Incidental Mutation 'IGL00556:Tlr7'
ID3073
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 #IGL00556
Quality Score
Status
ChromosomeX
Chromosomal Location167304929-167330558 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to C at 167308475 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 5 (M5R)
Ref Sequence ENSEMBL: ENSMUSP00000107789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060719] [ENSMUST00000112161] [ENSMUST00000112164] [ENSMUST00000137492] [ENSMUST00000145284]
Predicted Effect probably benign
Transcript: ENSMUST00000060719
AA Change: M5R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000061853
Gene: ENSMUSG00000044583
AA Change: M5R

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: M5R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000107787
Gene: ENSMUSG00000044583
AA Change: M5R

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: M5R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000107789
Gene: ENSMUSG00000044583
AA Change: M5R

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
Predicted Effect probably benign
Transcript: ENSMUST00000137492
AA Change: M8R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect possibly damaging
Transcript: ENSMUST00000145284
AA Change: M5R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,784,457 D356G probably benign Het
Abca12 T C 1: 71,353,757 I108V probably benign Het
Atad2 A G 15: 58,100,080 I1047T probably damaging Het
Cct4 T A 11: 22,997,656 V233E possibly damaging Het
Ces1a A G 8: 93,045,059 Y37H probably benign Het
Cgnl1 C T 9: 71,656,056 R863Q probably benign Het
Fam13b T C 18: 34,497,435 D90G probably damaging Het
Fhdc1 A T 3: 84,457,242 D232E possibly damaging Het
Gm6370 A G 5: 146,493,913 T303A probably benign Het
Gsdmc2 A G 15: 63,828,271 probably benign Het
Kif13b T A 14: 64,744,888 N516K probably damaging Het
Med1 A G 11: 98,155,684 S1429P unknown Het
Med4 T C 14: 73,517,267 M190T probably damaging Het
Myo15b T C 11: 115,891,916 V434A possibly damaging Het
Neb T C 2: 52,191,949 R1722G probably benign Het
Obp2b A T 2: 25,738,581 I116F probably damaging Het
Rims2 A G 15: 39,456,674 probably null Het
Siglecg A T 7: 43,411,795 I431F probably benign Het
Thap12 T A 7: 98,716,137 V504D possibly damaging Het
Tubgcp6 A G 15: 89,100,962 V1641A probably damaging Het
Ugt2b1 T A 5: 86,926,196 L101F probably benign Het
Xdh A T 17: 73,884,435 *1336R probably null Het
Other mutations in Tlr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03298:Tlr7 APN X 167306707 unclassified probably benign 0.45
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 OnApr 20, 2012