Mutagenetix > Incidental Mutation

Incidental Mutation 'R1509:Ticam1'

168183

Institutional Source

Beutler Lab

Gene Symbol

Ticam1

Ensembl Gene

ENSMUSG00000047123

Gene Name

toll-like receptor adaptor molecule 1

Synonyms

TICAM-1, Trif

MMRRC Submission

039556-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56269319-56276786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56271113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 327 (S327R)

Ref Sequence

ENSEMBL: ENSMUSP00000055104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058136]

AlphaFold

Q80UF7

Predicted Effect

probably benign
Transcript: ENSMUST00000058136
AA Change: S327R

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000055104
Gene: ENSMUSG00000047123
AA Change: S327R

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: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,192,647	S132P	probably benign	Het
4930430A15Rik	A	T	2: 111,218,627	M269K	probably benign	Het
AC153895.1	T	C	6: 50,043,471	R54G	unknown	Het
Acot12	G	A	13: 91,771,875		probably null	Het
Adhfe1	T	A	1: 9,553,446	D98E	probably benign	Het
Ago2	A	G	15: 73,116,364	F594S	probably damaging	Het
Aldh18a1	A	G	19: 40,557,483	I620T	probably damaging	Het
Aspscr1	C	A	11: 120,701,516	A294D	probably damaging	Het
BC067074	A	G	13: 113,368,256	N431S	probably damaging	Het
Bod1l	C	G	5: 41,819,540	R1477T	probably damaging	Het
Ccdc18	C	A	5: 108,188,978	A741D	possibly damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap52	C	T	11: 67,938,993	V317I	probably benign	Het
Cgn	A	T	3: 94,774,258	L509Q	probably benign	Het
Crb2	A	G	2: 37,786,619	H204R	probably benign	Het
Ddx39	G	A	8: 83,719,898	V99M	probably damaging	Het
Dis3l2	T	A	1: 87,021,086	C582S	possibly damaging	Het
Dmbt1	G	A	7: 131,074,331		probably benign	Het
Dnah6	T	C	6: 73,027,442	E3846G	probably damaging	Het
Dstyk	A	G	1: 132,456,346	E655G	probably damaging	Het
Epha4	T	C	1: 77,380,886	Y825C	probably damaging	Het
Esp36	T	A	17: 38,417,282	N36I	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fem1c	A	G	18: 46,524,213	S145P	probably benign	Het
Galnt13	T	C	2: 54,733,082	I80T	probably damaging	Het
Gm10125	A	G	18: 5,583,794		noncoding transcript	Het
Gm5698	T	C	1: 30,977,647	T108A	probably benign	Het
Hipk3	A	G	2: 104,441,262	S442P	probably benign	Het
Hmcn2	T	A	2: 31,314,479	V22D	possibly damaging	Het
Hspg2	C	T	4: 137,511,241		probably benign	Het
Ide	A	G	19: 37,285,204		probably null	Het
Ifnar1	C	A	16: 91,503,496	P462Q	probably damaging	Het
Itgb2l	T	A	16: 96,426,849	I485F	probably benign	Het
Jakmip3	C	T	7: 139,027,776	R549W	possibly damaging	Het
Lrrc36	A	G	8: 105,461,129	Q680R	probably damaging	Het
Lysmd3	T	G	13: 81,669,271	H122Q	probably benign	Het
Macf1	C	A	4: 123,684,009	V61L	possibly damaging	Het
Map1b	T	C	13: 99,431,528	T1562A	unknown	Het
Map3k20	A	T	2: 72,364,624		probably benign	Het
Mroh8	A	G	2: 157,233,205	V457A	probably benign	Het
Mrpl40	T	A	16: 18,875,409		probably null	Het
Ms4a10	C	T	19: 10,964,108	V166I	probably benign	Het
Mycl	A	G	4: 123,000,307	D300G	probably damaging	Het
Naca	T	A	10: 128,043,397		probably benign	Het
Ncoa4	T	C	14: 32,173,434	S172P	probably damaging	Het
Nfatc3	T	C	8: 106,083,854	F421L	possibly damaging	Het
Nucb1	C	A	7: 45,495,225	K301N	probably benign	Het
Olfr1451	T	A	19: 12,999,451	I155N	possibly damaging	Het
Olfr366	A	G	2: 37,219,954	H155R	probably damaging	Het
Olfr629	A	T	7: 103,741,036	M68K	probably benign	Het
Panx1	A	T	9: 15,010,045	V178E	possibly damaging	Het
Pkd1l3	G	A	8: 109,640,770	V1210I	probably damaging	Het
Polr2a	A	T	11: 69,747,213	H143Q	possibly damaging	Het
Prdm12	G	A	2: 31,654,174	R263H	probably damaging	Het
Prkdc	A	C	16: 15,731,566	K1998T	probably damaging	Het
Rab11fip1	A	T	8: 27,153,023	S583T	probably damaging	Het
Rnf157	T	A	11: 116,347,095	T567S	probably benign	Het
Rp1	T	C	1: 4,347,694	K1065R	probably damaging	Het
Rp1	A	G	1: 4,348,537	I784T	probably benign	Het
Rps10	A	C	17: 27,631,208	F150V	probably benign	Het
Rrp12	A	T	19: 41,882,200	F499I	probably damaging	Het
Sez6l2	G	A	7: 126,963,363	R604H	probably damaging	Het
Slc25a21	G	T	12: 56,858,079	Q57K	probably benign	Het
Slc27a2	A	G	2: 126,553,314	T54A	possibly damaging	Het
Slc9a9	T	A	9: 95,228,958	S610T	probably benign	Het
Smc1b	A	T	15: 85,086,134	S973T	probably benign	Het
Smc6	G	A	12: 11,279,733	S164N	possibly damaging	Het
Sp1	A	G	15: 102,407,879	T32A	possibly damaging	Het
Spen	T	C	4: 141,475,635	I1894V	probably benign	Het
Spen	T	C	4: 141,475,700	K1872R	possibly damaging	Het
Stab1	C	A	14: 31,151,584		probably benign	Het
Taar7d	T	G	10: 24,028,204	F328C	probably damaging	Het
Tmem248	C	T	5: 130,229,454		probably benign	Het
Tom1	T	C	8: 75,054,631	S83P	probably damaging	Het
Txk	T	A	5: 72,699,110	Y446F	probably damaging	Het
Ubap1l	T	A	9: 65,371,955	C179S	probably benign	Het
Utrn	T	C	10: 12,455,441	E474G	possibly damaging	Het
Vmn2r14	T	C	5: 109,215,996	M685V	probably benign	Het
Vmn2r7	A	T	3: 64,716,460	Y146*	probably null	Het
Wdr1	G	A	5: 38,540,562	T220M	probably damaging	Het
Xpo7	T	C	14: 70,678,142	D726G	probably damaging	Het
Zbtb14	C	G	17: 69,387,764	I152M	probably benign	Het
Zbtb3	A	G	19: 8,803,407	D128G	probably damaging	Het
Zfp462	T	A	4: 55,007,667	D35E	probably damaging	Het
Zfp467	A	G	6: 48,438,687	S344P	possibly damaging	Het
Zfpm1	A	T	8: 122,307,546	D73V	possibly damaging	Het

Other mutations in Ticam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02160:Ticam1	APN	17	56270560	missense	possibly damaging	0.80
IGL02164:Ticam1	APN	17	56270019	missense	unknown
Lps2	UTSW	17	56269969	frame shift	probably null
Pangu	UTSW	17	56276693	critical splice donor site	probably benign
Yue	UTSW	17	56271339	missense	probably benign	0.06
R0930:Ticam1	UTSW	17	56270226	missense	unknown
R0930:Ticam1	UTSW	17	56271687	missense	probably damaging	1.00
R1837:Ticam1	UTSW	17	56270799	missense	possibly damaging	0.87
R1863:Ticam1	UTSW	17	56271436	missense	probably damaging	1.00
R1867:Ticam1	UTSW	17	56271718	missense	probably benign	0.01
R1872:Ticam1	UTSW	17	56271897	missense	probably benign	0.00
R1893:Ticam1	UTSW	17	56271894	missense	probably benign	0.36
R1980:Ticam1	UTSW	17	56271555	missense	probably damaging	0.99
R1981:Ticam1	UTSW	17	56271555	missense	probably damaging	0.99
R1982:Ticam1	UTSW	17	56271555	missense	probably damaging	0.99
R2263:Ticam1	UTSW	17	56271888	missense	possibly damaging	0.95
R2513:Ticam1	UTSW	17	56271612	missense	possibly damaging	0.61
R4294:Ticam1	UTSW	17	56271339	missense	probably benign	0.06
R4888:Ticam1	UTSW	17	56271642	missense	probably damaging	0.98
R4982:Ticam1	UTSW	17	56272020	missense	probably benign	0.10
R5396:Ticam1	UTSW	17	56271117	missense	probably benign	0.02
R5604:Ticam1	UTSW	17	56271756	missense	probably benign	0.13
R5641:Ticam1	UTSW	17	56270629	frame shift	probably null
R5647:Ticam1	UTSW	17	56270629	frame shift	probably null
R5648:Ticam1	UTSW	17	56270629	frame shift	probably null
R5657:Ticam1	UTSW	17	56270629	frame shift	probably null
R5770:Ticam1	UTSW	17	56270629	frame shift	probably null
R5771:Ticam1	UTSW	17	56270629	frame shift	probably null
R5964:Ticam1	UTSW	17	56271703	missense	probably damaging	0.99
R5974:Ticam1	UTSW	17	56271178	missense	probably benign
R6217:Ticam1	UTSW	17	56270730	missense	probably damaging	1.00
R6983:Ticam1	UTSW	17	56269900	missense	probably benign	0.00
R6984:Ticam1	UTSW	17	56269900	missense	probably benign	0.00
R6985:Ticam1	UTSW	17	56269900	missense	probably benign	0.00
R6986:Ticam1	UTSW	17	56269900	missense	probably benign	0.00
R6987:Ticam1	UTSW	17	56269900	missense	probably benign	0.00
R6988:Ticam1	UTSW	17	56269900	missense	probably benign	0.00
R6989:Ticam1	UTSW	17	56269900	missense	probably benign	0.00
R7029:Ticam1	UTSW	17	56271154	missense	possibly damaging	0.51
R7684:Ticam1	UTSW	17	56269984	missense	unknown
R7755:Ticam1	UTSW	17	56270182	missense	unknown
R7885:Ticam1	UTSW	17	56271067	missense	probably benign	0.04
R8021:Ticam1	UTSW	17	56270089	missense	unknown
R8414:Ticam1	UTSW	17	56271340	missense	probably benign	0.00
R8822:Ticam1	UTSW	17	56271444	missense	probably damaging	1.00
R9442:Ticam1	UTSW	17	56270428	missense	probably benign	0.00
R9521:Ticam1	UTSW	17	56271388	missense	probably benign	0.07
V8831:Ticam1	UTSW	17	56269969	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ATCAGCCCTGGCATGGATAACCAC -3'
(R):5'- ACCACACGAAATTAGCGTTCCAGAG -3'

Sequencing Primer
(F):5'- GTTTCTGAGTGGTCCAAAACAG -3'
(R):5'- ACAAGTGTCCACTGTCCCAT -3'

Posted On

2014-04-13