Incidental Mutation 'IGL02635:Tlr12'
| ID |
301491 |
| 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 # |
IGL02635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
128509239-128512412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128510609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 547
(V547E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074829]
|
| AlphaFold |
Q6QNU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074829
AA Change: V547E
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074381
Gene: ENSMUSG00000062545
AA Change: V547E
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730018C14Rik |
A |
C |
12: 112,381,586 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc12 |
C |
T |
8: 87,236,311 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,120,500 (GRCm39) |
S3639P |
possibly damaging |
Het |
| Ankar |
C |
T |
1: 72,691,590 (GRCm39) |
V1124I |
possibly damaging |
Het |
| AW209491 |
C |
T |
13: 14,811,852 (GRCm39) |
A235V |
possibly damaging |
Het |
| Cask |
A |
T |
X: 13,581,009 (GRCm39) |
D58E |
probably damaging |
Het |
| Cdhr4 |
T |
A |
9: 107,870,070 (GRCm39) |
M25K |
probably benign |
Het |
| Clasp2 |
A |
G |
9: 113,737,910 (GRCm39) |
I1096V |
probably damaging |
Het |
| Fam234a |
T |
A |
17: 26,433,427 (GRCm39) |
I410F |
possibly damaging |
Het |
| Gbe1 |
T |
C |
16: 70,365,902 (GRCm39) |
L693P |
probably damaging |
Het |
| Golgb1 |
G |
T |
16: 36,735,375 (GRCm39) |
V1541L |
probably benign |
Het |
| Gpr143 |
G |
A |
X: 151,591,257 (GRCm39) |
E382K |
probably damaging |
Het |
| Gpr171 |
C |
T |
3: 59,005,017 (GRCm39) |
V253I |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,494,814 (GRCm39) |
W10R |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,913,556 (GRCm39) |
D116V |
possibly damaging |
Het |
| Ifih1 |
A |
T |
2: 62,442,173 (GRCm39) |
L348Q |
probably damaging |
Het |
| Ighv1-50 |
G |
A |
12: 115,083,615 (GRCm39) |
A35V |
probably benign |
Het |
| Lrcol1 |
A |
C |
5: 110,502,459 (GRCm39) |
M112L |
probably benign |
Het |
| Lrrc59 |
T |
A |
11: 94,534,282 (GRCm39) |
V280E |
probably damaging |
Het |
| Med17 |
A |
T |
9: 15,185,845 (GRCm39) |
I223K |
probably damaging |
Het |
| Oog3 |
T |
C |
4: 143,884,715 (GRCm39) |
N407S |
probably damaging |
Het |
| Or4e1 |
T |
C |
14: 52,701,251 (GRCm39) |
I72V |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,657,453 (GRCm39) |
*1035W |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,791,785 (GRCm39) |
F1157L |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,135,842 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,907,631 (GRCm39) |
E888G |
probably benign |
Het |
| Prh1 |
G |
A |
6: 132,549,246 (GRCm39) |
G251E |
unknown |
Het |
| Prkar2a |
A |
G |
9: 108,605,476 (GRCm39) |
E178G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,592,122 (GRCm39) |
T352S |
possibly damaging |
Het |
| S1pr1 |
T |
C |
3: 115,505,739 (GRCm39) |
K285R |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 125,067,898 (GRCm39) |
H995R |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 109,020,133 (GRCm39) |
N382K |
possibly damaging |
Het |
| Snrnp48 |
T |
G |
13: 38,393,845 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,943,549 (GRCm39) |
D201G |
possibly damaging |
Het |
| Stox1 |
T |
C |
10: 62,500,685 (GRCm39) |
D625G |
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,103,565 (GRCm39) |
H1380R |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,142,296 (GRCm39) |
M430K |
probably benign |
Het |
| Tmem255b |
G |
T |
8: 13,505,195 (GRCm39) |
D167Y |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 56,923,981 (GRCm39) |
R735G |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,848,972 (GRCm39) |
T73A |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,850,827 (GRCm39) |
L1748F |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,338,254 (GRCm39) |
I165T |
possibly damaging |
Het |
| Ybx1 |
T |
C |
4: 119,136,286 (GRCm39) |
N282S |
possibly damaging |
Het |
| Zdhhc12 |
T |
A |
2: 29,983,531 (GRCm39) |
I24F |
probably 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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation