Incidental Mutation 'BB013:Tslp'
ID 642781
Institutional Source Beutler Lab
Gene Symbol Tslp
Ensembl Gene ENSMUSG00000024379
Gene Name thymic stromal lymphopoietin
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # BB013
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 32948436-32952850 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32950246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 105 (E105G)
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 possibly damaging
Transcript: ENSMUST00000025237
AA Change: E105G

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025237
Gene: ENSMUSG00000024379
AA Change: E105G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:TSLP 20 137 1.1e-49 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
BC016579 C A 16: 45,449,825 (GRCm39) D198Y probably damaging Het
Cep170 A G 1: 176,588,979 (GRCm39) S549P probably damaging Het
Cnih3 T C 1: 181,277,566 (GRCm39) L96P probably damaging Het
Cnn2 T A 10: 79,829,160 (GRCm39) L168Q probably damaging Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Cnot10 A G 9: 114,446,883 (GRCm39) C398R probably damaging Het
Dcaf4 C A 12: 83,580,703 (GRCm39) Y212* probably null Het
Dmxl2 T C 9: 54,335,326 (GRCm39) T665A probably benign Het
Dnmt1 C A 9: 20,818,855 (GRCm39) A1609S unknown Het
Dzip1 T C 14: 119,120,911 (GRCm39) D682G probably benign Het
Fam76a A G 4: 132,629,405 (GRCm39) L249P probably damaging Het
Fgf10 T C 13: 118,925,752 (GRCm39) M177T probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Itln1 G A 1: 171,359,261 (GRCm39) T73I probably benign Het
Jkamp T C 12: 72,141,590 (GRCm39) Y197H probably damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lcor T C 19: 41,571,008 (GRCm39) F67S probably benign Het
Lmf2 G A 15: 89,236,624 (GRCm39) P514L probably damaging Het
Lmntd2 G T 7: 140,790,258 (GRCm39) P610Q probably damaging Het
Map3k3 T C 11: 106,036,548 (GRCm39) S225P probably damaging Het
Mbd5 T C 2: 49,146,335 (GRCm39) Y182H probably damaging Het
Mki67 A G 7: 135,298,869 (GRCm39) V2055A possibly damaging Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myh8 C T 11: 67,169,732 (GRCm39) P17L possibly damaging Het
Myt1l T A 12: 29,861,651 (GRCm39) D144E unknown Het
Nfatc1 T C 18: 80,740,881 (GRCm39) Y373C probably damaging Het
Pacs2 C T 12: 113,024,372 (GRCm39) L418F probably damaging Het
Paxip1 A G 5: 27,996,207 (GRCm39) I24T unknown Het
Pdcl C T 2: 37,242,249 (GRCm39) G167E probably damaging Het
Pdcl A C 2: 37,242,251 (GRCm39) S166R probably damaging Het
Qsox1 C T 1: 155,688,533 (GRCm39) G5S unknown Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sass6 T A 3: 116,422,419 (GRCm39) S641T possibly damaging Het
Six1 T C 12: 73,090,583 (GRCm39) N194S probably benign Het
Tagap T C 17: 8,145,770 (GRCm39) probably null Het
Tiparp T C 3: 65,460,946 (GRCm39) V645A possibly damaging Het
Tm2d2 T C 8: 25,510,480 (GRCm39) V113A probably damaging Het
Tmprss6 C A 15: 78,337,050 (GRCm39) R352L probably benign Het
Ttc41 A G 10: 86,611,911 (GRCm39) E1093G probably benign Het
Ush2a G A 1: 188,460,797 (GRCm39) R2686H probably benign Het
Usp54 A T 14: 20,627,036 (GRCm39) Y541N probably damaging Het
Vmn2r125 A G 4: 156,702,988 (GRCm39) D122G probably damaging Het
Other mutations in Tslp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Tslp APN 18 32,948,448 (GRCm39) utr 5 prime probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GATACCAGACACCTTCCTGG -3'
(R):5'- AGGTTAGCTCGACTGACAACC -3'

Sequencing Primer
(F):5'- CATTCAATTTTTAATATCTGGCGGG -3'
(R):5'- ACCACAACCTGGCTCATTTG -3'
Posted On 2020-08-01