Incidental Mutation 'IGL01550:Tlr12'
| ID |
90569 |
| 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 # |
IGL01550
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
128509239-128512412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128509535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 905
(L905P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074829]
|
| AlphaFold |
Q6QNU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074829
AA Change: L905P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074381
Gene: ENSMUSG00000062545
AA Change: L905P
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
T |
G |
11: 3,887,974 (GRCm39) |
R137S |
unknown |
Het |
| Epha8 |
G |
T |
4: 136,659,051 (GRCm39) |
Q868K |
possibly damaging |
Het |
| Erc1 |
T |
A |
6: 119,760,355 (GRCm39) |
M386L |
probably damaging |
Het |
| Gfpt2 |
T |
A |
11: 49,715,150 (GRCm39) |
|
probably null |
Het |
| Gpr142 |
T |
A |
11: 114,695,152 (GRCm39) |
L39Q |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,474,148 (GRCm39) |
W4765R |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,314,264 (GRCm39) |
E3603V |
possibly damaging |
Het |
| Hsp90b1 |
C |
T |
10: 86,540,234 (GRCm39) |
D26N |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,486,274 (GRCm39) |
T4760A |
probably damaging |
Het |
| Lmo7 |
C |
A |
14: 102,163,576 (GRCm39) |
|
probably benign |
Het |
| Mup4 |
A |
T |
4: 59,960,120 (GRCm39) |
I48K |
probably damaging |
Het |
| Mylk3 |
T |
A |
8: 86,091,718 (GRCm39) |
D29V |
probably damaging |
Het |
| Myo1b |
A |
G |
1: 51,823,690 (GRCm39) |
F405S |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,712,669 (GRCm39) |
D2136G |
possibly damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,986 (GRCm39) |
Y254F |
probably damaging |
Het |
| Or52a20 |
T |
G |
7: 103,366,204 (GRCm39) |
H134Q |
probably damaging |
Het |
| Or5g27 |
T |
A |
2: 85,409,875 (GRCm39) |
C97* |
probably null |
Het |
| Or7e175 |
A |
T |
9: 20,048,750 (GRCm39) |
T113S |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Rpp40 |
T |
C |
13: 36,090,183 (GRCm39) |
|
probably null |
Het |
| Samd7 |
T |
A |
3: 30,819,399 (GRCm39) |
S383T |
probably damaging |
Het |
| Tbc1d10c |
T |
C |
19: 4,234,823 (GRCm39) |
T413A |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,701,828 (GRCm39) |
K643R |
probably benign |
Het |
| Vmn2r124 |
T |
C |
17: 18,283,617 (GRCm39) |
|
probably null |
Het |
| Vwf |
A |
T |
6: 125,656,252 (GRCm39) |
I2606F |
probably benign |
Het |
| Wbp4 |
T |
C |
14: 79,703,774 (GRCm39) |
T258A |
probably benign |
Het |
| Zfp1005 |
T |
A |
2: 150,108,363 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
T |
C |
17: 22,594,021 (GRCm39) |
L137S |
probably damaging |
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 |
|
IGL01290:Tlr12
|
APN |
4 |
128,511,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01406:Tlr12
|
APN |
4 |
128,510,132 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2013-12-09 |
Incidental Mutation