Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Ticam1'

471985

Institutional Source

Beutler Lab

Gene Symbol

Ticam1

Ensembl Gene

ENSMUSG00000047123

Gene Name

toll-like receptor adaptor molecule 1

Synonyms

TICAM-1, Trif

MMRRC Submission

044149-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56269319-56276786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56271703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 131 (H131N)

Ref Sequence

ENSEMBL: ENSMUSP00000055104 (fasta)

Gene Model

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

AlphaFold

Q80UF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000058136
AA Change: H131N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055104
Gene: ENSMUSG00000047123
AA Change: H131N

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

0.1199

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,343,567	Q581*	probably null	Het
Agl	A	G	3: 116,793,774	V44A	probably damaging	Het
Alpk3	T	A	7: 81,092,260	D608E	possibly damaging	Het
Aspm	C	A	1: 139,455,227		probably benign	Het
Bbs2	T	C	8: 94,068,367	N692S	probably benign	Het
Bend4	A	G	5: 67,417,818	I240T	probably benign	Het
Casp8	G	T	1: 58,833,736	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,900,940	I123N	probably damaging	Het
Ccr9	T	G	9: 123,779,434	I60M	probably benign	Het
Cd163	T	A	6: 124,326,572	W1066R	probably benign	Het
Cd226	A	T	18: 89,207,183	H68L	probably benign	Het
Cdkn3	T	A	14: 46,767,217	C79S	probably null	Het
Cnnm1	A	T	19: 43,469,723	E658V	probably benign	Het
Cog7	T	C	7: 121,956,029	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,365,760	V286E	possibly damaging	Het
Creg2	C	A	1: 39,624,954	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,699,962	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,926,223	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,788,467	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,164,089	V744A	probably benign	Het
Dlgap2	T	A	8: 14,727,128	Y124*	probably null	Het
Dnah3	T	C	7: 119,922,880	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,584	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,023,699	V347D	probably benign	Het
Gigyf2	C	T	1: 87,407,167	T294M	probably damaging	Het
Gli3	C	G	13: 15,726,162	S1378*	probably null	Het
Gm884	A	G	11: 103,542,120	S1232P	possibly damaging	Het
Gnao1	G	A	8: 93,966,999	D337N	probably benign	Het
Gp2	T	A	7: 119,449,129	Q422L	probably benign	Het
Ifit1	T	A	19: 34,648,469	M335K	possibly damaging	Het
Ism1	T	C	2: 139,678,757	S30P	probably benign	Het
Itgax	A	G	7: 128,140,447	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,725,922	A442V	probably damaging	Het
Kif13a	T	C	13: 46,771,524	I311M	probably damaging	Het
Lsm14b	T	A	2: 180,031,425	S84R	probably benign	Het
Lzts3	A	G	2: 130,636,288	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,644,762	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,165	N501I	probably damaging	Het
Mctp2	T	C	7: 72,103,177	E776G	probably damaging	Het
Mex3d	A	T	10: 80,382,587	N265K	probably damaging	Het
Myo5a	A	G	9: 75,203,833	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,704,636	M35V	probably damaging	Het
Nek4	G	A	14: 30,957,079		probably null	Het
Ngrn	T	C	7: 80,261,933		probably null	Het
Nlrp1a	T	A	11: 71,123,020	Q468L	probably benign	Het
Olfr1450	A	C	19: 12,954,531	Q314P	probably benign	Het
Olfr743	T	A	14: 50,534,198	M262K	probably damaging	Het
Phtf2	T	C	5: 20,775,934	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852	Q140*	probably null	Het
Prtg	G	A	9: 72,892,254	G778E	probably benign	Het
Pum3	T	C	19: 27,420,051	E308G	probably damaging	Het
Pwp1	T	G	10: 85,882,886	F306V	probably damaging	Het
Rab24	A	T	13: 55,321,576	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,135,898	F126L	probably benign	Het
Samd13	A	T	3: 146,680,696		probably benign	Het
Serac1	T	A	17: 6,065,049	H213L	probably benign	Het
Slc45a3	A	G	1: 131,978,073	E278G	probably damaging	Het
Slit3	C	T	11: 35,700,236	R1292C	probably damaging	Het
Slx4	A	T	16: 4,000,951		probably null	Het
Smarca4	C	A	9: 21,647,430	T631K	probably benign	Het
Snx16	C	T	3: 10,434,481	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,128,895	V140A	probably damaging	Het
Tcf12	A	T	9: 71,868,240	D409E	probably damaging	Het
Tgfbr2	G	T	9: 116,110,255	T168K	possibly damaging	Het
Ttn	C	A	2: 76,713,511	E31298*	probably null	Het
Ttn	C	A	2: 76,829,888	R7458I	possibly damaging	Het
Usp7	A	G	16: 8,712,102	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,654,180	R191*	probably null	Het
Wdfy4	T	C	14: 33,106,011	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,336,845	P3A	probably damaging	Het
Znhit6	A	G	3: 145,576,933	K21R	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
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
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'- GTATGTCCCCAACTCCAGTCTG -3'
(R):5'- TCTCTCTGGAGTCCTTGAAGATG -3'

Sequencing Primer
(F):5'- CAACTCCAGTCTGGTGTGTCAATG -3'
(R):5'- CTCTGGAGTCCTTGAAGATGAACAC -3'

Posted On

2017-03-31