Incidental Mutation 'IGL02044:Tlr13'
ID 184868
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr13
Ensembl Gene ENSMUSG00000033777
Gene Name toll-like receptor 13
Synonyms LOC279572
Accession Numbers
Essential gene? Not available question?
Stock # IGL02044
Quality Score
Status
Chromosome X
Chromosomal Location 105186881-105204099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105200703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 147 (F147L)
Ref Sequence ENSEMBL: ENSMUSP00000043101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040065]
AlphaFold Q6R5N8
Predicted Effect probably damaging
Transcript: ENSMUST00000040065
AA Change: F147L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043101
Gene: ENSMUSG00000033777
AA Change: F147L

DomainStartEndE-ValueType
LRR 106 125 5.12e1 SMART
LRR_TYP 126 149 8.81e-2 SMART
LRR 150 172 1.45e1 SMART
LRR_TYP 173 196 5.67e-5 SMART
LRR 197 219 1.49e1 SMART
LRR 223 245 3.76e1 SMART
LRR 246 269 1.33e1 SMART
LRR 395 418 4.7e0 SMART
LRR_TYP 419 442 8.47e-4 SMART
LRR 443 466 1.16e-1 SMART
LRR 467 490 6.06e1 SMART
LRR_TYP 491 514 2.09e-3 SMART
LRR_TYP 515 538 3.39e-3 SMART
LRR_TYP 539 562 6.23e-2 SMART
LRR 563 586 1.97e2 SMART
LRR 592 617 3.36e2 SMART
LRR_TYP 670 693 3.58e-2 SMART
LRR 694 717 8.26e1 SMART
TIR 833 978 1.8e-29 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Macrophages isolated from mice carrying an ENU-induced mutation respond normally to known TLR ligands and can contain various viral infections; however, mice carrying this allele have not been tested for immune responses in vivo. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 T C 7: 139,562,735 (GRCm39) D772G possibly damaging Het
Atp6v0a2 T A 5: 124,783,954 (GRCm39) N267K probably benign Het
Cx3cl1 T A 8: 95,507,168 (GRCm39) V391D probably damaging Het
Dscaml1 C T 9: 45,658,241 (GRCm39) R1671* probably null Het
Dzip3 A T 16: 48,768,790 (GRCm39) S443T possibly damaging Het
Hrh2 A T 13: 54,368,965 (GRCm39) T314S probably benign Het
Ifi206 C T 1: 173,308,557 (GRCm39) V480M probably benign Het
Krt84 A G 15: 101,436,931 (GRCm39) Y368H probably damaging Het
Lama1 T C 17: 68,118,485 (GRCm39) S2566P probably benign Het
Lyst T A 13: 13,887,431 (GRCm39) F3087I probably damaging Het
Map3k19 A T 1: 127,751,242 (GRCm39) L703H probably damaging Het
Or8c9 A G 9: 38,241,461 (GRCm39) S193G probably benign Het
Or8g50 C T 9: 39,648,270 (GRCm39) S53L possibly damaging Het
Pard6a A G 8: 106,429,651 (GRCm39) D203G probably damaging Het
Pate7 T C 9: 35,687,959 (GRCm39) K94E probably benign Het
Pde8a T C 7: 80,967,197 (GRCm39) probably null Het
Pdia6 C A 12: 17,333,227 (GRCm39) T400K probably damaging Het
Pdzd8 A T 19: 59,303,724 (GRCm39) V354D possibly damaging Het
Sec13 A G 6: 113,713,381 (GRCm39) I39T probably damaging Het
Smyd3 C T 1: 178,799,844 (GRCm39) S365N probably benign Het
Sorcs1 A G 19: 50,276,597 (GRCm39) probably benign Het
Tjp2 T G 19: 24,098,204 (GRCm39) Y486S probably damaging Het
Ulk2 T A 11: 61,672,465 (GRCm39) N958Y probably damaging Het
Unk T A 11: 115,940,154 (GRCm39) M169K probably damaging Het
Wdr27 T C 17: 15,122,031 (GRCm39) Y625C possibly damaging Het
Other mutations in Tlr13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02644:Tlr13 APN X 105,200,503 (GRCm39) missense probably benign 0.12
IGL02809:Tlr13 APN X 105,200,297 (GRCm39) splice site probably benign
Tlr13rev1 UTSW X 105,200,983 (GRCm39) missense probably benign
X0024:Tlr13 UTSW X 105,200,334 (GRCm39) missense probably benign
X0028:Tlr13 UTSW X 105,200,928 (GRCm39) missense probably benign 0.04
X0067:Tlr13 UTSW X 105,200,839 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07