Incidental Mutation 'R7885:Ticam1'
| ID |
609035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ticam1
|
| Ensembl Gene |
ENSMUSG00000047123 |
| Gene Name |
TIR domain containing adaptor molecule 1 |
| Synonyms |
Trif, TICAM-1 |
| MMRRC Submission |
045937-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7885 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56576462-56583767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56578067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 343
(T343A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058136]
|
| AlphaFold |
Q80UF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058136
AA Change: T343A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000055104
Gene: ENSMUSG00000047123
AA Change: T343A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
G |
10: 77,131,542 (GRCm39) |
V649A |
possibly damaging |
Het |
| Arglu1 |
C |
T |
8: 8,717,337 (GRCm39) |
R244H |
possibly damaging |
Het |
| Asic5 |
A |
T |
3: 81,913,812 (GRCm39) |
Y204F |
probably benign |
Het |
| Asz1 |
A |
G |
6: 18,104,876 (GRCm39) |
F76S |
probably damaging |
Het |
| Bin1 |
G |
A |
18: 32,552,896 (GRCm39) |
A174T |
probably damaging |
Het |
| Bnipl |
A |
C |
3: 95,157,551 (GRCm39) |
S23A |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,011,303 (GRCm39) |
T294A |
probably benign |
Het |
| Cdon |
G |
A |
9: 35,367,818 (GRCm39) |
V238I |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,247,451 (GRCm39) |
D957E |
probably benign |
Het |
| Crhbp |
T |
C |
13: 95,568,515 (GRCm39) |
Q307R |
probably damaging |
Het |
| Cst3 |
A |
G |
2: 148,714,741 (GRCm39) |
M112T |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,189,425 (GRCm39) |
E276G |
probably damaging |
Het |
| Exoc4 |
T |
A |
6: 33,735,001 (GRCm39) |
N539K |
probably benign |
Het |
| Gm3099 |
A |
G |
14: 15,345,429 (GRCm39) |
E85G |
probably benign |
Het |
| Gpatch2 |
A |
G |
1: 186,957,698 (GRCm39) |
|
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,704,776 (GRCm39) |
Y26* |
probably null |
Het |
| Hspg2 |
A |
T |
4: 137,244,148 (GRCm39) |
D802V |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,431,813 (GRCm39) |
V846A |
possibly damaging |
Het |
| Lama4 |
T |
A |
10: 38,964,840 (GRCm39) |
S1402T |
probably benign |
Het |
| Lrmda |
A |
G |
14: 22,648,388 (GRCm39) |
T73A |
unknown |
Het |
| Lrrc1 |
A |
T |
9: 77,349,471 (GRCm39) |
V365E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,393,868 (GRCm39) |
Q519L |
probably benign |
Het |
| Mlc1 |
G |
T |
15: 88,862,107 (GRCm39) |
D36E |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,223,092 (GRCm39) |
D445V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,550,760 (GRCm39) |
S5178P |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,573,110 (GRCm39) |
I2491T |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,389,044 (GRCm39) |
I77T |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,109,474 (GRCm39) |
H701N |
probably damaging |
Het |
| Or4n4b |
T |
G |
14: 50,536,041 (GRCm39) |
T242P |
probably damaging |
Het |
| Or7g22 |
A |
T |
9: 19,048,831 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pclo |
T |
TTCTAG |
5: 14,764,209 (GRCm39) |
|
probably null |
Het |
| Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
| Pclo |
TCTAT |
TCTATACTAT |
5: 14,764,205 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
T |
C |
3: 94,906,387 (GRCm39) |
Y645H |
probably damaging |
Het |
| Pik3r5 |
C |
T |
11: 68,383,528 (GRCm39) |
A449V |
possibly damaging |
Het |
| Plat |
A |
G |
8: 23,261,736 (GRCm39) |
T45A |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,848,676 (GRCm39) |
K62R |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 16,740,111 (GRCm39) |
V410A |
possibly damaging |
Het |
| Prdm2 |
C |
T |
4: 142,861,140 (GRCm39) |
A717T |
probably benign |
Het |
| Pstpip2 |
C |
A |
18: 77,882,422 (GRCm39) |
T2K |
probably benign |
Het |
| Ptpn12 |
A |
C |
5: 21,203,523 (GRCm39) |
S418R |
possibly damaging |
Het |
| Rint1 |
A |
G |
5: 24,010,642 (GRCm39) |
S255G |
probably benign |
Het |
| Rmc1 |
T |
C |
18: 12,322,371 (GRCm39) |
L608P |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,714,776 (GRCm39) |
H1581R |
probably benign |
Het |
| Stau2 |
T |
C |
1: 16,530,577 (GRCm39) |
Y114C |
unknown |
Het |
| Tmem131l |
T |
C |
3: 83,817,724 (GRCm39) |
K1259E |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,013,385 (GRCm39) |
F169I |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,673,312 (GRCm39) |
K425E |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,258,089 (GRCm39) |
M746T |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,313,598 (GRCm39) |
I149T |
possibly damaging |
Het |
| Zfp708 |
A |
T |
13: 67,222,193 (GRCm39) |
D62E |
probably benign |
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 |
|
R2263:Ticam1
|
UTSW |
17 |
56,578,888 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
|
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'- ATCAGCCCTGGCATGGATAAC -3'
(R):5'- TAGCGTTCCAGAGGTGTCTC -3'
Sequencing Primer
(F):5'- GATGTTTCTGAGTGGTCCA -3'
(R):5'- TTCCAGAGGTGTCTCCAGAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation