Incidental Mutation 'R5648:Ticam1'
ID |
441293 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ticam1
|
Ensembl Gene |
ENSMUSG00000047123 |
Gene Name |
TIR domain containing adaptor molecule 1 |
Synonyms |
Trif, TICAM-1 |
MMRRC Submission |
043169-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5648 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
56576462-56583767 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
TCACACA to TCACA
at 56577629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058136]
|
AlphaFold |
Q80UF7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000058136
|
SMART Domains |
Protein: ENSMUSP00000055104 Gene: ENSMUSG00000047123
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,326,510 (GRCm39) |
|
probably null |
Het |
Alpk2 |
A |
G |
18: 65,482,988 (GRCm39) |
V340A |
probably damaging |
Het |
Cald1 |
G |
T |
6: 34,739,267 (GRCm39) |
|
probably null |
Het |
Col24a1 |
C |
T |
3: 145,064,321 (GRCm39) |
T702I |
probably benign |
Het |
Ddx50 |
T |
C |
10: 62,452,049 (GRCm39) |
R725G |
unknown |
Het |
Dnah9 |
A |
T |
11: 65,818,581 (GRCm39) |
F68L |
probably benign |
Het |
Dnmt3b |
G |
A |
2: 153,519,118 (GRCm39) |
V651M |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,348,683 (GRCm39) |
C299Y |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,375,162 (GRCm39) |
I562V |
probably benign |
Het |
Esco2 |
A |
T |
14: 66,068,641 (GRCm39) |
V223D |
probably damaging |
Het |
Ggt6 |
T |
C |
11: 72,326,542 (GRCm39) |
I33T |
possibly damaging |
Het |
Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
Gm9847 |
A |
G |
12: 14,545,130 (GRCm39) |
|
noncoding transcript |
Het |
Gnao1 |
A |
T |
8: 94,676,070 (GRCm39) |
Y116F |
probably damaging |
Het |
Gvin1 |
A |
T |
7: 105,762,606 (GRCm39) |
I621K |
possibly damaging |
Het |
Hyal6 |
T |
C |
6: 24,734,235 (GRCm39) |
M56T |
possibly damaging |
Het |
Hyou1 |
T |
A |
9: 44,296,546 (GRCm39) |
D490E |
probably damaging |
Het |
Igsf10 |
G |
C |
3: 59,235,574 (GRCm39) |
Q1536E |
probably benign |
Het |
Klk1b8 |
T |
C |
7: 43,448,068 (GRCm39) |
S31P |
possibly damaging |
Het |
Map3k6 |
A |
C |
4: 132,970,646 (GRCm39) |
I178L |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,528,778 (GRCm39) |
N427Y |
probably damaging |
Het |
Ncr1 |
T |
A |
7: 4,347,519 (GRCm39) |
I228N |
probably damaging |
Het |
Nefh |
A |
T |
11: 4,895,233 (GRCm39) |
Y319N |
probably damaging |
Het |
Or4a80 |
A |
C |
2: 89,582,417 (GRCm39) |
C252G |
probably damaging |
Het |
Pakap |
T |
C |
4: 57,854,848 (GRCm39) |
V120A |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,628,850 (GRCm39) |
Y699F |
probably benign |
Het |
Plekhd1 |
T |
C |
12: 80,767,362 (GRCm39) |
L250P |
probably damaging |
Het |
Reln |
A |
G |
5: 22,203,570 (GRCm39) |
V1228A |
probably benign |
Het |
Rhobtb2 |
G |
T |
14: 70,034,593 (GRCm39) |
R211S |
probably damaging |
Het |
Rps6kb1 |
T |
C |
11: 86,403,697 (GRCm39) |
I305V |
possibly damaging |
Het |
Slc12a2 |
G |
A |
18: 58,029,382 (GRCm39) |
G256E |
possibly damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,708,129 (GRCm39) |
|
probably null |
Het |
Thoc1 |
A |
G |
18: 9,962,390 (GRCm39) |
T92A |
possibly damaging |
Het |
Tmem117 |
T |
G |
15: 94,992,653 (GRCm39) |
S438A |
possibly damaging |
Het |
Ttll7 |
A |
G |
3: 146,667,465 (GRCm39) |
N777S |
probably damaging |
Het |
Ubd |
T |
A |
17: 37,506,345 (GRCm39) |
V77E |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,790,117 (GRCm39) |
S658P |
probably damaging |
Het |
Vmn1r78 |
G |
A |
7: 11,886,693 (GRCm39) |
M101I |
possibly damaging |
Het |
Wdr93 |
T |
C |
7: 79,426,974 (GRCm39) |
C638R |
probably benign |
Het |
Zfp983 |
T |
A |
17: 21,877,947 (GRCm39) |
V50D |
probably damaging |
Het |
Zhx3 |
A |
T |
2: 160,623,881 (GRCm39) |
H95Q |
probably 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 |
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 |
|
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'- TATGGCTGCCACGTTTTGC -3'
(R):5'- TGAGGAATTTCAGGTGCCC -3'
Sequencing Primer
(F):5'- CTTGAGGGTTCTGGCCTCC -3'
(R):5'- TTTCAGGTGCCCGGGCG -3'
|
Posted On |
2016-11-08 |