Incidental Mutation 'R4559:Tlr12'
ID |
342978 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tlr12
|
Ensembl Gene |
ENSMUSG00000062545 |
Gene Name |
toll-like receptor 12 |
Synonyms |
LOC384059, Tlr11 |
MMRRC Submission |
041785-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4559 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
128509239-128512412 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 128509563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Tryptophan
at position 896
(G896W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074381
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074829]
|
AlphaFold |
Q6QNU9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074829
AA Change: G896W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000074381 Gene: ENSMUSG00000062545 AA Change: G896W
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% (56/56) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
1700066M21Rik |
T |
C |
1: 57,422,083 (GRCm39) |
F153S |
possibly damaging |
Het |
Acss1 |
A |
G |
2: 150,480,405 (GRCm39) |
V222A |
probably benign |
Het |
Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
Atxn10 |
A |
G |
15: 85,322,321 (GRCm39) |
I398V |
possibly damaging |
Het |
Cep192 |
T |
A |
18: 68,004,584 (GRCm39) |
C2312S |
probably damaging |
Het |
Cidea |
C |
T |
18: 67,493,298 (GRCm39) |
Q106* |
probably null |
Het |
Cnga4 |
A |
G |
7: 105,054,892 (GRCm39) |
T159A |
probably damaging |
Het |
Cyp2j12 |
G |
T |
4: 96,001,194 (GRCm39) |
S304R |
probably damaging |
Het |
Dennd2b |
A |
G |
7: 109,124,785 (GRCm39) |
F665L |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,603,978 (GRCm39) |
V815E |
probably damaging |
Het |
Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
Farp1 |
T |
C |
14: 121,510,213 (GRCm39) |
M737T |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,193,634 (GRCm39) |
D1395V |
possibly damaging |
Het |
Fbn2 |
C |
T |
18: 58,209,146 (GRCm39) |
M1076I |
probably benign |
Het |
Fitm2 |
T |
A |
2: 163,314,593 (GRCm39) |
|
probably benign |
Het |
Fras1 |
A |
G |
5: 96,929,148 (GRCm39) |
R3851G |
probably damaging |
Het |
Frem2 |
C |
T |
3: 53,561,742 (GRCm39) |
V922I |
probably benign |
Het |
Gm10719 |
A |
T |
9: 3,018,945 (GRCm39) |
T200S |
probably benign |
Het |
Grin3a |
T |
C |
4: 49,844,555 (GRCm39) |
D176G |
probably damaging |
Het |
Hdac5 |
T |
C |
11: 102,089,928 (GRCm39) |
|
probably benign |
Het |
Ift140 |
C |
A |
17: 25,309,741 (GRCm39) |
H1090Q |
probably damaging |
Het |
Il20ra |
A |
G |
10: 19,625,032 (GRCm39) |
T104A |
probably damaging |
Het |
Il22ra2 |
A |
G |
10: 19,502,460 (GRCm39) |
D93G |
possibly damaging |
Het |
Ing1 |
A |
G |
8: 11,612,090 (GRCm39) |
K176R |
probably benign |
Het |
Jph1 |
A |
T |
1: 17,074,735 (GRCm39) |
C428S |
probably benign |
Het |
Kif13b |
G |
T |
14: 65,043,581 (GRCm39) |
G1794W |
probably damaging |
Het |
Map10 |
A |
G |
8: 126,398,553 (GRCm39) |
T649A |
probably benign |
Het |
Med12l |
T |
C |
3: 58,914,523 (GRCm39) |
|
probably null |
Het |
Nat8f1 |
A |
G |
6: 85,887,567 (GRCm39) |
I131T |
probably benign |
Het |
Oas1d |
C |
A |
5: 121,054,958 (GRCm39) |
Q177K |
probably benign |
Het |
Or4a74 |
C |
A |
2: 89,440,043 (GRCm39) |
M134I |
probably damaging |
Het |
Or51q1 |
G |
A |
7: 103,628,767 (GRCm39) |
D123N |
probably damaging |
Het |
P2ry2 |
A |
G |
7: 100,647,363 (GRCm39) |
V314A |
possibly damaging |
Het |
Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
Pfkl |
G |
T |
10: 77,824,717 (GRCm39) |
R691S |
probably benign |
Het |
Plb1 |
T |
A |
5: 32,490,175 (GRCm39) |
I1005N |
probably damaging |
Het |
Prkacb |
A |
G |
3: 146,451,147 (GRCm39) |
|
probably benign |
Het |
Ptprm |
A |
T |
17: 66,990,403 (GRCm39) |
Y1412N |
possibly damaging |
Het |
Rab22a |
A |
G |
2: 173,503,226 (GRCm39) |
D13G |
probably damaging |
Het |
Rab29 |
G |
A |
1: 131,800,305 (GRCm39) |
W201* |
probably null |
Het |
Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
Rassf10 |
A |
G |
7: 112,554,338 (GRCm39) |
E313G |
probably benign |
Het |
Sf1 |
GGCAGCAGCAGCAGCAGCAGC |
GGCAGCAGCAGCAGCAGC |
19: 6,424,845 (GRCm39) |
|
probably benign |
Het |
Sipa1l3 |
A |
T |
7: 29,031,678 (GRCm39) |
L468Q |
probably damaging |
Het |
Slc17a1 |
A |
T |
13: 24,062,695 (GRCm39) |
K254* |
probably null |
Het |
Slc6a12 |
G |
A |
6: 121,340,820 (GRCm39) |
|
probably null |
Het |
Slfn8 |
A |
G |
11: 82,895,570 (GRCm39) |
L412P |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,946,583 (GRCm39) |
S469P |
probably damaging |
Het |
Tgoln1 |
T |
C |
6: 72,592,664 (GRCm39) |
E272G |
probably damaging |
Het |
Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,749,890 (GRCm39) |
H3720Y |
probably benign |
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 |
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 |
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'- AGCCTCTTAGACCCACTGTC -3'
(R):5'- ATAGCATGTTGAGCAGCCG -3'
Sequencing Primer
(F):5'- TTAGACCCACTGTCCCCGAC -3'
(R):5'- ATGTTGAGCAGCCGTACCAC -3'
|
Posted On |
2015-09-24 |