Mutagenetix > Incidental Mutation

Incidental Mutation 'R1472:Tril'

164989

Institutional Source

Beutler Lab

Gene Symbol

Tril

Ensembl Gene

ENSMUSG00000043496

Gene Name

TLR4 interactor with leucine-rich repeats

Synonyms

1200009O22Rik

MMRRC Submission

039525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R1472 (G1)

Quality Score

144

Status

Not validated

Chromosome

Chromosomal Location

53792453-53797810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 53795012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 737 (R737S)

Ref Sequence

ENSEMBL: ENSMUSP00000116056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127748]

AlphaFold

Q9DBY4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104970

Predicted Effect

probably damaging
Transcript: ENSMUST00000127748
AA Change: R737S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116056
Gene: ENSMUSG00000043496
AA Change: R737S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LRRNT	26	58	1.91e-1	SMART
LRR_TYP	82	105	3.49e-5	SMART
LRR_TYP	106	129	2.91e-2	SMART
LRR	130	153	9.96e-1	SMART
LRR	154	177	2.49e-1	SMART
LRR_TYP	178	201	1.67e-2	SMART
LRR	202	227	1.09e2	SMART
LRR_TYP	228	251	4.47e-3	SMART
LRR_TYP	252	275	1.84e-4	SMART
LRR	276	299	7.05e-1	SMART
LRR_TYP	300	323	1.3e-4	SMART
LRR	325	347	1.12e1	SMART
LRRCT	359	415	1.02e-2	SMART
low complexity region	448	465	N/A	INTRINSIC
low complexity region	488	506	N/A	INTRINSIC
low complexity region	554	569	N/A	INTRINSIC
Blast:FN3	582	667	8e-34	BLAST
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	720	732	N/A	INTRINSIC
low complexity region	788	796	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204648

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TRIL is a component of the TLR4 (MIM 603030) complex and is induced in a number of cell types by lipopolysaccharide (LPS) (Carpenter et al., 2009 [PubMed 19710467]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,773,313 (GRCm39)	T834M	possibly damaging	Het
Ak1	T	C	2: 32,520,313 (GRCm39)	L32P	probably damaging	Het
Ankrd24	A	G	10: 81,470,754 (GRCm39)	D61G	probably damaging	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bmp10	A	G	6: 87,410,779 (GRCm39)	I191V	probably benign	Het
C2cd6	A	T	1: 59,106,944 (GRCm39)	S294T	possibly damaging	Het
C4b	T	A	17: 34,962,743 (GRCm39)	K20*	probably null	Het
Caps2	C	T	10: 112,015,377 (GRCm39)	T139I	probably benign	Het
Cdc25a	T	C	9: 109,705,157 (GRCm39)	S34P	probably benign	Het
Cenpv	T	C	11: 62,427,121 (GRCm39)	I146V	probably benign	Het
Cep57	A	T	9: 13,732,850 (GRCm39)	F32I	probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Cntrl	T	C	2: 35,059,329 (GRCm39)		probably null	Het
Cpd	A	G	11: 76,675,224 (GRCm39)	V1299A	probably damaging	Het
Cpne6	T	C	14: 55,752,092 (GRCm39)	V283A	probably benign	Het
Crot	A	G	5: 9,016,941 (GRCm39)	C584R	probably damaging	Het
Ctsc	A	C	7: 87,930,670 (GRCm39)	H83P	possibly damaging	Het
Dido1	T	C	2: 180,302,513 (GRCm39)	N1797S	probably benign	Het
Dlgap4	C	T	2: 156,602,821 (GRCm39)	Q148*	probably null	Het
Dnah3	T	C	7: 119,670,181 (GRCm39)	D688G	probably benign	Het
Dnmt1	T	C	9: 20,843,472 (GRCm39)	E138G	probably benign	Het
Edc4	T	A	8: 106,619,460 (GRCm39)	M1396K	probably damaging	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Hsd3b6	A	T	3: 98,715,255 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,333,199 (GRCm39)	I1937N	probably benign	Het
Kcnk15	C	A	2: 163,700,127 (GRCm39)	T103K	probably damaging	Het
Kifc3	A	G	8: 95,864,541 (GRCm39)		probably null	Het
Lama3	T	A	18: 12,615,102 (GRCm39)	F1342Y	probably benign	Het
Lilra6	A	T	7: 3,915,718 (GRCm39)	M98K	probably damaging	Het
Map3k21	T	C	8: 126,668,417 (GRCm39)	S668P	probably benign	Het
Mcpt8	T	C	14: 56,319,791 (GRCm39)	T220A	probably benign	Het
Mettl13	C	T	1: 162,364,736 (GRCm39)	V548I	possibly damaging	Het
Mfsd4b4	A	G	10: 39,767,860 (GRCm39)	M411T	probably benign	Het
Mrfap1	A	G	5: 36,953,817 (GRCm39)	S41P	possibly damaging	Het
Mroh2b	A	G	15: 4,978,137 (GRCm39)	I1302V	probably benign	Het
Mrpl45	C	T	11: 97,214,681 (GRCm39)	R123*	probably null	Het
Mstn	T	A	1: 53,101,157 (GRCm39)	I78K	probably damaging	Het
Mtdh	T	C	15: 34,114,191 (GRCm39)	S168P	possibly damaging	Het
Muc15	G	T	2: 110,561,905 (GRCm39)	V114F	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Myocd	G	T	11: 65,078,330 (GRCm39)	H360Q	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nav3	T	C	10: 109,563,802 (GRCm39)	E1627G	probably damaging	Het
Nlrp14	T	C	7: 106,781,910 (GRCm39)	L369P	probably benign	Het
Nlrp6	A	G	7: 140,503,408 (GRCm39)	T505A	probably damaging	Het
Npbwr1	T	C	1: 5,986,900 (GRCm39)	S205G	probably damaging	Het
Nsmaf	G	A	4: 6,423,448 (GRCm39)	R307*	probably null	Het
Or5h19	A	T	16: 58,856,920 (GRCm39)	L60Q	probably damaging	Het
Or9i1b	T	C	19: 13,897,208 (GRCm39)	S275P	probably damaging	Het
Parp9	T	G	16: 35,774,050 (GRCm39)	S341A	possibly damaging	Het
Pdss2	A	G	10: 43,289,533 (GRCm39)	N346S	probably benign	Het
Pikfyve	T	A	1: 65,263,360 (GRCm39)	F503Y	probably damaging	Het
Polr1e	G	T	4: 45,028,026 (GRCm39)	A290S	probably damaging	Het
Ppp1r21	A	T	17: 88,866,033 (GRCm39)	H305L	probably damaging	Het
Prss47	A	G	13: 65,197,103 (GRCm39)	L117P	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rcn2	C	T	9: 55,963,537 (GRCm39)	P222L	probably benign	Het
Rnf144b	T	C	13: 47,396,361 (GRCm39)	Y233H	probably damaging	Het
Rnf17	T	C	14: 56,665,436 (GRCm39)	L196P	probably damaging	Het
Sik2	A	G	9: 50,920,111 (GRCm39)	I22T	probably damaging	Het
Sis	A	G	3: 72,796,360 (GRCm39)	V1807A	probably benign	Het
Slc1a2	T	A	2: 102,568,254 (GRCm39)	I88N	probably damaging	Het
Slc22a22	A	G	15: 57,110,916 (GRCm39)	F437S	probably benign	Het
Slc39a13	A	T	2: 90,899,050 (GRCm39)	C20*	probably null	Het
Sos2	C	T	12: 69,632,090 (GRCm39)		probably null	Het
Sst	A	G	16: 23,709,448 (GRCm39)	V16A	probably benign	Het
Stab1	C	T	14: 30,863,543 (GRCm39)	G2073D	probably benign	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sugct	A	T	13: 17,627,131 (GRCm39)	C241S	probably benign	Het
Svil	T	A	18: 5,048,950 (GRCm39)	C76S	probably benign	Het
Tcaf1	A	G	6: 42,663,382 (GRCm39)	V166A	possibly damaging	Het
Tmem131	A	T	1: 36,855,322 (GRCm39)	N801K	possibly damaging	Het
Tox3	T	C	8: 90,980,973 (GRCm39)	N277S	probably damaging	Het
Trpm2	C	A	10: 77,801,841 (GRCm39)	V75L	probably damaging	Het
Tshz1	A	C	18: 84,031,930 (GRCm39)	L826R	possibly damaging	Het
Ttn	C	T	2: 76,597,196 (GRCm39)	V19906I	probably damaging	Het
Wnt5a	C	T	14: 28,240,461 (GRCm39)	R184*	probably null	Het
Wnt5b	G	A	6: 119,410,442 (GRCm39)	R333C	probably damaging	Het
Zbtb6	T	C	2: 37,319,356 (GRCm39)	T191A	probably benign	Het
Zc3h4	A	G	7: 16,168,695 (GRCm39)	N935D	unknown	Het
Zc3h7a	C	T	16: 10,978,890 (GRCm39)	R95H	probably damaging	Het
Zfp110	T	C	7: 12,582,468 (GRCm39)	V372A	possibly damaging	Het
Zmym2	C	T	14: 57,148,640 (GRCm39)	S318L	probably benign	Het

Other mutations in Tril

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Tril	APN	6	53,796,023 (GRCm39)	missense	probably damaging	1.00
IGL03399:Tril	APN	6	53,797,042 (GRCm39)	missense	probably benign	0.01
R0036:Tril	UTSW	6	53,795,618 (GRCm39)	missense	probably benign
R0099:Tril	UTSW	6	53,795,348 (GRCm39)	missense	probably damaging	0.99
R0448:Tril	UTSW	6	53,794,793 (GRCm39)	makesense	probably null
R0759:Tril	UTSW	6	53,795,012 (GRCm39)	missense	probably damaging	0.98
R1296:Tril	UTSW	6	53,795,012 (GRCm39)	missense	probably damaging	0.98
R1888:Tril	UTSW	6	53,796,577 (GRCm39)	missense	probably damaging	1.00
R1888:Tril	UTSW	6	53,796,577 (GRCm39)	missense	probably damaging	1.00
R2108:Tril	UTSW	6	53,796,068 (GRCm39)	missense	probably damaging	1.00
R2290:Tril	UTSW	6	53,795,012 (GRCm39)	missense	probably damaging	0.98
R2291:Tril	UTSW	6	53,795,012 (GRCm39)	missense	probably damaging	0.98
R2367:Tril	UTSW	6	53,796,151 (GRCm39)	missense	probably damaging	1.00
R4021:Tril	UTSW	6	53,796,004 (GRCm39)	missense	probably damaging	1.00
R4753:Tril	UTSW	6	53,796,698 (GRCm39)	missense	probably damaging	1.00
R4755:Tril	UTSW	6	53,795,449 (GRCm39)	missense	probably damaging	0.99
R4981:Tril	UTSW	6	53,795,905 (GRCm39)	missense	probably benign	0.10
R5468:Tril	UTSW	6	53,796,632 (GRCm39)	missense	probably damaging	1.00
R5653:Tril	UTSW	6	53,794,970 (GRCm39)	missense	probably benign	0.32
R6434:Tril	UTSW	6	53,795,493 (GRCm39)	missense	probably damaging	1.00
R6724:Tril	UTSW	6	53,796,559 (GRCm39)	missense	possibly damaging	0.94
R7401:Tril	UTSW	6	53,795,266 (GRCm39)	missense	possibly damaging	0.54
R7582:Tril	UTSW	6	53,795,921 (GRCm39)	missense	probably benign
R8339:Tril	UTSW	6	53,794,918 (GRCm39)	missense	possibly damaging	0.84
R8544:Tril	UTSW	6	53,796,295 (GRCm39)	missense	possibly damaging	0.93
R8721:Tril	UTSW	6	53,797,183 (GRCm39)	missense	probably benign	0.02
R8879:Tril	UTSW	6	53,796,569 (GRCm39)	missense	probably damaging	0.99
R8904:Tril	UTSW	6	53,797,202 (GRCm39)	missense	possibly damaging	0.51
R9147:Tril	UTSW	6	53,795,137 (GRCm39)	missense	probably damaging	1.00
R9148:Tril	UTSW	6	53,795,137 (GRCm39)	missense	probably damaging	1.00
R9740:Tril	UTSW	6	53,795,104 (GRCm39)	missense	possibly damaging	0.90
Z1088:Tril	UTSW	6	53,795,905 (GRCm39)	missense	probably benign	0.45
Z1177:Tril	UTSW	6	53,796,629 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGGCATTGCCTAGTCAGCGAATC -3'
(R):5'- GTGTCTGACCCCTGTGACTTCAAC -3'

Sequencing Primer
(F):5'- TTGCAAGAGGTGATCCTCCC -3'
(R):5'- TCTGTGCAACCTGACAGTAG -3'

Posted On

2014-03-28