Incidental Mutation 'IGL03298:Tlr7'
ID416161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr7
Ensembl Gene ENSMUSG00000044583
Gene Nametoll-like receptor 7
SynonymsRP23-139P21.3
Accession Numbers
Stock #IGL03298
Quality Score
Status
ChromosomeX
Chromosomal Location167304929-167330558 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to A at 167306707 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 594 (K594N)
Predicted Effect probably benign
Transcript: ENSMUST00000060719
AA Change: K594N

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000061853
Gene: ENSMUSG00000044583
AA Change: K594N

DomainStartEndE-ValueType
LRRNT 35 69 5.03e-1 SMART
LRR 126 149 2.45e0 SMART
LRR 203 226 9.75e0 SMART
LRR_TYP 289 312 1.28e-3 SMART
LRR 313 337 2.08e1 SMART
LRR 396 419 9.22e0 SMART
LRR 497 516 1.09e2 SMART
LRR 542 565 4.97e0 SMART
LRR 596 619 2.76e2 SMART
LRR_TYP 650 673 1.72e-4 SMART
Pfam:LRR_7 676 692 7.2e-2 PFAM
LRR_TYP 699 722 1.58e-3 SMART
LRR 724 746 8.26e1 SMART
LRR 749 770 2.15e2 SMART
LRRCT 784 835 1.56e-3 SMART
transmembrane domain 851 873 N/A INTRINSIC
Pfam:TIR 894 1033 4.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112161
AA Change: K594N

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107787
Gene: ENSMUSG00000044583
AA Change: K594N

DomainStartEndE-ValueType
LRRNT 35 69 5.03e-1 SMART
LRR 126 149 2.45e0 SMART
LRR 203 226 9.75e0 SMART
LRR_TYP 289 312 1.28e-3 SMART
LRR 313 337 2.08e1 SMART
LRR 396 419 9.22e0 SMART
LRR 497 516 1.09e2 SMART
LRR 542 565 4.97e0 SMART
LRR 596 619 2.76e2 SMART
LRR_TYP 650 673 1.72e-4 SMART
Pfam:LRR_7 676 692 7.2e-2 PFAM
LRR_TYP 699 722 1.58e-3 SMART
LRR 724 746 8.26e1 SMART
LRR 749 770 2.15e2 SMART
LRRCT 784 835 1.56e-3 SMART
transmembrane domain 851 873 N/A INTRINSIC
Pfam:TIR 894 1033 4.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112164
AA Change: K594N

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107789
Gene: ENSMUSG00000044583
AA Change: K594N

DomainStartEndE-ValueType
LRRNT 35 69 5.03e-1 SMART
LRR 126 149 2.45e0 SMART
LRR 203 226 9.75e0 SMART
LRR_TYP 289 312 1.28e-3 SMART
LRR 313 337 2.08e1 SMART
LRR 396 419 9.22e0 SMART
LRR 497 516 1.09e2 SMART
LRR 542 565 4.97e0 SMART
LRR 596 619 2.76e2 SMART
LRR_TYP 650 673 1.72e-4 SMART
LRR_TYP 699 722 1.58e-3 SMART
LRR 724 746 8.26e1 SMART
LRR 749 770 2.15e2 SMART
LRRCT 784 835 1.56e-3 SMART
transmembrane domain 851 873 N/A INTRINSIC
Pfam:TIR 891 1049 1.7e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype The innate immune response to viral infection is affected in homozygous null mice. Mice homozygous or hemizygous for a point mutation produce little or no tumor necrosis factor (TNF) alpha in response to stimulation by a single stranded RNA analog.
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C A 14: 118,611,468 D566Y probably damaging Het
BC048546 T C 6: 128,543,960 T1344A probably benign Het
Casp2 C T 6: 42,268,990 noncoding transcript Het
Ccnb2 T C 9: 70,418,874 T63A probably benign Het
Cgrrf1 A G 14: 46,846,321 I187V probably benign Het
Clstn2 C T 9: 97,456,572 V845M probably damaging Het
Dmxl1 T C 18: 49,864,818 M691T probably benign Het
Dnhd1 T G 7: 105,714,475 I4081M probably damaging Het
H2-T3 T C 17: 36,189,428 Y125C probably damaging Het
Kif1a T A 1: 93,066,181 D349V probably damaging Het
L3mbtl3 T C 10: 26,282,798 T651A unknown Het
Megf10 C T 18: 57,283,838 Q760* probably null Het
Mroh7 T A 4: 106,714,091 K387* probably null Het
Olfr1276 A T 2: 111,257,534 M140L probably benign Het
Olfr847 A T 9: 19,375,062 V273E probably damaging Het
Ppp6r3 A T 19: 3,521,829 Y107N probably damaging Het
Reln T A 5: 21,910,836 Q3058L probably damaging Het
Ss18 T C 18: 14,679,427 M36V possibly damaging Het
Trim10 A G 17: 36,877,025 S378G possibly damaging Het
Zfp644 A G 5: 106,635,101 S1105P possibly damaging Het
Other mutations in Tlr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Tlr7 APN X 167308475 unclassified possibly damaging 0.94
IGL01064:Tlr7 APN X 167308211 unclassified probably damaging 1.00
IGL02940:Tlr7 APN X 167307834 unclassified probably benign 0.01
IGL03064:Tlr7 APN X 167306207 unclassified possibly damaging 0.89
rsq1 UTSW X 167308286 missense probably damaging 1.00
rsq2 UTSW X 167307945 missense probably damaging 0.98
rsq3 UTSW X 167307945 missense probably damaging 0.98
R1400:Tlr7 UTSW X 167307849 missense probably damaging 0.99
R1883:Tlr7 UTSW X 167306472 missense probably benign 0.35
R5929:Tlr7 UTSW X 167306882 missense probably damaging 1.00
Posted OnAug 02, 2016