Incidental Mutation 'IGL03064:Tlr7'
ID409578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr7
Ensembl Gene ENSMUSG00000044583
Gene Nametoll-like receptor 7
SynonymsRP23-139P21.3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03064
Quality Score
Status
ChromosomeX
Chromosomal Location167304929-167330558 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 167306207 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 761 (Q761L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060719] [ENSMUST00000112161] [ENSMUST00000112164]
Predicted Effect possibly damaging
Transcript: ENSMUST00000060719
AA Change: Q761L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061853
Gene: ENSMUSG00000044583
AA Change: Q761L

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 possibly damaging
Transcript: ENSMUST00000112161
AA Change: Q761L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107787
Gene: ENSMUSG00000044583
AA Change: Q761L

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 possibly damaging
Transcript: ENSMUST00000112164
AA Change: Q761L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107789
Gene: ENSMUSG00000044583
AA Change: Q761L

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,575,641 T210A probably damaging Het
Adgb T A 10: 10,400,572 T351S probably benign Het
Akap9 A G 5: 3,968,755 H1112R probably damaging Het
Angptl6 A T 9: 20,875,643 Y261* probably null Het
Arhgef10l A C 4: 140,579,279 F395V probably damaging Het
Bub1 T C 2: 127,817,453 N328S probably benign Het
Cacna1s A G 1: 136,111,993 N1452D probably damaging Het
Cacna2d2 C A 9: 107,509,275 F200L probably damaging Het
Calca G A 7: 114,633,684 S110L probably benign Het
Ccdc120 G A X: 7,735,362 P263S probably benign Het
Dgki C A 6: 37,149,664 Het
Ear1 G T 14: 43,819,045 S122* probably null Het
F5 A T 1: 164,195,594 T1574S probably benign Het
Fam227b T C 2: 126,126,842 probably null Het
Gm20521 T A 14: 54,897,223 S301T possibly damaging Het
Hsd17b7 A T 1: 169,959,718 I239N probably benign Het
Itih1 C A 14: 30,941,557 E167D probably benign Het
Lama1 A T 17: 67,779,104 Y1446F possibly damaging Het
Lama3 C T 18: 12,439,349 T537M possibly damaging Het
Lars G T 18: 42,221,571 Y770* probably null Het
Lrp2 A T 2: 69,483,133 V2418E probably damaging Het
Maip1 A G 1: 57,407,200 E143G probably damaging Het
Mast4 G T 13: 102,760,964 S907* probably null Het
Mctp1 C T 13: 76,801,513 Q555* probably null Het
Med14 A T X: 12,747,503 D291E probably benign Het
Mgat2 T A 12: 69,185,003 V117D probably damaging Het
Mllt1 A T 17: 56,900,094 M250K probably benign Het
Myt1 A C 2: 181,797,801 Y372S probably benign Het
Naa16 T A 14: 79,339,628 Q735H probably damaging Het
Ncf4 A G 15: 78,250,902 Y53C probably damaging Het
Nlrp4a A T 7: 26,449,509 K180N probably benign Het
Nova1 A G 12: 46,700,078 V472A probably damaging Het
Nup153 T C 13: 46,693,839 T705A probably benign Het
Odf2 T A 2: 29,901,079 N79K probably benign Het
Olfr1303 A G 2: 111,814,423 I101T possibly damaging Het
Pard3b G A 1: 62,198,771 Het
Pde8b G A 13: 95,046,398 T388I probably damaging Het
Pet2 A G X: 89,405,251 V424A possibly damaging Het
Phactr2 A G 10: 13,388,713 noncoding transcript Het
Phf12 T C 11: 77,983,360 S17P probably damaging Het
Psmg2 T A 18: 67,646,032 L90* probably null Het
Ryr2 T C 13: 11,643,902 probably null Het
Sec23b T C 2: 144,582,032 F534L probably benign Het
Sin3b A G 8: 72,757,058 noncoding transcript Het
Slc30a5 A T 13: 100,811,310 L520Q probably damaging Het
Slc35g3 T C 11: 69,761,069 H52R possibly damaging Het
Slc6a3 G T 13: 73,571,466 S538I probably damaging Het
Socs2 G T 10: 95,412,851 C133* probably null Het
Srebf2 G A 15: 82,192,222 R731H probably benign Het
Tlr11 C A 14: 50,361,100 P181Q probably damaging Het
Tmem120b T A 5: 123,102,273 Y90N possibly damaging Het
Tpcn1 T C 5: 120,537,566 I778V possibly damaging Het
Ttll8 T C 15: 88,919,594 T385A probably benign Het
Vmn1r223 G A 13: 23,249,983 R249H probably damaging Het
Vmn2r53 A T 7: 12,601,010 I241N possibly damaging Het
Wdfy3 T C 5: 101,935,997 R808G probably damaging Het
Zfyve26 T A 12: 79,261,791 S1660C probably 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
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 OnAug 02, 2016