Mutagenetix > Incidental Mutation

Incidental Mutation 'R6989:Ticam1'

543170

Institutional Source

Beutler Lab

Gene Symbol

Ticam1

Ensembl Gene

ENSMUSG00000047123

Gene Name

TIR domain containing adaptor molecule 1

Synonyms

Trif, TICAM-1

MMRRC Submission

045095-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6989 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

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

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	C	T	11: 3,840,076 (GRCm39)	R107H	probably damaging	Het
4930438A08Rik	T	C	11: 58,178,228 (GRCm39)	V96A	possibly damaging	Het
Abcc2	A	G	19: 43,820,611 (GRCm39)	D1370G	probably damaging	Het
Abcc9	T	A	6: 142,634,707 (GRCm39)	N186Y	probably damaging	Het
Adcy7	T	C	8: 89,035,414 (GRCm39)	V106A	probably benign	Het
Adgra3	A	G	5: 50,164,226 (GRCm39)	F251S	probably damaging	Het
Akr1c6	T	A	13: 4,499,045 (GRCm39)	I33N	probably damaging	Het
Alk	A	C	17: 72,204,947 (GRCm39)	M1075R	probably benign	Het
Amh	A	G	10: 80,641,338 (GRCm39)	Q86R	probably benign	Het
Aox1	T	C	1: 58,124,611 (GRCm39)	Y951H	probably damaging	Het
Arhgap26	G	T	18: 39,232,682 (GRCm39)	R119L	probably damaging	Het
Arl8a	A	G	1: 135,074,735 (GRCm39)	K7R	probably benign	Het
Birc6	T	G	17: 74,937,984 (GRCm39)	S2638A	probably benign	Het
Ccdc162	T	G	10: 41,457,349 (GRCm39)	Q256H	probably damaging	Het
Cenpe	T	A	3: 134,940,888 (GRCm39)	L679Q	probably damaging	Het
Cpa5	T	A	6: 30,625,891 (GRCm39)	H203Q	probably benign	Het
Cpne9	A	T	6: 113,277,544 (GRCm39)	D421V	possibly damaging	Het
Cux1	A	T	5: 136,308,502 (GRCm39)	C1212*	probably null	Het
Dock9	G	A	14: 121,864,791 (GRCm39)	H736Y	probably damaging	Het
Dpp3	A	T	19: 4,971,195 (GRCm39)	V214E	probably damaging	Het
Dtx3	T	C	10: 127,028,746 (GRCm39)	E161G	probably benign	Het
Ect2	A	T	3: 27,156,637 (GRCm39)	Y774*	probably null	Het
Enpep	G	T	3: 129,074,599 (GRCm39)	P717H	probably damaging	Het
Erich3	A	T	3: 154,469,314 (GRCm39)		probably benign	Het
Fbp2	C	T	13: 63,005,991 (GRCm39)	A41T	probably damaging	Het
Fbxl21	T	C	13: 56,674,874 (GRCm39)	V75A	probably damaging	Het
Fkbp5	C	T	17: 28,634,919 (GRCm39)	D197N	probably benign	Het
Fsip2	A	G	2: 82,807,298 (GRCm39)	T1206A	probably benign	Het
Ggt7	A	G	2: 155,345,380 (GRCm39)	V156A	probably benign	Het
Gpi1	T	C	7: 33,901,945 (GRCm39)	K156R	probably damaging	Het
Gpx5	T	C	13: 21,471,669 (GRCm39)	D178G	probably damaging	Het
Grm7	G	A	6: 111,184,766 (GRCm39)	E366K	probably damaging	Het
Haao	T	C	17: 84,139,103 (GRCm39)	Q277R	probably damaging	Het
Lama1	T	C	17: 68,060,753 (GRCm39)	S694P		Het
Lrp10	A	G	14: 54,705,950 (GRCm39)	D380G	probably benign	Het
Lrp2	C	A	2: 69,302,799 (GRCm39)	D2977Y	probably damaging	Het
Map2	T	A	1: 66,454,065 (GRCm39)	M985K	probably benign	Het
Met	C	A	6: 17,535,927 (GRCm39)	N784K	possibly damaging	Het
Met	T	A	6: 17,535,928 (GRCm39)	Y65N	probably damaging	Het
Muc6	T	G	7: 141,226,246 (GRCm39)		probably benign	Het
Numbl	T	A	7: 26,980,265 (GRCm39)	W416R	probably damaging	Het
Nup160	G	A	2: 90,537,364 (GRCm39)	S746N	probably benign	Het
Pcca	G	A	14: 122,887,700 (GRCm39)	G102D	probably damaging	Het
Pira13	T	A	7: 3,825,163 (GRCm39)	Y493F	possibly damaging	Het
Psmc2	T	A	5: 22,006,217 (GRCm39)	F243L	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rpn1	G	T	6: 88,076,285 (GRCm39)	V357L	probably benign	Het
Rtn3	A	G	19: 7,433,856 (GRCm39)	F712S	possibly damaging	Het
Scgb1b10	T	A	7: 31,800,574 (GRCm39)	D54E	probably benign	Het
Scn5a	A	G	9: 119,315,395 (GRCm39)	I1771T	probably damaging	Het
Sec14l1	A	G	11: 117,047,220 (GRCm39)	I633V	probably damaging	Het
Slc17a6	T	C	7: 51,311,224 (GRCm39)	Y313H	possibly damaging	Het
Slc18a1	G	A	8: 69,491,514 (GRCm39)	T500I	probably benign	Het
Slx4	G	A	16: 3,813,702 (GRCm39)	A93V	probably damaging	Het
Stat4	T	C	1: 52,107,974 (GRCm39)	S148P	probably benign	Het
Tbc1d15	A	T	10: 115,045,474 (GRCm39)	C497S	probably damaging	Het
Trav3-3	C	A	14: 53,903,802 (GRCm39)	P40Q	possibly damaging	Het
Trpv6	A	T	6: 41,602,390 (GRCm39)	L332Q	probably damaging	Het
Ube2t	T	G	1: 134,897,033 (GRCm39)	V55G	probably damaging	Het
Ufm1	T	C	3: 53,765,402 (GRCm39)	K69E	probably damaging	Het
Utp20	T	C	10: 88,614,102 (GRCm39)	D1284G	probably benign	Het
Vil1	C	T	1: 74,463,113 (GRCm39)	T432I	probably damaging	Het
Vps13b	T	A	15: 35,448,727 (GRCm39)	I567K	probably benign	Het
Zfp236	A	T	18: 82,646,488 (GRCm39)	V1023D	probably damaging	Het
Zfp429	A	G	13: 67,538,080 (GRCm39)	Y455H	probably benign	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
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
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
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