Incidental Mutation 'V8831:Ticam1'
| ID |
66996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ticam1
|
| Ensembl Gene |
ENSMUSG00000047123 |
| Gene Name |
TIR domain containing adaptor molecule 1 |
| Synonyms |
Trif, TICAM-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
V8831 ()
of strain
710
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56576462-56583767 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TC to T
at 56576969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
at position 708
(708)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058136]
|
| AlphaFold |
Q80UF7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058136
AA Change: 708
|
| SMART Domains |
Protein: ENSMUSP00000055104
Gene: ENSMUSG00000047123
AA Change: 708
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsa1 |
A |
G |
12: 87,316,697 (GRCm39) |
N107S |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,347,371 (GRCm39) |
I690V |
probably benign |
Het |
| Bard1 |
G |
A |
1: 71,127,376 (GRCm39) |
P78S |
probably damaging |
Het |
| Ccar1 |
G |
A |
10: 62,583,185 (GRCm39) |
T976I |
unknown |
Het |
| Cdc7 |
T |
A |
5: 107,116,776 (GRCm39) |
N50K |
probably benign |
Het |
| Cep85 |
C |
T |
4: 133,883,380 (GRCm39) |
E170K |
possibly damaging |
Het |
| Cpsf2 |
C |
T |
12: 101,969,400 (GRCm39) |
R757C |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,321,092 (GRCm39) |
D239E |
probably damaging |
Het |
| Dnah7b |
T |
G |
1: 46,412,458 (GRCm39) |
Y4022* |
probably null |
Het |
| Elmo3 |
A |
G |
8: 106,033,693 (GRCm39) |
N179S |
probably benign |
Het |
| H2bc11 |
G |
C |
13: 22,227,451 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,328,216 (GRCm39) |
Q89L |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,459,365 (GRCm39) |
I327T |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,287,380 (GRCm39) |
L157Q |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,059,878 (GRCm39) |
D656N |
probably benign |
Het |
| Lrrc72 |
G |
T |
12: 36,258,656 (GRCm39) |
T67K |
possibly damaging |
Het |
| Map2 |
T |
G |
1: 66,455,004 (GRCm39) |
I1298S |
probably damaging |
Het |
| Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
| Ndst1 |
G |
A |
18: 60,835,999 (GRCm39) |
A428V |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Or2w1b |
T |
C |
13: 21,300,173 (GRCm39) |
Y104H |
possibly damaging |
Het |
| Or5k14 |
G |
T |
16: 58,693,438 (GRCm39) |
T25K |
probably benign |
Het |
| Or5p4 |
C |
T |
7: 107,680,742 (GRCm39) |
A247V |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,334,119 (GRCm39) |
V170A |
probably damaging |
Het |
| Rfx6 |
G |
A |
10: 51,594,304 (GRCm39) |
|
probably null |
Het |
| Shprh |
G |
A |
10: 11,062,606 (GRCm39) |
D1238N |
probably damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,772,445 (GRCm38) |
M179T |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,398,262 (GRCm39) |
I676F |
possibly damaging |
Het |
| Smoc1 |
A |
G |
12: 81,215,029 (GRCm39) |
D305G |
probably damaging |
Het |
| Spdef |
C |
T |
17: 27,937,051 (GRCm39) |
R184H |
probably damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,371,497 (GRCm39) |
A535T |
probably benign |
Het |
| Tcp11l1 |
C |
G |
2: 104,515,829 (GRCm39) |
V345L |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,248,578 (GRCm39) |
Y177F |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,054,533 (GRCm39) |
Y83N |
probably benign |
Het |
| Vmn2r30 |
G |
A |
7: 7,337,148 (GRCm39) |
R163C |
probably benign |
Het |
| Xirp1 |
T |
G |
9: 120,016,907 (GRCm38) |
Q970P |
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2013-08-20 |
Incidental Mutation