Incidental Mutation 'IGL03298:Tlr7'
| ID |
416161 |
| 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)
|
| Stock # |
IGL03298
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
166087925-166113554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 166089703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 594
(K594N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060719]
[ENSMUST00000112161]
[ENSMUST00000112164]
[ENSMUST00000137492]
[ENSMUST00000145284]
|
| AlphaFold |
P58681 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060719
AA Change: K594N
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000061853
Gene: ENSMUSG00000044583
AA Change: K594N
| Domain | Start | End | E-Value | Type |
|---|
|
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: K594N
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107787
Gene: ENSMUSG00000044583
AA Change: K594N
| Domain | Start | End | E-Value | Type |
|---|
|
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: K594N
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107789
Gene: ENSMUSG00000044583
AA Change: K594N
| Domain | Start | End | E-Value | Type |
|---|
|
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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,923 (GRCm39) |
T1344A |
probably benign |
Het |
| Abcc4 |
C |
A |
14: 118,848,880 (GRCm39) |
D491Y |
probably damaging |
Het |
| Casp2 |
C |
T |
6: 42,245,924 (GRCm39) |
|
probably benign |
Het |
| Ccnb2 |
T |
C |
9: 70,326,156 (GRCm39) |
T63A |
probably benign |
Het |
| Cgrrf1 |
A |
G |
14: 47,083,778 (GRCm39) |
I187V |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,338,625 (GRCm39) |
V845M |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,885 (GRCm39) |
M691T |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,363,682 (GRCm39) |
I4081M |
probably damaging |
Het |
| H2-T3 |
T |
C |
17: 36,500,320 (GRCm39) |
Y125C |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,993,903 (GRCm39) |
D349V |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,158,696 (GRCm39) |
T651A |
unknown |
Het |
| Megf10 |
C |
T |
18: 57,416,910 (GRCm39) |
Q760* |
probably null |
Het |
| Mroh7 |
T |
A |
4: 106,571,288 (GRCm39) |
K22* |
probably null |
Het |
| Or4f53 |
A |
T |
2: 111,087,879 (GRCm39) |
M140L |
probably benign |
Het |
| Or7g29 |
A |
T |
9: 19,286,358 (GRCm39) |
V273E |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,571,829 (GRCm39) |
Y107N |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,115,834 (GRCm39) |
Q3058L |
probably damaging |
Het |
| Ss18 |
T |
C |
18: 14,812,484 (GRCm39) |
M36V |
possibly damaging |
Het |
| Trim10 |
A |
G |
17: 37,187,917 (GRCm39) |
S378G |
possibly damaging |
Het |
| Zfp644 |
A |
G |
5: 106,782,967 (GRCm39) |
S1105P |
possibly damaging |
Het |
|
| Other mutations in Tlr7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00556:Tlr7
|
APN |
X |
166,091,471 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01064:Tlr7
|
APN |
X |
166,091,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation