Incidental Mutation 'R6986:Ticam1'
ID |
543000 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ticam1
|
Ensembl Gene |
ENSMUSG00000047123 |
Gene Name |
TIR domain containing adaptor molecule 1 |
Synonyms |
Trif, TICAM-1 |
MMRRC Submission |
045093-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6986 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
56576462-56583767 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 56576900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 732
(E732K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058136]
|
AlphaFold |
Q80UF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058136
AA Change: E732K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000055104 Gene: ENSMUSG00000047123 AA Change: E732K
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy9 |
T |
C |
16: 4,129,441 (GRCm39) |
N482D |
probably damaging |
Het |
Agbl3 |
A |
G |
6: 34,816,387 (GRCm39) |
K766E |
probably benign |
Het |
Aldh3a1 |
T |
A |
11: 61,105,077 (GRCm39) |
I154N |
probably damaging |
Het |
Cdca2 |
C |
T |
14: 67,932,446 (GRCm39) |
V486I |
probably benign |
Het |
Celf3 |
G |
C |
3: 94,395,024 (GRCm39) |
A313P |
possibly damaging |
Het |
Cgrrf1 |
T |
C |
14: 47,069,586 (GRCm39) |
|
probably benign |
Het |
Chd7 |
T |
A |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
Chrna5 |
T |
A |
9: 54,913,741 (GRCm39) |
M429K |
possibly damaging |
Het |
Cux2 |
A |
T |
5: 122,006,642 (GRCm39) |
L876Q |
possibly damaging |
Het |
Cyb5rl |
T |
A |
4: 106,928,073 (GRCm39) |
S3T |
probably benign |
Het |
Ehd4 |
A |
T |
2: 119,927,571 (GRCm39) |
M321K |
probably damaging |
Het |
Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
Endod1 |
T |
C |
9: 14,268,606 (GRCm39) |
E293G |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,932,631 (GRCm39) |
T1434I |
probably damaging |
Het |
Flrt2 |
T |
A |
12: 95,747,459 (GRCm39) |
I599N |
probably damaging |
Het |
Gm6370 |
T |
A |
5: 146,430,398 (GRCm39) |
|
probably null |
Het |
Gm7247 |
T |
C |
14: 51,602,832 (GRCm39) |
M56T |
possibly damaging |
Het |
H3c8 |
A |
G |
13: 23,719,603 (GRCm39) |
|
probably benign |
Het |
Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
Ints8 |
T |
C |
4: 11,204,474 (GRCm39) |
Y994C |
probably damaging |
Het |
Irf1 |
A |
G |
11: 53,664,966 (GRCm39) |
T165A |
probably damaging |
Het |
Lgr6 |
G |
T |
1: 134,921,694 (GRCm39) |
Q217K |
possibly damaging |
Het |
Lrrc36 |
T |
C |
8: 106,185,079 (GRCm39) |
S619P |
probably damaging |
Het |
Morn4 |
T |
C |
19: 42,066,453 (GRCm39) |
N45D |
possibly damaging |
Het |
Mtarc2 |
T |
C |
1: 184,573,460 (GRCm39) |
H53R |
probably benign |
Het |
Mtmr3 |
T |
C |
11: 4,439,692 (GRCm39) |
T583A |
probably damaging |
Het |
Ncdn |
A |
G |
4: 126,641,022 (GRCm39) |
Y493H |
probably damaging |
Het |
Nckap1 |
T |
A |
2: 80,350,911 (GRCm39) |
Y726F |
probably benign |
Het |
Optc |
T |
A |
1: 133,825,702 (GRCm39) |
M275L |
probably benign |
Het |
Or2w25 |
A |
G |
11: 59,504,924 (GRCm39) |
K378R |
possibly damaging |
Het |
Or6c69c |
G |
A |
10: 129,911,199 (GRCm39) |
V307M |
possibly damaging |
Het |
Perm1 |
A |
T |
4: 156,302,976 (GRCm39) |
K507* |
probably null |
Het |
Pgbd5 |
C |
T |
8: 125,111,212 (GRCm39) |
E160K |
possibly damaging |
Het |
Polr2k |
C |
A |
15: 36,175,181 (GRCm39) |
P14T |
probably benign |
Het |
Ppp2r3d |
A |
T |
9: 124,439,080 (GRCm38) |
Y112* |
probably null |
Het |
Pramel14 |
T |
A |
4: 143,719,888 (GRCm39) |
D159V |
probably damaging |
Het |
Rnase9 |
T |
C |
14: 51,276,537 (GRCm39) |
N147S |
probably benign |
Het |
Rnls |
C |
T |
19: 33,359,781 (GRCm39) |
G11D |
probably damaging |
Het |
Sbf2 |
T |
C |
7: 109,929,822 (GRCm39) |
T333A |
probably damaging |
Het |
Scn3a |
A |
T |
2: 65,338,962 (GRCm39) |
N572K |
probably damaging |
Het |
Serinc3 |
A |
G |
2: 163,469,891 (GRCm39) |
L319P |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,901,054 (GRCm39) |
D871G |
probably damaging |
Het |
Sf3b2 |
T |
C |
19: 5,329,923 (GRCm39) |
T661A |
probably benign |
Het |
Sgsm2 |
T |
A |
11: 74,782,867 (GRCm39) |
R30W |
probably damaging |
Het |
Sh3tc1 |
A |
G |
5: 35,881,288 (GRCm39) |
S52P |
probably benign |
Het |
Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
Snrpa |
A |
T |
7: 26,892,389 (GRCm39) |
M57K |
probably damaging |
Het |
Spata31f3 |
A |
G |
4: 42,868,696 (GRCm39) |
V309A |
possibly damaging |
Het |
Srbd1 |
A |
T |
17: 86,292,650 (GRCm39) |
I973N |
probably damaging |
Het |
Srp72 |
T |
A |
5: 77,142,723 (GRCm39) |
S428T |
probably benign |
Het |
Ss18l2 |
A |
G |
9: 121,541,671 (GRCm39) |
Y50C |
probably damaging |
Het |
St14 |
A |
G |
9: 31,007,845 (GRCm39) |
L578P |
probably damaging |
Het |
Tmc1 |
T |
C |
19: 20,801,647 (GRCm39) |
N460D |
probably benign |
Het |
Tnni3k |
C |
T |
3: 154,667,501 (GRCm39) |
G280R |
probably damaging |
Het |
Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
Trpc3 |
A |
G |
3: 36,709,165 (GRCm39) |
|
probably null |
Het |
Tshr |
C |
T |
12: 91,500,731 (GRCm39) |
A152V |
probably damaging |
Het |
Tuft1 |
G |
A |
3: 94,521,461 (GRCm39) |
P358S |
probably damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,816,340 (GRCm39) |
S672T |
probably damaging |
Het |
Vmn2r83 |
G |
T |
10: 79,316,093 (GRCm39) |
E496D |
probably benign |
Het |
Vmn2r91 |
A |
G |
17: 18,356,271 (GRCm39) |
N646S |
probably benign |
Het |
Zfp9 |
A |
G |
6: 118,441,426 (GRCm39) |
V412A |
possibly damaging |
Het |
Zmynd8 |
G |
T |
2: 165,675,335 (GRCm39) |
H273N |
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 |
|
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 |
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'- GGTCTCAAGCTGGGTCCAAC -3'
(R):5'- TCCTCAGGGTGGTACTCCAG -3'
Sequencing Primer
(F):5'- TGGGTCCAACTAATAGCCACTGTG -3'
(R):5'- CAGGGTGGTACTCCAGTTTTCC -3'
|
Posted On |
2018-11-28 |