Incidental Mutation 'R8422:Tlr12'
ID |
653246 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tlr12
|
Ensembl Gene |
ENSMUSG00000062545 |
Gene Name |
toll-like receptor 12 |
Synonyms |
LOC384059, Tlr11 |
MMRRC Submission |
067817-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8422 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
128509239-128512412 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128510427 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 608
(S608P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074381
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074829]
|
AlphaFold |
Q6QNU9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074829
AA Change: S608P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074381 Gene: ENSMUSG00000062545 AA Change: S608P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
G |
T |
14: 32,384,254 (GRCm39) |
S570R |
possibly damaging |
Het |
4921517D22Rik |
T |
C |
13: 59,839,443 (GRCm39) |
M1V |
probably null |
Het |
4921524J17Rik |
T |
G |
8: 86,138,918 (GRCm39) |
K57T |
possibly damaging |
Het |
4930596D02Rik |
G |
T |
14: 35,532,009 (GRCm39) |
Q189K |
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,517,757 (GRCm39) |
T296A |
probably benign |
Het |
Aqp7 |
T |
A |
4: 41,035,622 (GRCm39) |
M78L |
probably benign |
Het |
C1qtnf5 |
C |
A |
9: 44,019,961 (GRCm39) |
A195E |
possibly damaging |
Het |
Calhm2 |
T |
C |
19: 47,121,579 (GRCm39) |
I197V |
probably benign |
Het |
Ccdc186 |
G |
A |
19: 56,801,617 (GRCm39) |
L167F |
probably benign |
Het |
Ccr3 |
T |
C |
9: 123,828,799 (GRCm39) |
Y45H |
probably damaging |
Het |
Cct3 |
G |
C |
3: 88,208,126 (GRCm39) |
R38P |
probably damaging |
Het |
Clstn2 |
T |
C |
9: 97,340,239 (GRCm39) |
D711G |
probably benign |
Het |
Dab2ip |
T |
A |
2: 35,597,767 (GRCm39) |
I157N |
probably damaging |
Het |
Dchs2 |
T |
C |
3: 83,232,570 (GRCm39) |
V2185A |
probably benign |
Het |
Dis3l2 |
A |
G |
1: 86,782,099 (GRCm39) |
T219A |
probably benign |
Het |
F2rl3 |
G |
T |
8: 73,489,813 (GRCm39) |
V347L |
probably benign |
Het |
Fastkd1 |
A |
G |
2: 69,532,778 (GRCm39) |
S530P |
probably damaging |
Het |
Fgfr3 |
T |
A |
5: 33,892,249 (GRCm39) |
Y689* |
probably null |
Het |
Gm10521 |
A |
G |
1: 171,724,026 (GRCm39) |
I112M |
unknown |
Het |
Gm9736 |
C |
A |
10: 77,586,714 (GRCm39) |
V159F |
unknown |
Het |
Hba-x |
A |
T |
11: 32,227,736 (GRCm39) |
H88L |
probably benign |
Het |
Il12rb2 |
A |
T |
6: 67,337,800 (GRCm39) |
V27E |
probably benign |
Het |
Imp4 |
G |
T |
1: 34,482,997 (GRCm39) |
G196V |
probably damaging |
Het |
Itga11 |
A |
C |
9: 62,674,960 (GRCm39) |
I831L |
probably benign |
Het |
Macf1 |
C |
T |
4: 123,303,279 (GRCm39) |
V408I |
possibly damaging |
Het |
Nedd4 |
T |
A |
9: 72,649,964 (GRCm39) |
D771E |
probably damaging |
Het |
Noc3l |
T |
C |
19: 38,795,547 (GRCm39) |
Y413C |
probably benign |
Het |
Npas3 |
C |
A |
12: 54,115,292 (GRCm39) |
T738K |
probably benign |
Het |
Ntrk2 |
A |
T |
13: 59,133,715 (GRCm39) |
D498V |
probably damaging |
Het |
Nyap1 |
T |
C |
5: 137,734,083 (GRCm39) |
T317A |
probably benign |
Het |
Or10g7 |
T |
C |
9: 39,905,850 (GRCm39) |
L248P |
probably damaging |
Het |
Or14a256 |
T |
A |
7: 86,265,466 (GRCm39) |
H129L |
probably benign |
Het |
Or4c107 |
T |
C |
2: 88,789,341 (GRCm39) |
M177T |
probably benign |
Het |
Or5d47 |
T |
A |
2: 87,804,143 (GRCm39) |
I289L |
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,637,849 (GRCm39) |
D125V |
probably damaging |
Het |
Phc3 |
G |
A |
3: 30,984,039 (GRCm39) |
Q692* |
probably null |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Ppp1r12a |
T |
A |
10: 108,077,042 (GRCm39) |
H339Q |
probably benign |
Het |
Ppp1r3a |
G |
A |
6: 14,718,434 (GRCm39) |
Q827* |
probably null |
Het |
Ptpra |
T |
A |
2: 130,374,091 (GRCm39) |
I265N |
possibly damaging |
Het |
Rabggta |
G |
T |
14: 55,955,915 (GRCm39) |
H447Q |
probably benign |
Het |
Ralgps1 |
T |
C |
2: 33,062,442 (GRCm39) |
D277G |
possibly damaging |
Het |
Riok3 |
A |
T |
18: 12,269,869 (GRCm39) |
E100V |
probably null |
Het |
Rtcb |
C |
T |
10: 85,779,168 (GRCm39) |
V362M |
probably benign |
Het |
Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
Slco6c1 |
T |
C |
1: 97,053,508 (GRCm39) |
E131G |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,726,014 (GRCm39) |
M393V |
probably benign |
Het |
Tas2r136 |
A |
T |
6: 132,754,290 (GRCm39) |
I279N |
probably damaging |
Het |
Tbx3 |
G |
T |
5: 119,818,581 (GRCm39) |
K405N |
possibly damaging |
Het |
Thumpd2 |
A |
T |
17: 81,334,373 (GRCm39) |
V405D |
probably damaging |
Het |
Wfs1 |
T |
C |
5: 37,131,219 (GRCm39) |
K165E |
probably benign |
Het |
Zfp810 |
C |
A |
9: 22,194,518 (GRCm39) |
E57* |
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 |
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 |
|
R9098:Tlr12
|
UTSW |
4 |
128,510,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTTTAGTGGACCGCTTAACC -3'
(R):5'- TCCCCAAACTTCAGTCCTTGAG -3'
Sequencing Primer
(F):5'- TTAGTGGACCGCTTAACCCATGG -3'
(R):5'- CCAAACTTCAGTCCTTGAGGGTATG -3'
|
Posted On |
2020-10-20 |