Incidental Mutation 'R5641:Ticam1'
| ID |
440697 |
| 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 # |
R5641 (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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,289,877 (GRCm39) |
M1398L |
probably benign |
Het |
| Acad12 |
A |
G |
5: 121,742,084 (GRCm39) |
|
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,693,293 (GRCm39) |
I209V |
probably benign |
Het |
| Alkal2 |
G |
A |
12: 30,937,264 (GRCm39) |
|
probably null |
Het |
| Aqr |
A |
G |
2: 113,979,515 (GRCm39) |
F307L |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,595,639 (GRCm39) |
L932P |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,013,638 (GRCm38) |
M113T |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,134,038 (GRCm39) |
M4L |
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,480,364 (GRCm39) |
S2711R |
probably damaging |
Het |
| Bzw1 |
A |
T |
1: 58,436,883 (GRCm39) |
Q70L |
probably damaging |
Het |
| Cd34 |
T |
A |
1: 194,630,276 (GRCm39) |
I70N |
probably benign |
Het |
| Chac1 |
A |
G |
2: 119,181,999 (GRCm39) |
Y39C |
probably damaging |
Het |
| Col6a2 |
G |
C |
10: 76,449,112 (GRCm39) |
P275A |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,176,627 (GRCm39) |
N452I |
probably damaging |
Het |
| Ctrc |
T |
C |
4: 141,566,094 (GRCm39) |
N188S |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,307,924 (GRCm39) |
|
probably null |
Het |
| Etl4 |
GGGGAAGAACCGG |
GGG |
2: 20,811,273 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
T |
A |
19: 37,576,081 (GRCm39) |
|
probably null |
Het |
| Gm5616 |
T |
A |
9: 48,361,716 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7535 |
T |
C |
17: 18,131,788 (GRCm39) |
|
probably benign |
Het |
| Hnrnpr |
T |
C |
4: 136,059,798 (GRCm39) |
S200P |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,767 (GRCm39) |
N121S |
unknown |
Het |
| Il21 |
T |
A |
3: 37,281,917 (GRCm39) |
K76* |
probably null |
Het |
| Jup |
T |
A |
11: 100,267,632 (GRCm39) |
T564S |
possibly damaging |
Het |
| Kcns2 |
G |
C |
15: 34,839,199 (GRCm39) |
R187S |
possibly damaging |
Het |
| Klhl18 |
G |
A |
9: 110,275,896 (GRCm39) |
T84M |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,882 (GRCm39) |
L2280M |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,263,756 (GRCm39) |
I226T |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,396,196 (GRCm39) |
Y126N |
possibly damaging |
Het |
| Nlrp4a |
T |
A |
7: 26,149,589 (GRCm39) |
C399S |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,913,352 (GRCm39) |
K54E |
probably damaging |
Het |
| Nsun2 |
T |
A |
13: 69,771,368 (GRCm39) |
V326E |
probably benign |
Het |
| Oosp3 |
T |
C |
19: 11,674,537 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
A |
G |
14: 50,272,746 (GRCm39) |
I38T |
probably benign |
Het |
| Pcdhga9 |
T |
C |
18: 37,871,301 (GRCm39) |
S377P |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,368,300 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
A |
T |
2: 60,345,328 (GRCm39) |
W343R |
probably damaging |
Het |
| Prox2 |
A |
G |
12: 85,134,721 (GRCm39) |
V520A |
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,771,008 (GRCm39) |
|
probably null |
Het |
| Rif1 |
A |
C |
2: 52,011,170 (GRCm39) |
R2412S |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,131,397 (GRCm39) |
L1517P |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,594,199 (GRCm39) |
N65S |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 110,038,108 (GRCm39) |
E399G |
probably damaging |
Het |
| Slc36a4 |
A |
C |
9: 15,640,098 (GRCm39) |
|
probably null |
Het |
| Slco1a1 |
A |
T |
6: 141,885,695 (GRCm39) |
M110K |
probably damaging |
Het |
| Stat5a |
T |
A |
11: 100,767,634 (GRCm39) |
C401S |
probably benign |
Het |
| Tmem150c |
T |
C |
5: 100,231,523 (GRCm39) |
T151A |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,862,179 (GRCm39) |
M173K |
probably damaging |
Het |
| Vmn1r188 |
A |
T |
13: 22,272,342 (GRCm39) |
S99C |
probably damaging |
Het |
| Vmn2r70 |
C |
T |
7: 85,208,572 (GRCm39) |
C635Y |
probably damaging |
Het |
| Zfp644 |
T |
C |
5: 106,767,461 (GRCm39) |
K24E |
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 |
|
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 |
|
V8831:Ticam1
|
UTSW |
17 |
56,576,969 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATATGGCTGCCACGTTTTGC -3'
(R):5'- TGTGAGGAATTTCAGGTGCCC -3'
Sequencing Primer
(F):5'- CTTGAGGGTTCTGGCCTCC -3'
(R):5'- TTTCAGGTGCCCGGGCG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation