Mutagenetix > Incidental Mutation

Incidental Mutation 'R4982:Ticam1'

384952

Institutional Source

Beutler Lab

Gene Symbol

Ticam1

Ensembl Gene

ENSMUSG00000047123

Gene Name

TIR domain containing adaptor molecule 1

Synonyms

Trif, TICAM-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56576462-56583767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56579020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 25 (H25L)

Ref Sequence

ENSEMBL: ENSMUSP00000055104 (fasta)

Gene Model

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

AlphaFold

Q80UF7

Predicted Effect

probably benign
Transcript: ENSMUST00000058136
AA Change: H25L

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000055104
Gene: ENSMUSG00000047123
AA Change: H25L

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,242,348 (GRCm39)	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,726,057 (GRCm39)	S287P	probably damaging	Het
Atxn2	G	T	5: 121,952,406 (GRCm39)	A1280S	possibly damaging	Het
Bbip1	T	C	19: 53,920,639 (GRCm39)		probably null	Het
Bbs2	A	G	8: 94,808,982 (GRCm39)		probably null	Het
Bcl11b	A	T	12: 107,932,031 (GRCm39)	C180*	probably null	Het
Bltp3a	T	C	17: 28,105,580 (GRCm39)	F702S	probably benign	Het
Bod1l	A	G	5: 41,977,816 (GRCm39)	V1166A	probably benign	Het
Bora	C	T	14: 99,284,788 (GRCm39)	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,449,075 (GRCm39)	E24G	probably benign	Het
Ccne1	A	T	7: 37,799,996 (GRCm39)	I196N	probably damaging	Het
Chsy3	C	T	18: 59,542,647 (GRCm39)	S595L	probably benign	Het
Chsy3	T	A	18: 59,542,839 (GRCm39)	I659N	possibly damaging	Het
Cntrob	T	A	11: 69,202,188 (GRCm39)		probably null	Het
Col5a2	G	A	1: 45,428,618 (GRCm39)	P983S	possibly damaging	Het
Crat	T	A	2: 30,297,148 (GRCm39)		probably null	Het
Ctnnbl1	C	T	2: 157,678,473 (GRCm39)	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,085,732 (GRCm39)	V83A	possibly damaging	Het
Dixdc1	A	G	9: 50,593,902 (GRCm39)	S488P	possibly damaging	Het
Dmrta1	T	C	4: 89,576,801 (GRCm39)	C86R	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Fam171a1	G	A	2: 3,179,505 (GRCm39)		probably null	Het
Fam222b	T	C	11: 78,045,569 (GRCm39)	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,531,719 (GRCm39)		probably benign	Het
Fes	T	C	7: 80,036,952 (GRCm39)	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,684,933 (GRCm39)	V51A	probably benign	Het
Gpr75	C	T	11: 30,841,463 (GRCm39)	L123F	possibly damaging	Het
Gpr75	C	A	11: 30,841,462 (GRCm39)	H122Q	probably damaging	Het
Greb1	A	G	12: 16,774,762 (GRCm39)	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512 (GRCm39)	H1041R	probably benign	Het
Ifna5	A	G	4: 88,753,861 (GRCm39)	N34D	probably damaging	Het
Ift140	A	T	17: 25,255,968 (GRCm39)	H221L	probably damaging	Het
Igsf3	T	C	3: 101,342,983 (GRCm39)	V540A	probably benign	Het
Il10ra	A	G	9: 45,180,357 (GRCm39)	L5S	probably damaging	Het
Klra2	A	T	6: 131,197,152 (GRCm39)	D282E	probably benign	Het
Lyst	T	A	13: 13,900,539 (GRCm39)	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,046,940 (GRCm39)	T1689A	probably benign	Het
Mon2	A	T	10: 122,831,694 (GRCm39)	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,720,528 (GRCm39)	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332 (GRCm39)	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,363,193 (GRCm39)		probably benign	Het
Mybbp1a	T	C	11: 72,336,040 (GRCm39)	I451T	probably damaging	Het
Myh7	T	A	14: 55,210,224 (GRCm39)	E1827V	probably damaging	Het
Or1j14	A	T	2: 36,417,409 (GRCm39)		probably null	Het
Or2h15	A	T	17: 38,441,468 (GRCm39)	I205N	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,855 (GRCm39)	Y197*	probably null	Het
Or8b8	C	A	9: 37,808,811 (GRCm39)	T37N	probably damaging	Het
Os9	C	T	10: 126,956,920 (GRCm39)	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607 (GRCm39)	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,802,476 (GRCm39)	N107D	probably benign	Het
Pclo	C	T	5: 14,729,308 (GRCm39)		probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phtf1	T	A	3: 103,906,024 (GRCm39)	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,703,197 (GRCm39)	L913R	probably damaging	Het
Pld1	C	A	3: 28,085,447 (GRCm39)	A201D	probably damaging	Het
Rorb	T	A	19: 18,955,052 (GRCm39)	Q103L	probably benign	Het
Sec24d	C	T	3: 123,093,255 (GRCm39)	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,085,484 (GRCm39)	I86V	probably benign	Het
Serpinb6a	A	T	13: 34,102,857 (GRCm39)	M201K	probably damaging	Het
Snx8	A	G	5: 140,337,989 (GRCm39)	S219P	probably benign	Het
Sp8	C	T	12: 118,812,160 (GRCm39)	T5I	probably damaging	Het
Tanc1	A	G	2: 59,630,287 (GRCm39)	N749D	probably damaging	Het
Tarm1	G	C	7: 3,537,612 (GRCm39)	P284A	probably damaging	Het
Tbx15	A	T	3: 99,161,390 (GRCm39)	E65V	probably benign	Het
Tmprss11g	T	A	5: 86,640,674 (GRCm39)	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,414,504 (GRCm39)	*310W	probably null	Het
Tsks	C	T	7: 44,593,418 (GRCm39)	T128I	possibly damaging	Het
Vmn1r175	A	T	7: 23,508,494 (GRCm39)	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,910,847 (GRCm39)	I41T	probably damaging	Het
Ythdc2	A	G	18: 45,004,532 (GRCm39)	N1102S	probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
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
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'- AAGCCATGTCCCTTGTGGAG -3'
(R):5'- AACTCCTACTCCTGCAGGTC -3'

Sequencing Primer
(F):5'- ACAAGTCTGGAGGCTCCTCAG -3'
(R):5'- ACTCCTGCAGGTCTGTGCTG -3'

Posted On

2016-05-10