Mutagenetix > Incidental Mutations

Incidental Mutation 'R0930:Ticam1'

80836

Institutional Source

Beutler Lab

Gene Symbol

Ticam1

Ensembl Gene

ENSMUSG00000047123

Gene Name

toll-like receptor adaptor molecule 1

Synonyms

TICAM-1, Trif

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56269319-56276786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56271687 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 136 (L136P)

Ref Sequence

ENSEMBL: ENSMUSP00000055104 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000058136
AA Change: L136P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055104
Gene: ENSMUSG00000047123
AA Change: L136P

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.5%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	T	7: 28,140,130	Y456F	probably damaging	Het
Abcg8	G	T	17: 84,683,277	V16L	probably benign	Het
Adamts18	A	T	8: 113,705,396		probably null	Het
Agpat4	A	T	17: 12,198,836	E88V	probably damaging	Het
Ahcyl2	A	C	6: 29,870,628		probably null	Het
Ankrd2	T	A	19: 42,043,853		probably null	Het
Anxa6	A	T	11: 54,994,388		probably null	Het
Bpi	A	G	2: 158,261,426	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,675,896	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,365,862	N1045D	possibly damaging	Het
Caprin2	T	C	6: 148,883,511		probably null	Het
Cars	T	A	7: 143,570,570	H373L	probably damaging	Het
Ccdc191	G	T	16: 43,931,255	G316V	probably damaging	Het
Cd244	T	A	1: 171,577,233		probably null	Het
Ces1a	C	T	8: 93,022,416	D456N	probably benign	Het
Cul3	A	T	1: 80,290,118	M102K	probably damaging	Het
Dact1	A	G	12: 71,318,460	R672G	probably damaging	Het
Dapk1	T	C	13: 60,757,448	F991L	probably benign	Het
Dlg5	G	A	14: 24,135,577	P1920L	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Exosc4	A	G	15: 76,327,534	I14M	probably benign	Het
Ezr	G	A	17: 6,753,999	R180*	probably null	Het
Fyb	A	T	15: 6,638,828	I501F	probably damaging	Het
Hdac5	G	T	11: 102,204,646	P383Q	probably benign	Het
Hmx3	A	T	7: 131,543,084	H41L	probably benign	Het
Krt36	A	G	11: 100,103,399	F284S	probably damaging	Het
L1td1	A	G	4: 98,737,625	N686D	probably damaging	Het
Lsamp	G	A	16: 41,888,964	G86S	probably benign	Het
Myh8	A	G	11: 67,305,998	E1819G	possibly damaging	Het
Myo7a	A	T	7: 98,098,256	I129N	probably damaging	Het
Nckap1	A	T	2: 80,554,249	C114S	probably benign	Het
Nphp4	T	G	4: 152,538,055	L599R	probably benign	Het
Nrcam	A	G	12: 44,549,884	I301V	probably benign	Het
Olfr1415	A	G	1: 92,491,405	S117P	possibly damaging	Het
Os9	C	T	10: 127,097,055	R547Q	probably damaging	Het
Oxtr	A	T	6: 112,489,637		probably null	Het
Pgm1	A	T	5: 64,112,147	I526F	possibly damaging	Het
Plekho2	T	C	9: 65,556,823	D248G	possibly damaging	Het
Rab43	A	T	6: 87,792,770	Y151*	probably null	Het
Rbm19	A	G	5: 120,126,204	E343G	probably benign	Het
Rel	A	T	11: 23,742,439	D531E	probably benign	Het
Rfx4	T	A	10: 84,868,427	V262E	probably damaging	Het
Ryr3	A	G	2: 112,841,833	L1431P	probably damaging	Het
Sdk2	A	G	11: 113,838,445	I1102T	probably benign	Het
Sema3d	A	C	5: 12,463,216	D51A	possibly damaging	Het
Sh2d4a	T	A	8: 68,335,123	F294I	probably damaging	Het
Slc3a1	A	G	17: 85,059,743	T453A	probably benign	Het
Sod1	A	G	16: 90,225,183	D93G	probably benign	Het
Sptan1	A	G	2: 30,016,028	N1662S	probably damaging	Het
Stxbp4	A	C	11: 90,621,700	M1R	probably null	Het
Tbc1d7	A	T	13: 43,165,336	Y108*	probably null	Het
Tjap1	A	C	17: 46,258,529	W512G	possibly damaging	Het
Unc80	A	T	1: 66,510,641	Q686L	possibly damaging	Het
Wdr45b	A	T	11: 121,330,214	F213I	probably damaging	Het
Xdh	A	C	17: 73,923,082	W285G	probably benign	Het
Zfp646	C	T	7: 127,883,810	Q1500*	probably null	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	56271576	small deletion
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
R1509:Ticam1	UTSW	17	56271113	missense	probably benign	0.43
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
V8831:Ticam1	UTSW	17	56269969	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TATGTCCCCAACTCCAGTCTGGTG -3'
(R):5'- TGTTCAGGCAGCCAGGAGTCAAAG -3'

Sequencing Primer
(F):5'- TGTGTCAATGGGACGAGGC -3'
(R):5'- GGAGTCAAAGCTTCTCCATGC -3'

Posted On

2013-11-07