Incidental Mutation 'IGL01290:Tlr12'
| ID |
72875 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tlr12
|
| Ensembl Gene |
ENSMUSG00000062545 |
| Gene Name |
toll-like receptor 12 |
| Synonyms |
LOC384059, Tlr11 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
128509239-128512412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 128511630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 207
(S207A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074829]
|
| AlphaFold |
Q6QNU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074829
AA Change: S207A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074381
Gene: ENSMUSG00000062545
AA Change: S207A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
266 |
N/A |
INTRINSIC |
|
LRR
|
291 |
314 |
1.67e2 |
SMART |
|
LRR
|
315 |
338 |
9.24e1 |
SMART |
|
LRR_TYP
|
341 |
364 |
2.79e-4 |
SMART |
|
LRR
|
365 |
388 |
4.34e-1 |
SMART |
|
LRR
|
389 |
412 |
1.37e1 |
SMART |
|
LRR
|
413 |
436 |
1.71e2 |
SMART |
|
low complexity region
|
443 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
502 |
N/A |
INTRINSIC |
|
LRR
|
591 |
614 |
5.56e0 |
SMART |
|
Pfam:TIR
|
760 |
905 |
5.5e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133382
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation exhibit a greatly increased susceptibility to kidney infection by uropathogenic bacteria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,331,621 (GRCm39) |
H148R |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,206,232 (GRCm39) |
H177Q |
probably damaging |
Het |
| Adamts18 |
T |
A |
8: 114,501,575 (GRCm39) |
E349D |
probably damaging |
Het |
| Cers5 |
G |
A |
15: 99,637,536 (GRCm39) |
R190* |
probably null |
Het |
| Cntnap2 |
C |
T |
6: 45,992,399 (GRCm39) |
T442I |
probably benign |
Het |
| Col14a1 |
C |
T |
15: 55,286,903 (GRCm39) |
A908V |
unknown |
Het |
| Ctnna2 |
T |
C |
6: 76,859,543 (GRCm39) |
D951G |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,835,599 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,782,998 (GRCm39) |
T106A |
possibly damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,505 (GRCm39) |
V225A |
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,185 (GRCm39) |
N167S |
probably damaging |
Het |
| Gnal |
A |
G |
18: 67,344,169 (GRCm39) |
D181G |
probably damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,727,408 (GRCm39) |
Y174C |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,809,844 (GRCm39) |
D445N |
probably damaging |
Het |
| Hoxb8 |
A |
G |
11: 96,175,093 (GRCm39) |
I176V |
possibly damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,204,137 (GRCm39) |
E285D |
probably benign |
Het |
| Megf8 |
C |
T |
7: 25,049,083 (GRCm39) |
R1727* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,350,180 (GRCm39) |
D611G |
probably damaging |
Het |
| Nudt19 |
A |
G |
7: 35,247,501 (GRCm39) |
S303P |
probably damaging |
Het |
| Rhcg |
A |
G |
7: 79,248,342 (GRCm39) |
F421L |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,139,198 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
A |
G |
15: 58,770,175 (GRCm39) |
I67V |
probably benign |
Het |
| Smarca5 |
A |
G |
8: 81,454,277 (GRCm39) |
S256P |
probably benign |
Het |
| Sun3 |
C |
T |
11: 8,973,341 (GRCm39) |
G119S |
possibly damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,016,701 (GRCm39) |
|
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,487 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tlr12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00568:Tlr12
|
APN |
4 |
128,511,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00654:Tlr12
|
APN |
4 |
128,511,233 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01406:Tlr12
|
APN |
4 |
128,510,132 (GRCm39) |
nonsense |
probably null |
|
|
IGL01550:Tlr12
|
APN |
4 |
128,509,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02590:Tlr12
|
APN |
4 |
128,511,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02592:Tlr12
|
APN |
4 |
128,511,479 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02635:Tlr12
|
APN |
4 |
128,510,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02714:Tlr12
|
APN |
4 |
128,511,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03104:Tlr12
|
APN |
4 |
128,509,685 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03131:Tlr12
|
APN |
4 |
128,509,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03329:Tlr12
|
APN |
4 |
128,510,645 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03354:Tlr12
|
APN |
4 |
128,509,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Tlr12
|
UTSW |
4 |
128,510,084 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1536:Tlr12
|
UTSW |
4 |
128,511,545 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1807:Tlr12
|
UTSW |
4 |
128,511,229 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1989:Tlr12
|
UTSW |
4 |
128,510,862 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2905:Tlr12
|
UTSW |
4 |
128,509,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3870:Tlr12
|
UTSW |
4 |
128,510,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4026:Tlr12
|
UTSW |
4 |
128,510,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4296:Tlr12
|
UTSW |
4 |
128,511,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4398:Tlr12
|
UTSW |
4 |
128,509,988 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4528:Tlr12
|
UTSW |
4 |
128,511,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Tlr12
|
UTSW |
4 |
128,509,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4599:Tlr12
|
UTSW |
4 |
128,511,125 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4999:Tlr12
|
UTSW |
4 |
128,511,473 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5054:Tlr12
|
UTSW |
4 |
128,511,063 (GRCm39) |
nonsense |
probably null |
|
|
R5177:Tlr12
|
UTSW |
4 |
128,512,169 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5207:Tlr12
|
UTSW |
4 |
128,510,502 (GRCm39) |
nonsense |
probably null |
|
|
R5533:Tlr12
|
UTSW |
4 |
128,509,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6484:Tlr12
|
UTSW |
4 |
128,509,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6568:Tlr12
|
UTSW |
4 |
128,511,785 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6821:Tlr12
|
UTSW |
4 |
128,510,685 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7465:Tlr12
|
UTSW |
4 |
128,509,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7594:Tlr12
|
UTSW |
4 |
128,511,473 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7810:Tlr12
|
UTSW |
4 |
128,510,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7957:Tlr12
|
UTSW |
4 |
128,510,483 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8258:Tlr12
|
UTSW |
4 |
128,511,492 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8259:Tlr12
|
UTSW |
4 |
128,511,492 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8377:Tlr12
|
UTSW |
4 |
128,509,566 (GRCm39) |
missense |
probably benign |
|
|
R8422:Tlr12
|
UTSW |
4 |
128,510,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9098:Tlr12
|
UTSW |
4 |
128,510,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation