Incidental Mutation 'R5647:Ticam1'
| ID |
441246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ticam1
|
| Ensembl Gene |
ENSMUSG00000047123 |
| Gene Name |
TIR domain containing adaptor molecule 1 |
| Synonyms |
Trif, TICAM-1 |
| MMRRC Submission |
043295-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5647 (G1)
|
| Quality Score |
217 |
|
Status
|
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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
95% (55/58) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010L04Rik |
T |
C |
7: 82,505,606 (GRCm39) |
|
noncoding transcript |
Het |
| 9330159F19Rik |
A |
T |
10: 29,101,250 (GRCm39) |
D541V |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,218,597 (GRCm39) |
I262V |
probably damaging |
Het |
| Acvr1c |
T |
A |
2: 58,185,976 (GRCm39) |
D169V |
probably damaging |
Het |
| Aldh16a1 |
A |
G |
7: 44,803,889 (GRCm39) |
V6A |
probably benign |
Het |
| Brd10 |
A |
G |
19: 29,731,210 (GRCm39) |
S601P |
possibly damaging |
Het |
| Cd36 |
A |
C |
5: 18,019,763 (GRCm39) |
S113A |
probably damaging |
Het |
| Cdt1 |
G |
T |
8: 123,296,947 (GRCm39) |
R247L |
possibly damaging |
Het |
| Ces4a |
G |
A |
8: 105,872,712 (GRCm39) |
V322M |
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,364,266 (GRCm39) |
T157S |
possibly damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,010 (GRCm39) |
|
probably benign |
Het |
| Ctr9 |
G |
T |
7: 110,654,751 (GRCm39) |
R1094L |
unknown |
Het |
| Cyld |
A |
T |
8: 89,461,554 (GRCm39) |
I664L |
probably benign |
Het |
| Dvl2 |
C |
T |
11: 69,900,275 (GRCm39) |
P690S |
possibly damaging |
Het |
| Fbxo7 |
A |
C |
10: 85,864,974 (GRCm39) |
E94D |
probably damaging |
Het |
| Fstl5 |
A |
C |
3: 76,496,399 (GRCm39) |
K387N |
probably damaging |
Het |
| Gm9845 |
A |
C |
3: 39,412,520 (GRCm39) |
|
noncoding transcript |
Het |
| Hk1 |
T |
C |
10: 62,111,523 (GRCm39) |
D746G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,468,391 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,350,258 (GRCm39) |
A705T |
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,508,300 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,952,067 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
A |
11: 115,762,337 (GRCm39) |
L1219Q |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Or4g16 |
G |
T |
2: 111,137,392 (GRCm39) |
A281S |
possibly damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,553 (GRCm39) |
I32N |
probably damaging |
Het |
| Or5b113 |
T |
C |
19: 13,342,541 (GRCm39) |
V183A |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,221,675 (GRCm39) |
T1984A |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,593,588 (GRCm39) |
L251P |
probably benign |
Het |
| Plin1 |
T |
A |
7: 79,371,320 (GRCm39) |
D468V |
probably benign |
Het |
| Pmp2 |
A |
G |
3: 10,248,845 (GRCm39) |
V12A |
probably benign |
Het |
| Rnf19a |
T |
A |
15: 36,266,109 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
G |
A |
9: 45,779,344 (GRCm39) |
Q469* |
probably null |
Het |
| Rrp1b |
T |
G |
17: 32,274,985 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
| Sema3e |
A |
T |
5: 14,275,567 (GRCm39) |
E224V |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,385,720 (GRCm39) |
S5P |
probably damaging |
Het |
| Stab1 |
A |
C |
14: 30,879,397 (GRCm39) |
Y694* |
probably null |
Het |
| Stambpl1 |
T |
C |
19: 34,211,686 (GRCm39) |
L249P |
probably benign |
Het |
| Thap4 |
A |
T |
1: 93,642,665 (GRCm39) |
H515Q |
probably damaging |
Het |
| Uaca |
A |
G |
9: 60,779,380 (GRCm39) |
R1256G |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,489,881 (GRCm39) |
N348Y |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,314 (GRCm39) |
I85T |
probably benign |
Het |
| Vps9d1 |
A |
T |
8: 123,975,598 (GRCm39) |
L149Q |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,809,694 (GRCm39) |
I153N |
probably damaging |
Het |
| Zfp207 |
G |
A |
11: 80,283,959 (GRCm39) |
S293N |
possibly damaging |
Het |
| Zfp346 |
A |
G |
13: 55,270,170 (GRCm39) |
D198G |
probably damaging |
Het |
| Zfp953 |
A |
T |
13: 67,491,536 (GRCm39) |
C139S |
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 |
|
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 |
|
|
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'- TATGGCTGCCACGTTTTGCC -3'
(R):5'- TGTGAGGAATTTCAGGTGCC -3'
Sequencing Primer
(F):5'- CTTGAGGGTTCTGGCCTCC -3'
(R):5'- AATTTCAGGTGCCCGGGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation