Incidental Mutation 'IGL03354:Tlr12'
| ID |
419870 |
| 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 # |
IGL03354
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
128509239-128512412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128509730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 840
(L840P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074829]
|
| AlphaFold |
Q6QNU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074829
AA Change: L840P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074381
Gene: ENSMUSG00000062545
AA Change: L840P
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
A |
5: 138,645,041 (GRCm39) |
A309T |
possibly damaging |
Het |
| Abca15 |
C |
A |
7: 119,993,711 (GRCm39) |
Y1310* |
probably null |
Het |
| Adad1 |
G |
T |
3: 37,160,322 (GRCm39) |
C552F |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,208,890 (GRCm39) |
S180P |
possibly damaging |
Het |
| Anxa10 |
A |
T |
8: 62,549,778 (GRCm39) |
D22E |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,516,174 (GRCm39) |
S1255P |
probably damaging |
Het |
| Bhlhe41 |
T |
C |
6: 145,809,929 (GRCm39) |
T92A |
probably damaging |
Het |
| Bicc1 |
G |
A |
10: 70,782,432 (GRCm39) |
P603S |
probably benign |
Het |
| Camk2d |
T |
C |
3: 126,590,615 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
T |
A |
6: 29,419,102 (GRCm39) |
I808N |
probably damaging |
Het |
| Cd200r3 |
C |
T |
16: 44,773,960 (GRCm39) |
A124V |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,482,050 (GRCm39) |
E310G |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,162 (GRCm39) |
D357V |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,124,849 (GRCm39) |
V173I |
probably damaging |
Het |
| Dnajb4 |
T |
A |
3: 151,892,115 (GRCm39) |
E239D |
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,149,981 (GRCm39) |
|
probably benign |
Het |
| Emp2 |
A |
G |
16: 10,103,429 (GRCm39) |
I74T |
probably damaging |
Het |
| Ermn |
T |
G |
2: 57,942,634 (GRCm39) |
E32A |
probably benign |
Het |
| F10 |
C |
A |
8: 13,095,089 (GRCm39) |
T82N |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,520,951 (GRCm39) |
D295G |
possibly damaging |
Het |
| Gm527 |
T |
A |
12: 64,969,154 (GRCm39) |
F194I |
probably damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,703,140 (GRCm39) |
T98M |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,221,512 (GRCm39) |
R330G |
possibly damaging |
Het |
| H1f4 |
C |
T |
13: 23,806,060 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,987,957 (GRCm39) |
H549R |
probably damaging |
Het |
| Klhl14 |
T |
A |
18: 21,784,785 (GRCm39) |
D214V |
probably damaging |
Het |
| Lipo2 |
A |
G |
19: 33,708,270 (GRCm39) |
F248S |
probably benign |
Het |
| Mctp2 |
C |
T |
7: 71,810,992 (GRCm39) |
V661I |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,992,373 (GRCm39) |
M1616L |
probably benign |
Het |
| Nlrp4b |
A |
T |
7: 10,448,465 (GRCm39) |
I223F |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,524 (GRCm39) |
S64C |
possibly damaging |
Het |
| Or1j18 |
G |
T |
2: 36,624,525 (GRCm39) |
S64I |
possibly damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,326,654 (GRCm39) |
Y191C |
probably damaging |
Het |
| Or2ag2 |
A |
G |
7: 106,485,307 (GRCm39) |
V239A |
probably benign |
Het |
| Or2b28 |
T |
C |
13: 21,531,686 (GRCm39) |
V196A |
possibly damaging |
Het |
| Or4c3d |
A |
C |
2: 89,881,911 (GRCm39) |
C252W |
probably damaging |
Het |
| Or5p80 |
T |
A |
7: 108,229,735 (GRCm39) |
C179S |
possibly damaging |
Het |
| Or5w1b |
T |
C |
2: 87,475,939 (GRCm39) |
N176S |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,161,893 (GRCm39) |
D116G |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,388,174 (GRCm39) |
D440G |
probably benign |
Het |
| Plekho2 |
T |
C |
9: 65,466,703 (GRCm39) |
E129G |
probably null |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,715,302 (GRCm39) |
L248P |
probably damaging |
Het |
| Ruvbl1 |
C |
A |
6: 88,456,197 (GRCm39) |
Y90* |
probably null |
Het |
| Schip1 |
A |
G |
3: 68,402,298 (GRCm39) |
D125G |
possibly damaging |
Het |
| Skic3 |
T |
C |
13: 76,330,941 (GRCm39) |
V1457A |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,597,303 (GRCm39) |
S62P |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,256,022 (GRCm39) |
V656A |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,834,082 (GRCm39) |
I438N |
probably damaging |
Het |
| Wdr11 |
C |
A |
7: 129,227,026 (GRCm39) |
F829L |
probably benign |
Het |
| Zdhhc11 |
A |
T |
13: 74,127,264 (GRCm39) |
I214F |
possibly 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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation