Incidental Mutation 'R6983:Ticam1'
ID 542815
Institutional Source Beutler Lab
Gene Symbol Ticam1
Ensembl Gene ENSMUSG00000047123
Gene Name TIR domain containing adaptor molecule 1
Synonyms Trif, TICAM-1
MMRRC Submission 045090-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6983 (G1)
Quality Score 225.009
Status 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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (65/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,953,686 (GRCm39) V530A probably benign Het
Adgrg6 T C 10: 14,307,439 (GRCm39) N816D probably damaging Het
Aebp2 T C 6: 140,583,389 (GRCm39) F288L possibly damaging Het
Afdn T C 17: 14,101,583 (GRCm39) S1024P probably damaging Het
Akap6 A C 12: 52,934,436 (GRCm39) K643Q probably damaging Het
Atg2a A T 19: 6,310,070 (GRCm39) D1751V probably damaging Het
Best2 T A 8: 85,736,405 (GRCm39) I253F probably benign Het
Bmp1 G T 14: 70,745,647 (GRCm39) P55T probably damaging Het
C1s1 C A 6: 124,517,855 (GRCm39) V42F possibly damaging Het
Ccdc115 A G 1: 34,478,122 (GRCm39) probably null Het
Cdc42bpg C T 19: 6,371,698 (GRCm39) P1326S probably damaging Het
Cdhr3 G A 12: 33,092,379 (GRCm39) T744I probably benign Het
Cit T G 5: 116,132,150 (GRCm39) L1745R probably damaging Het
Commd6 A T 14: 101,874,488 (GRCm39) S39T probably damaging Het
Crot T G 5: 9,028,280 (GRCm39) Y223S probably benign Het
Crybg1 G T 10: 43,875,338 (GRCm39) A590D probably damaging Het
Cwf19l2 G A 9: 3,477,817 (GRCm39) E841K probably damaging Het
Dennd4c T C 4: 86,717,730 (GRCm39) Y576H probably damaging Het
Diaph1 A T 18: 38,022,822 (GRCm39) V749E probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
F5 A T 1: 164,021,698 (GRCm39) D1391V probably damaging Het
Foxf2 T A 13: 31,811,180 (GRCm39) M373K probably benign Het
Fstl1 A T 16: 37,651,980 (GRCm39) E287D probably benign Het
Gltpd2 T C 11: 70,411,110 (GRCm39) Y134H probably damaging Het
Hemgn T A 4: 46,395,997 (GRCm39) H413L possibly damaging Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Hykk T C 9: 54,853,793 (GRCm39) S372P probably benign Het
Inava A G 1: 136,147,894 (GRCm39) S353P possibly damaging Het
Ints10 T C 8: 69,246,703 (GRCm39) V11A probably damaging Het
Khdrbs1 A G 4: 129,614,635 (GRCm39) V306A probably benign Het
Lamtor2 G A 3: 88,460,146 (GRCm39) Q9* probably null Het
Lonp2 T A 8: 87,350,876 (GRCm39) V22E probably damaging Het
Mad1l1 T C 5: 140,179,739 (GRCm39) E383G probably damaging Het
Man2b1 T A 8: 85,817,700 (GRCm39) probably null Het
Mtch1 T C 17: 29,557,750 (GRCm39) I243V probably damaging Het
Myo18a T A 11: 77,736,341 (GRCm39) M1546K probably benign Het
Ntf3 T C 6: 126,078,808 (GRCm39) T233A probably damaging Het
Omg T C 11: 79,392,764 (GRCm39) S365G probably benign Het
Or52ad1 C T 7: 102,996,022 (GRCm39) V38I probably benign Het
Otol1 T A 3: 69,935,374 (GRCm39) N455K probably damaging Het
Pakap T A 4: 57,709,973 (GRCm39) V306D probably damaging Het
Pde4dip A T 3: 97,625,552 (GRCm39) Y1349N probably damaging Het
Pitpnm2 A G 5: 124,271,469 (GRCm39) L368P probably damaging Het
Pnpla8 T A 12: 44,330,030 (GRCm39) I194K possibly damaging Het
Podn T C 4: 107,881,470 (GRCm39) probably null Het
Potefam1 A G 2: 111,058,595 (GRCm39) probably null Het
Pramel6 A T 2: 87,339,923 (GRCm39) E229V possibly damaging Het
Ptpro C T 6: 137,426,915 (GRCm39) P262L probably damaging Het
Rnf122 A T 8: 31,608,488 (GRCm39) T19S probably benign Het
Shank2 T A 7: 143,635,585 (GRCm39) Y320N possibly damaging Het
Slc2a9 A C 5: 38,549,064 (GRCm39) I243S probably damaging Het
Slc5a6 A T 5: 31,197,749 (GRCm39) M130K probably benign Het
Stx5a A G 19: 8,732,533 (GRCm39) probably benign Het
Tbr1 G T 2: 61,642,079 (GRCm39) G185V probably damaging Het
Tg A G 15: 66,565,207 (GRCm39) D1183G probably benign Het
Thbs1 A T 2: 117,950,433 (GRCm39) I689F probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trub2 A T 2: 29,677,796 (GRCm39) probably benign Het
Ttn A G 2: 76,597,306 (GRCm39) V19869A probably damaging Het
Tufm T C 7: 126,088,607 (GRCm39) V303A possibly damaging Het
Vezf1 T C 11: 87,964,145 (GRCm39) I99T possibly damaging Het
Vmn2r1 T C 3: 63,989,118 (GRCm39) V19A probably benign Het
Xpc C T 6: 91,481,005 (GRCm39) R289K probably damaging Het
Zfp811 T A 17: 33,016,406 (GRCm39) K545* probably null Het
Zmiz2 G A 11: 6,352,413 (GRCm39) D623N probably damaging Het
Other mutations in Ticam1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGTCTCAAGCTGGGTCCAAC -3'
(R):5'- TCCTCAGGGTGGTACTCCAG -3'

Sequencing Primer
(F):5'- TGGGTCCAACTAATAGCCACTGTG -3'
(R):5'- CAGGGTGGTACTCCAGTTTTCC -3'
Posted On 2018-11-28