Incidental Mutation 'IGL01064:Tlr7'
ID53317
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? Probably non essential (E-score: 0.121) question?
Stock #IGL01064
Quality Score
Status
ChromosomeX
Chromosomal Location167304929-167330558 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 167308211 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 93 (E93V)
Ref Sequence ENSEMBL: ENSMUSP00000107789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060719] [ENSMUST00000112161] [ENSMUST00000112164] [ENSMUST00000137492] [ENSMUST00000145284]
Predicted Effect probably damaging
Transcript: ENSMUST00000060719
AA Change: E93V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061853
Gene: ENSMUSG00000044583
AA Change: E93V

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 damaging
Transcript: ENSMUST00000112161
AA Change: E93V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107787
Gene: ENSMUSG00000044583
AA Change: E93V

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 damaging
Transcript: ENSMUST00000112164
AA Change: E93V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107789
Gene: ENSMUSG00000044583
AA Change: E93V

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
Predicted Effect probably benign
Transcript: ENSMUST00000145284
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Jul 2008]
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. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,483,855 T4137S probably benign Het
Abcb1a T C 5: 8,732,388 Y924H possibly damaging Het
Ash1l T G 3: 89,072,484 C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpne6 T C 14: 55,512,730 F106S probably damaging Het
Cysltr1 A T X: 106,578,736 I48N probably damaging Het
Dsg1a A T 18: 20,340,206 I779F probably damaging Het
Fpr-rs4 T A 17: 18,022,517 L262H probably damaging Het
Gart G A 16: 91,623,007 R871C probably damaging Het
Get4 C T 5: 139,252,522 R20C probably damaging Het
Gm13030 G A 4: 138,873,558 P12S probably benign Het
Gm17654 A T 14: 43,578,998 H49Q unknown Het
Gpnmb A G 6: 49,055,659 I506V probably benign Het
Ist1 T C 8: 109,682,611 I86V probably damaging Het
Kcnip1 C T 11: 33,633,192 D198N probably damaging Het
Kif5c A G 2: 49,694,816 I184V possibly damaging Het
Mink1 A T 11: 70,603,481 M236L probably benign Het
Muc5ac A T 7: 141,807,473 N1507I probably benign Het
Nrxn2 G T 19: 6,517,053 E1326D probably damaging Het
Olfr1329 A T 4: 118,916,894 M191K possibly damaging Het
Olfr1469 T C 19: 13,411,226 I219T probably benign Het
Olfr635 A T 7: 103,979,792 Y206F probably benign Het
Patj T C 4: 98,496,973 S326P possibly damaging Het
Pdha2 T C 3: 141,211,015 H244R possibly damaging Het
Pkhd1 C T 1: 20,534,530 probably benign Het
Ptk7 A T 17: 46,573,566 L746* probably null Het
Rad54b G A 4: 11,604,866 G438D probably damaging Het
Rbm27 T C 18: 42,319,814 V536A possibly damaging Het
Rundc3b T A 5: 8,569,553 M135L probably damaging Het
Sorcs2 T C 5: 36,065,352 Y353C probably damaging Het
Srcap T C 7: 127,559,892 V2919A probably benign Het
Sytl5 A G X: 9,905,595 H66R probably benign Het
Tmem156 A G 5: 65,079,984 L76S probably damaging Het
Tmem246 C T 4: 49,586,860 V103M possibly damaging Het
Tomm70a T C 16: 57,152,612 F571S probably damaging Het
Trmt10b A G 4: 45,314,347 Y261C possibly damaging Het
Other mutations in Tlr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Tlr7 APN X 167308475 unclassified possibly damaging 0.94
IGL02940:Tlr7 APN X 167307834 unclassified probably benign 0.02
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 1.00
R1883:Tlr7 UTSW X 167306472 missense probably benign 0.20
R5929:Tlr7 UTSW X 167306882 missense probably damaging 1.00
Posted OnJun 21, 2013