Incidental Mutation 'R2905:Tlr12'
ID |
261613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tlr12
|
Ensembl Gene |
ENSMUSG00000062545 |
Gene Name |
toll-like receptor 12 |
Synonyms |
LOC384059, Tlr11 |
MMRRC Submission |
040492-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2905 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
128509239-128512412 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128509802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 816
(M816T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074381
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074829]
|
AlphaFold |
Q6QNU9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074829
AA Change: M816T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000074381 Gene: ENSMUSG00000062545 AA Change: M816T
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (32/32) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ajap1 |
C |
A |
4: 153,517,284 (GRCm39) |
R19L |
probably benign |
Het |
Alk |
A |
C |
17: 72,292,489 (GRCm39) |
S496R |
probably benign |
Het |
Arhgap15 |
T |
C |
2: 43,953,798 (GRCm39) |
F175L |
probably damaging |
Het |
Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
Cuedc2 |
C |
T |
19: 46,321,088 (GRCm39) |
V15I |
probably benign |
Het |
Dennd3 |
T |
A |
15: 73,429,495 (GRCm39) |
L4Q |
probably damaging |
Het |
Dusp8 |
T |
A |
7: 141,637,126 (GRCm39) |
K234* |
probably null |
Het |
Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
F7 |
C |
T |
8: 13,084,775 (GRCm39) |
T267I |
probably benign |
Het |
Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
Hmcn1 |
A |
G |
1: 150,624,786 (GRCm39) |
S1040P |
probably damaging |
Het |
Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
Jtb |
C |
G |
3: 90,139,799 (GRCm39) |
P62R |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Ly6m |
T |
A |
15: 74,751,716 (GRCm39) |
Y106F |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,164,898 (GRCm39) |
V760A |
probably benign |
Het |
Nudt4 |
T |
G |
10: 95,399,571 (GRCm39) |
K17Q |
probably benign |
Het |
Or6c217 |
T |
C |
10: 129,738,269 (GRCm39) |
I103M |
possibly damaging |
Het |
Pde4a |
A |
T |
9: 21,112,645 (GRCm39) |
T274S |
probably benign |
Het |
Pou6f1 |
C |
T |
15: 100,483,839 (GRCm39) |
V220I |
probably benign |
Het |
Relch |
T |
C |
1: 105,619,719 (GRCm39) |
V316A |
probably benign |
Het |
Rif1 |
T |
C |
2: 51,988,516 (GRCm39) |
S752P |
probably damaging |
Het |
Ror2 |
A |
G |
13: 53,286,031 (GRCm39) |
I73T |
probably benign |
Het |
Samhd1 |
A |
T |
2: 156,965,335 (GRCm39) |
F160Y |
possibly damaging |
Het |
Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
Thop1 |
T |
C |
10: 80,915,425 (GRCm39) |
L295P |
probably damaging |
Het |
Trip12 |
T |
C |
1: 84,732,064 (GRCm39) |
N970S |
probably benign |
Het |
Ttll8 |
A |
T |
15: 88,798,680 (GRCm39) |
M685K |
probably benign |
Het |
Ushbp1 |
G |
A |
8: 71,840,179 (GRCm39) |
R491* |
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 |
IGL01290:Tlr12
|
APN |
4 |
128,511,630 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCTGTGGTAACCCGGAAG -3'
(R):5'- AGGAACTCTTGGATCCCCTAC -3'
Sequencing Primer
(F):5'- TGGTAACCCGGAAGCTGGTG -3'
(R):5'- ACCTGCAGGCCTTGTTCAG -3'
|
Posted On |
2015-01-23 |