Incidental Mutation 'IGL01064:Tlr7'
ID 53317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr7
Ensembl Gene ENSMUSG00000044583
Gene Name toll-like receptor 7
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # IGL01064
Quality Score
Status
Chromosome X
Chromosomal Location 166087925-166113554 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 166091207 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P58681
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: 9,433,855 (GRCm39) T4137S probably benign Het
Abcb1a T C 5: 8,782,388 (GRCm39) Y924H possibly damaging Het
Ash1l T G 3: 88,979,791 (GRCm39) C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpne6 T C 14: 55,750,187 (GRCm39) F106S probably damaging Het
Cysltr1 A T X: 105,622,342 (GRCm39) I48N probably damaging Het
Dsg1a A T 18: 20,473,263 (GRCm39) I779F probably damaging Het
Fpr-rs4 T A 17: 18,242,779 (GRCm39) L262H probably damaging Het
Gart G A 16: 91,419,895 (GRCm39) R871C probably damaging Het
Get4 C T 5: 139,238,277 (GRCm39) R20C probably damaging Het
Gm13030 G A 4: 138,600,869 (GRCm39) probably benign Het
Gm17654 A T 14: 43,816,455 (GRCm39) H49Q unknown Het
Gpnmb A G 6: 49,032,593 (GRCm39) I506V probably benign Het
Ist1 T C 8: 110,409,243 (GRCm39) I86V probably damaging Het
Kcnip1 C T 11: 33,583,192 (GRCm39) D198N probably damaging Het
Kif5c A G 2: 49,584,828 (GRCm39) I184V possibly damaging Het
Mink1 A T 11: 70,494,307 (GRCm39) M236L probably benign Het
Muc5ac A T 7: 141,361,210 (GRCm39) N1507I probably benign Het
Nrxn2 G T 19: 6,567,083 (GRCm39) E1326D probably damaging Het
Or10ak8 A T 4: 118,774,091 (GRCm39) M191K possibly damaging Het
Or51q1 A T 7: 103,628,999 (GRCm39) Y200F probably benign Het
Or5b3 T C 19: 13,388,590 (GRCm39) I219T probably benign Het
Patj T C 4: 98,385,210 (GRCm39) S326P possibly damaging Het
Pdha2 T C 3: 140,916,776 (GRCm39) H244R possibly damaging Het
Pgap4 C T 4: 49,586,860 (GRCm39) V103M possibly damaging Het
Pkhd1 C T 1: 20,604,754 (GRCm39) probably benign Het
Ptk7 A T 17: 46,884,492 (GRCm39) L746* probably null Het
Rad54b G A 4: 11,604,866 (GRCm39) G438D probably damaging Het
Rbm27 T C 18: 42,452,879 (GRCm39) V536A possibly damaging Het
Rundc3b T A 5: 8,619,553 (GRCm39) M135L probably damaging Het
Sorcs2 T C 5: 36,222,696 (GRCm39) Y353C probably damaging Het
Srcap T C 7: 127,159,064 (GRCm39) probably benign Het
Sytl5 A G X: 9,771,834 (GRCm39) H66R probably benign Het
Tmem156 A G 5: 65,237,327 (GRCm39) L76S probably damaging Het
Tomm70a T C 16: 56,972,975 (GRCm39) F571S probably damaging Het
Trmt10b A G 4: 45,314,347 (GRCm39) Y261C possibly damaging Het
Other mutations in Tlr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Tlr7 APN X 166,091,471 (GRCm39) missense possibly damaging 0.94
IGL02940:Tlr7 APN X 166,090,830 (GRCm39) missense probably benign 0.02
IGL03064:Tlr7 APN X 166,089,203 (GRCm39) missense possibly damaging 0.89
IGL03298:Tlr7 APN X 166,089,703 (GRCm39) missense probably benign 0.45
rsq1 UTSW X 166,091,282 (GRCm39) missense probably damaging 1.00
rsq2 UTSW X 166,090,941 (GRCm39) missense probably damaging 1.00
rsq3 UTSW X 166,090,941 (GRCm39) missense probably damaging 1.00
R1400:Tlr7 UTSW X 166,090,845 (GRCm39) missense probably damaging 1.00
R1883:Tlr7 UTSW X 166,089,468 (GRCm39) missense probably benign 0.20
R5929:Tlr7 UTSW X 166,089,878 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21