Incidental Mutation 'R2263:Ticam1'
| ID |
243959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ticam1
|
| Ensembl Gene |
ENSMUSG00000047123 |
| Gene Name |
TIR domain containing adaptor molecule 1 |
| Synonyms |
Trif, TICAM-1 |
| MMRRC Submission |
040263-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2263 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56576462-56583767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56578888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 69
(V69E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058136]
|
| AlphaFold |
Q80UF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058136
AA Change: V69E
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055104
Gene: ENSMUSG00000047123
AA Change: V69E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4BSX|D
|
5 |
153 |
3e-52 |
PDB |
|
low complexity region
|
345 |
384 |
N/A |
INTRINSIC |
|
SCOP:d1fyva_
|
386 |
491 |
8e-3 |
SMART |
|
PDB:2M1X|A
|
391 |
547 |
1e-74 |
PDB |
|
Pfam:RHIM
|
610 |
698 |
4.7e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.1449 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice are viable but exhibit abnormalities of the innate immune system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,224,702 (GRCm39) |
S472P |
probably benign |
Het |
| Armh3 |
A |
G |
19: 45,920,788 (GRCm39) |
|
probably null |
Het |
| Arsi |
T |
C |
18: 61,049,737 (GRCm39) |
Y207H |
probably damaging |
Het |
| Atp2b4 |
C |
T |
1: 133,654,271 (GRCm39) |
R778Q |
probably benign |
Het |
| Bdp1 |
T |
A |
13: 100,202,545 (GRCm39) |
D693V |
probably damaging |
Het |
| Car12 |
C |
A |
9: 66,654,913 (GRCm39) |
Y114* |
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
A |
G |
8: 11,362,586 (GRCm39) |
|
probably benign |
Het |
| Cryl1 |
G |
T |
14: 57,523,865 (GRCm39) |
Y232* |
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,843,760 (GRCm39) |
M4362L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,930,374 (GRCm39) |
T3324A |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,892,809 (GRCm39) |
N798S |
probably damaging |
Het |
| Dok4 |
A |
T |
8: 95,593,140 (GRCm39) |
C182S |
probably damaging |
Het |
| Ehbp1 |
A |
T |
11: 22,045,462 (GRCm39) |
N737K |
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,349,918 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
A |
G |
4: 56,755,298 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 38,943,138 (GRCm39) |
V677A |
possibly damaging |
Het |
| Fbn2 |
A |
G |
18: 58,228,248 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,320,648 (GRCm39) |
Y314* |
probably null |
Het |
| Fgf12 |
T |
A |
16: 28,008,363 (GRCm39) |
K84* |
probably null |
Het |
| Flt3 |
G |
A |
5: 147,284,873 (GRCm39) |
P748L |
probably benign |
Het |
| Folh1 |
C |
T |
7: 86,368,973 (GRCm39) |
S685N |
probably benign |
Het |
| Gpr65 |
A |
T |
12: 98,241,494 (GRCm39) |
N49I |
probably damaging |
Het |
| Hdac7 |
A |
G |
15: 97,708,732 (GRCm39) |
|
probably null |
Het |
| Heatr5a |
A |
T |
12: 51,962,933 (GRCm39) |
V989E |
probably damaging |
Het |
| Kif12 |
A |
G |
4: 63,087,758 (GRCm39) |
S242P |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,115,647 (GRCm39) |
Y295H |
probably benign |
Het |
| Nell1 |
C |
T |
7: 50,210,569 (GRCm39) |
T494I |
possibly damaging |
Het |
| Nmur2 |
A |
T |
11: 55,920,387 (GRCm39) |
V286E |
probably damaging |
Het |
| Or1ad6 |
G |
A |
11: 50,860,696 (GRCm39) |
V284I |
possibly damaging |
Het |
| Or1e1 |
T |
A |
11: 73,245,131 (GRCm39) |
L184Q |
possibly damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,464 (GRCm39) |
F254S |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,331,710 (GRCm39) |
L431H |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,090,111 (GRCm39) |
I384V |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,430,988 (GRCm39) |
|
probably benign |
Het |
| Prim1 |
T |
A |
10: 127,851,132 (GRCm39) |
D5E |
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,278,260 (GRCm39) |
N348I |
possibly damaging |
Het |
| Shisa9 |
G |
T |
16: 11,802,631 (GRCm39) |
A63S |
possibly damaging |
Het |
| Shpk |
G |
A |
11: 73,097,319 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
T |
C |
2: 136,885,935 (GRCm39) |
I85T |
probably damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,133,782 (GRCm39) |
D77V |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,690,006 (GRCm39) |
|
probably null |
Het |
| Synrg |
T |
C |
11: 83,867,978 (GRCm39) |
M61T |
possibly damaging |
Het |
| Tekt4 |
T |
A |
17: 25,695,485 (GRCm39) |
S439R |
possibly damaging |
Het |
| Trpv1 |
C |
T |
11: 73,132,508 (GRCm39) |
A374V |
probably damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,790,842 (GRCm39) |
L416* |
probably null |
Het |
| Uqcrfs1 |
G |
A |
13: 30,725,090 (GRCm39) |
S150L |
probably benign |
Het |
| Utp15 |
T |
C |
13: 98,394,433 (GRCm39) |
N153S |
probably benign |
Het |
| Vmn2r63 |
G |
T |
7: 42,578,031 (GRCm39) |
T169N |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,646,327 (GRCm39) |
V1477E |
probably benign |
Het |
| Wdr87-ps |
T |
C |
7: 29,231,987 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo1 |
T |
A |
11: 23,234,634 (GRCm39) |
|
probably null |
Het |
| Xpo5 |
A |
G |
17: 46,541,269 (GRCm39) |
I769V |
probably benign |
Het |
| Zc3h14 |
A |
T |
12: 98,724,773 (GRCm39) |
H252L |
probably benign |
Het |
| Zfp410 |
G |
T |
12: 84,369,794 (GRCm39) |
|
probably null |
Het |
| Zfp521 |
T |
C |
18: 13,979,297 (GRCm39) |
E372G |
possibly damaging |
Het |
|
| Other mutations in Ticam1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02160:Ticam1
|
APN |
17 |
56,577,560 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02164:Ticam1
|
APN |
17 |
56,577,019 (GRCm39) |
missense |
unknown |
|
|
Lps2
|
UTSW |
17 |
56,576,969 (GRCm39) |
frame shift |
probably null |
|
|
Pangu
|
UTSW |
17 |
56,276,693 (GRCm38) |
critical splice donor site |
probably benign |
|
|
Yue
|
UTSW |
17 |
56,578,339 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0930:Ticam1
|
UTSW |
17 |
56,578,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0930:Ticam1
|
UTSW |
17 |
56,577,226 (GRCm39) |
missense |
unknown |
|
|
R1509:Ticam1
|
UTSW |
17 |
56,578,113 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1837:Ticam1
|
UTSW |
17 |
56,577,799 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1863:Ticam1
|
UTSW |
17 |
56,578,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Ticam1
|
UTSW |
17 |
56,578,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1872:Ticam1
|
UTSW |
17 |
56,578,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1893:Ticam1
|
UTSW |
17 |
56,578,894 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1980:Ticam1
|
UTSW |
17 |
56,578,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1981:Ticam1
|
UTSW |
17 |
56,578,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1982:Ticam1
|
UTSW |
17 |
56,578,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2513:Ticam1
|
UTSW |
17 |
56,578,612 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4294:Ticam1
|
UTSW |
17 |
56,578,339 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4888:Ticam1
|
UTSW |
17 |
56,578,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4982:Ticam1
|
UTSW |
17 |
56,579,020 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5396:Ticam1
|
UTSW |
17 |
56,578,117 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5604:Ticam1
|
UTSW |
17 |
56,578,756 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5641:Ticam1
|
UTSW |
17 |
56,577,629 (GRCm39) |
frame shift |
probably null |
|
|
R5647:Ticam1
|
UTSW |
17 |
56,577,629 (GRCm39) |
frame shift |
probably null |
|
|
R5648:Ticam1
|
UTSW |
17 |
56,577,629 (GRCm39) |
frame shift |
probably null |
|
|
R5657:Ticam1
|
UTSW |
17 |
56,577,629 (GRCm39) |
frame shift |
probably null |
|
|
R5770:Ticam1
|
UTSW |
17 |
56,577,629 (GRCm39) |
frame shift |
probably null |
|
|
R5771:Ticam1
|
UTSW |
17 |
56,577,629 (GRCm39) |
frame shift |
probably null |
|
|
R5964:Ticam1
|
UTSW |
17 |
56,578,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5974:Ticam1
|
UTSW |
17 |
56,578,178 (GRCm39) |
missense |
probably benign |
|
|
R6217:Ticam1
|
UTSW |
17 |
56,577,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6983:Ticam1
|
UTSW |
17 |
56,576,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6984:Ticam1
|
UTSW |
17 |
56,576,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6985:Ticam1
|
UTSW |
17 |
56,576,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6986:Ticam1
|
UTSW |
17 |
56,576,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6987:Ticam1
|
UTSW |
17 |
56,576,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6988:Ticam1
|
UTSW |
17 |
56,576,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6989:Ticam1
|
UTSW |
17 |
56,576,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7029:Ticam1
|
UTSW |
17 |
56,578,154 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7684:Ticam1
|
UTSW |
17 |
56,576,984 (GRCm39) |
missense |
unknown |
|
|
R7755:Ticam1
|
UTSW |
17 |
56,577,182 (GRCm39) |
missense |
unknown |
|
|
R7885:Ticam1
|
UTSW |
17 |
56,578,067 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8021:Ticam1
|
UTSW |
17 |
56,577,089 (GRCm39) |
missense |
unknown |
|
|
R8414:Ticam1
|
UTSW |
17 |
56,578,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8822:Ticam1
|
UTSW |
17 |
56,578,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Ticam1
|
UTSW |
17 |
56,577,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9521:Ticam1
|
UTSW |
17 |
56,578,388 (GRCm39) |
missense |
probably benign |
0.07 |
|
V8831:Ticam1
|
UTSW |
17 |
56,576,969 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATATCTGAACTGCACCGATCCC -3'
(R):5'- GCATTCTAGGTGCCTTGGAAAG -3'
Sequencing Primer
(F):5'- CTCATTCTGGAGTTGGCCCAG -3'
(R):5'- CCTTGGAAAGGGACAGGCTG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation