Incidental Mutation 'IGL02940:Tlr7'
ID364479
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 #IGL02940
Quality Score
Status
ChromosomeX
Chromosomal Location167304929-167330558 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 167307834 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 219 (V219I)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060719] [ENSMUST00000112161] [ENSMUST00000112164]
Predicted Effect probably benign
Transcript: ENSMUST00000060719
AA Change: V219I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000061853
Gene: ENSMUSG00000044583
AA Change: V219I

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: V219I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000107787
Gene: ENSMUSG00000044583
AA Change: V219I

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: V219I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000107789
Gene: ENSMUSG00000044583
AA Change: V219I

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 T A 8: 95,033,456 V101D possibly damaging Het
Brca1 T C 11: 101,489,912 D1765G probably benign Het
Cadps2 T C 6: 23,496,809 K450R probably benign Het
Cc2d2a A T 5: 43,728,294 probably null Het
Dbh A G 2: 27,168,309 Y163C probably damaging Het
Drc7 T A 8: 95,074,297 I649N probably damaging Het
Dst G A 1: 34,289,587 A7097T probably benign Het
Fbxo46 A G 7: 19,135,612 H52R probably benign Het
Gm10451 A C 12: 76,451,170 N57T unknown Het
Gm9944 T C 4: 144,453,139 N60S unknown Het
Lsm14a G T 7: 34,371,171 S100* probably null Het
Mrc2 C T 11: 105,341,171 R850C probably damaging Het
Musk A G 4: 58,373,364 D778G probably damaging Het
Ncan C T 8: 70,110,085 V508I probably benign Het
Olfr1277 A T 2: 111,269,728 L213Q probably damaging Het
Pgls C T 8: 71,594,097 S18L probably damaging Het
Phf20l1 A G 15: 66,595,151 T98A probably damaging Het
Prdm13 T A 4: 21,683,421 K180* probably null Het
Rai1 T C 11: 60,187,018 V636A probably benign Het
Setd5 T C 6: 113,114,938 F240S possibly damaging Het
Slco1a5 A G 6: 142,242,005 L536P probably damaging Het
Stk39 C T 2: 68,220,899 probably null Het
Tenm2 T C 11: 36,041,644 T1707A probably damaging Het
Tlr2 A T 3: 83,836,474 D767E probably benign Het
Tmprss7 A G 16: 45,656,455 S815P probably damaging Het
Trav12-1 T A 14: 53,538,560 W57R probably damaging Het
Uxt T C X: 20,959,786 E66G possibly damaging Het
Vmn2r45 A T 7: 8,472,370 M553K probably damaging Het
Vmn2r67 A G 7: 85,136,743 W685R probably benign Het
Vstm5 A C 9: 15,257,666 D144A probably damaging Het
Zfp592 A G 7: 81,024,827 H513R probably damaging Het
Zfp830 T A 11: 82,765,469 Het
Zfp990 A G 4: 145,534,922 Y46C probably null 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
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 OnDec 18, 2015