Incidental Mutation 'IGL03329:Tlr12'
| ID |
416815 |
| 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 # |
IGL03329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
128509239-128512412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128510645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 535
(F535S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074829]
|
| AlphaFold |
Q6QNU9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074829
AA Change: F535S
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074381
Gene: ENSMUSG00000062545
AA Change: F535S
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,248,047 (GRCm39) |
D2598G |
probably benign |
Het |
| Abcf2 |
T |
G |
5: 24,776,246 (GRCm39) |
|
probably null |
Het |
| Acsl1 |
T |
A |
8: 46,946,031 (GRCm39) |
C55S |
possibly damaging |
Het |
| Adam22 |
T |
A |
5: 8,199,210 (GRCm39) |
M249L |
possibly damaging |
Het |
| Alk |
A |
G |
17: 72,206,159 (GRCm39) |
|
probably benign |
Het |
| Ambn |
T |
G |
5: 88,609,527 (GRCm39) |
S78R |
probably benign |
Het |
| Apbb1ip |
T |
A |
2: 22,757,729 (GRCm39) |
V449D |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,152,883 (GRCm39) |
Y194* |
probably null |
Het |
| Cacul1 |
A |
T |
19: 60,531,489 (GRCm39) |
F260Y |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,181,081 (GRCm39) |
I2640T |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,841,108 (GRCm39) |
S1446P |
probably damaging |
Het |
| Cimap2 |
G |
T |
4: 106,464,601 (GRCm39) |
R353S |
possibly damaging |
Het |
| Clcn2 |
G |
A |
16: 20,530,902 (GRCm39) |
T276I |
probably damaging |
Het |
| Dcbld1 |
T |
G |
10: 52,195,721 (GRCm39) |
Y310D |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,696,113 (GRCm39) |
V157I |
probably damaging |
Het |
| Dennd5b |
G |
T |
6: 148,899,758 (GRCm39) |
T1213K |
possibly damaging |
Het |
| Dusp8 |
A |
T |
7: 141,638,097 (GRCm39) |
L177* |
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,367,281 (GRCm39) |
S479G |
probably benign |
Het |
| Gpbp1 |
T |
A |
13: 111,589,787 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,608,661 (GRCm39) |
Q1507L |
probably damaging |
Het |
| Inppl1 |
G |
T |
7: 101,473,587 (GRCm39) |
T1021K |
possibly damaging |
Het |
| Klk1b9 |
A |
G |
7: 43,628,838 (GRCm39) |
E114G |
probably benign |
Het |
| Klre1 |
T |
C |
6: 129,562,660 (GRCm39) |
|
probably benign |
Het |
| Lancl1 |
T |
C |
1: 67,060,209 (GRCm39) |
Y72C |
probably damaging |
Het |
| Lilra6 |
A |
G |
7: 3,917,647 (GRCm39) |
|
probably benign |
Het |
| Magi2 |
T |
C |
5: 20,671,126 (GRCm39) |
V490A |
possibly damaging |
Het |
| Myo3b |
T |
A |
2: 70,084,803 (GRCm39) |
N720K |
probably damaging |
Het |
| Or2ah1 |
A |
C |
2: 85,653,729 (GRCm39) |
D138A |
probably benign |
Het |
| Or7e166 |
T |
C |
9: 19,624,597 (GRCm39) |
V158A |
probably benign |
Het |
| Ppp2r3d |
T |
A |
9: 101,003,630 (GRCm39) |
|
probably benign |
Het |
| Rbm47 |
T |
C |
5: 66,184,036 (GRCm39) |
D189G |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,594,973 (GRCm39) |
D1941N |
probably benign |
Het |
| Sgpp2 |
T |
C |
1: 78,367,200 (GRCm39) |
I111T |
probably benign |
Het |
| Sh3bp2 |
T |
C |
5: 34,716,546 (GRCm39) |
V319A |
probably benign |
Het |
| Slc12a3 |
A |
C |
8: 95,092,519 (GRCm39) |
Q980P |
possibly damaging |
Het |
| Slc39a8 |
G |
T |
3: 135,590,474 (GRCm39) |
G389V |
probably damaging |
Het |
| Slc5a3 |
T |
C |
16: 91,874,348 (GRCm39) |
I135T |
probably damaging |
Het |
| Smu1 |
A |
G |
4: 40,739,568 (GRCm39) |
V414A |
possibly damaging |
Het |
| Trim47 |
A |
G |
11: 115,997,254 (GRCm39) |
V501A |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,603 (GRCm39) |
N6K |
probably damaging |
Het |
| Vwce |
G |
A |
19: 10,637,360 (GRCm39) |
C711Y |
possibly damaging |
Het |
| Wdr25 |
C |
T |
12: 108,864,262 (GRCm39) |
L136F |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,234,306 (GRCm39) |
Q437R |
probably benign |
Het |
| Zfp169 |
C |
A |
13: 48,644,270 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
A |
T |
7: 27,403,295 (GRCm39) |
I584F |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,808,099 (GRCm39) |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation