24,155,762 (GRCm39) V289I probably damaging Het
Mptx2 T G 1: 173,102,455 (GRCm39) N78T probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Nup50 T A 15: 84,819,605 (GRCm39) F293Y probably benign Het
Ogn A G 13: 49,774,514 (GRCm39) Y219C probably damaging Het
Pdia3 T C 2: 121,244,659 (GRCm39) L47P probably damaging Het
Piwil4 A T 9: 14,614,393 (GRCm39) D786E probably damaging Het
Pspc1 A G 14: 57,009,168 (GRCm39) L222P probably damaging Het
Ptchd3 T A 11: 121,721,972 (GRCm39) Y282N probably damaging Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Serpini2 T C 3: 75,156,549 (GRCm39) Y327C probably damaging Het
Spire2 A G 8: 124,080,798 (GRCm39) D14G probably damaging Het
Stab2 A T 10: 86,705,070 (GRCm39) probably null Het
Timeless T C 10: 128,077,577 (GRCm39) L219P probably damaging Het
Tmem63a C T 1: 180,790,653 (GRCm39) T437M probably damaging Het
Ttbk2 C A 2: 120,579,314 (GRCm39) G534* probably null Het
Uggt1 T C 1: 36,218,633 (GRCm39) probably benign Het
Vmn2r118 T C 17: 55,899,708 (GRCm39) E732G probably damaging Het
Zfhx2 G A 14: 55,304,022 (GRCm39) P1321S possibly damaging Het
Zfp58 A G 13: 67,639,114 (GRCm39) V459A probably benign Het
Zfp831 T C 2: 174,487,451 (GRCm39) S709P possibly damaging Het
Other mutations in Tslp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03093:Tslp APN 18 32,948,612 (GRCm39) splice site probably benign
BB003:Tslp UTSW 18 32,950,246 (GRCm39) missense possibly damaging 0.80
BB013:Tslp UTSW 18 32,950,246 (GRCm39) missense possibly damaging 0.80
R2026:Tslp UTSW 18 32,948,725 (GRCm39) missense probably benign 0.06
R6315:Tslp UTSW 18 32,950,143 (GRCm39) missense probably benign 0.13
R7424:Tslp UTSW 18 32,952,133 (GRCm39) missense not run
R7926:Tslp UTSW 18 32,950,246 (GRCm39) missense possibly damaging 0.80
Posted On 2013-04-17