Mutagenetix > Incidental Mutation

Incidental Mutation 'R1929:Tlr4'

215152

Institutional Source

Beutler Lab

Gene Symbol

Tlr4

Ensembl Gene

ENSMUSG00000039005

Gene Name

toll-like receptor 4

Synonyms

Lps, lipopolysaccharide response, Rasl2-8

MMRRC Submission

039947-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66745788-66765338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66757681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 158 (H158L)

Ref Sequence

ENSEMBL: ENSMUSP00000045770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048096] [ENSMUST00000107365]

AlphaFold

Q9QUK6

PDB Structure

Crystal structure of mouse TLR4 and mouse MD-2 complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/lipid IVa complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/LPS complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048096
AA Change: H158L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045770
Gene: ENSMUSG00000039005
AA Change: H158L

Domain	Start	End	E-Value	Type
LRR	76	99	7.36e0	SMART
LRR	100	123	1.86e0	SMART
LRR	173	196	8.24e0	SMART
LRR	370	401	4.33e1	SMART
LRR	468	492	2.54e2	SMART
LRR	493	516	1.86e2	SMART
LRR	517	540	1.67e2	SMART
LRR	541	563	1.92e2	SMART
LRRCT	576	626	4.74e-3	SMART
transmembrane domain	636	658	N/A	INTRINSIC
TIR	671	816	7.3e-39	SMART
low complexity region	822	833	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107365

SMART Domains

Protein: ENSMUSP00000102988
Gene: ENSMUSG00000039005

Domain	Start	End	E-Value	Type
PDB:3VQ2\|B	22	86	2e-38	PDB
SCOP:d1m0za_	27	86	4e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147008

Meta Mutation Damage Score

0.1562

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

98% (107/109)

MGI Phenotype

FUNCTION: This gene belongs to the evolutionarily-conserved Toll-like receptor family, whose members are type-1 transmembrane proteins that are involved in innate immunity. Toll-like receptors are characterized by an extracellular leucine-rich repeat domain that functions in ligand recognition and an intracellular toll/interleukin-1 receptor-like domain that is crucial for signal transduction. The receptor encoded by this gene mediates the innate immune response to bacterial lipopolysaccharide, a major component of the outer membrane of Gram-negative bacteria, through synthesis of pro-inflammatory cytokines and chemokines. In addition, this protein can recognize other pathogens from Gram-negative and Gram-positive bacteria as well as viral components. Mice deficient in this gene display a number of immune response-related phenotypes including hyporesponsiveness to bacterial lipopolysaccharide and increased levels of respiratory syncytial virus compared to controls. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for spontaneous or targeted mutations are hyporesponsive to bacterial lipopolysaccharide and more susceptible to infection by gram negative bacteria. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted(2) Spontaneous(6) Chemically induced(2)

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,337,866 (GRCm39)	E160V	probably damaging	Het
Amdhd2	T	C	17: 24,376,860 (GRCm39)		probably null	Het
Angel1	A	C	12: 86,749,093 (GRCm39)	L656V	probably damaging	Het
Ankrd12	G	A	17: 66,293,681 (GRCm39)	S584L	possibly damaging	Het
Apbb2	T	A	5: 66,464,958 (GRCm39)	N679Y	probably benign	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Bcan	T	A	3: 87,900,401 (GRCm39)	S611C	probably damaging	Het
Bnip3	T	G	7: 138,496,359 (GRCm39)		silent	Het
Btc	T	C	5: 91,510,260 (GRCm39)	Y111C	probably damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	probably damaging	Het
Cd2bp2	T	C	7: 126,793,050 (GRCm39)	D324G	probably benign	Het
Cdc20b	A	G	13: 113,208,451 (GRCm39)	T216A	probably benign	Het
Cdk17	T	C	10: 93,064,540 (GRCm39)	Y270H	probably damaging	Het
Cenpv	T	C	11: 62,416,059 (GRCm39)	E230G	probably benign	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Cyp27b1	T	A	10: 126,884,181 (GRCm39)	V11D	probably damaging	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Des	T	G	1: 75,340,137 (GRCm39)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,238,165 (GRCm39)	D109V	probably damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 65,867,224 (GRCm39)	S2785G	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Dtx3l	A	T	16: 35,754,059 (GRCm39)	D182E	possibly damaging	Het
Efcab6	A	G	15: 83,777,163 (GRCm39)		probably benign	Het
Elac2	T	A	11: 64,870,015 (GRCm39)	S27T	probably benign	Het
Emsy	T	G	7: 98,275,830 (GRCm39)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,238,047 (GRCm39)	N814S	probably damaging	Het
Fgd6	T	C	10: 93,880,868 (GRCm39)	V574A	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	Het
Fmo1	A	T	1: 162,661,424 (GRCm39)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,626,616 (GRCm39)	I310N	possibly damaging	Het
Focad	A	G	4: 88,260,449 (GRCm39)	N902D	unknown	Het
Focad	A	G	4: 88,315,416 (GRCm39)	S1525G	probably benign	Het
Fras1	T	C	5: 96,815,296 (GRCm39)	W1338R	probably benign	Het
Fry	A	G	5: 150,324,389 (GRCm39)	I1151V	probably null	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Gm10076	T	G	14: 105,919,304 (GRCm39)		noncoding transcript	Het
Gm5698	T	G	1: 31,017,042 (GRCm39)	D3A	probably damaging	Het
Gngt2	C	T	11: 95,735,972 (GRCm39)		probably benign	Het
Gsdma	T	C	11: 98,562,193 (GRCm39)		probably null	Het
Gtf2h3	A	T	5: 124,740,262 (GRCm39)		probably benign	Het
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Itpr1	T	A	6: 108,470,716 (GRCm39)	C2214S	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnk16	A	G	14: 20,315,347 (GRCm39)	V72A	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Matr3	T	A	18: 35,721,378 (GRCm39)		probably benign	Het
Med13l	T	G	5: 118,866,898 (GRCm39)	F651V	probably benign	Het
Mfsd11	T	C	11: 116,764,740 (GRCm39)	V388A	probably benign	Het
Mki67	C	T	7: 135,299,794 (GRCm39)	V1747I	possibly damaging	Het
Mms22l	T	C	4: 24,535,936 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,263,366 (GRCm39)	I154T	probably benign	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1e1c	T	A	11: 73,266,427 (GRCm39)	V287E	probably damaging	Het
Or4a15	A	G	2: 89,193,353 (GRCm39)	V140A	probably benign	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
P4ha1	A	G	10: 59,206,859 (GRCm39)	E523G	probably damaging	Het
Per3	T	A	4: 151,103,342 (GRCm39)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Pigr	G	A	1: 130,774,399 (GRCm39)		probably benign	Het
Pkd1l1	A	T	11: 8,786,197 (GRCm39)		probably benign	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Pramel22	G	A	4: 143,380,712 (GRCm39)	T437I	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Rgs3	A	G	4: 62,620,384 (GRCm39)	I537V	probably damaging	Het
Rhobtb2	T	G	14: 70,033,893 (GRCm39)	D444A	probably damaging	Het
Rnf40	T	C	7: 127,190,956 (GRCm39)	S314P	probably damaging	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Samd3	A	G	10: 26,139,884 (GRCm39)		probably benign	Het
Sec61a2	A	G	2: 5,878,547 (GRCm39)		probably benign	Het
Serpina3m	G	A	12: 104,355,581 (GRCm39)	A83T	probably damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Sez6	C	T	11: 77,863,758 (GRCm39)	T439I	probably damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Slc26a2	A	G	18: 61,331,650 (GRCm39)	C594R	possibly damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Spg11	C	T	2: 121,890,688 (GRCm39)	V2044M	probably damaging	Het
Stx18	T	A	5: 38,285,383 (GRCm39)		probably null	Het
Suclg2	T	C	6: 95,566,075 (GRCm39)		probably benign	Het
Tmem131	A	G	1: 36,851,352 (GRCm39)	V966A	possibly damaging	Het
Tram1l1	T	A	3: 124,115,635 (GRCm39)	I265N	probably damaging	Het
Trim58	T	A	11: 58,531,493 (GRCm39)	F67Y	possibly damaging	Het
Ttc19	A	G	11: 62,172,650 (GRCm39)	Q74R	probably benign	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn2r16	A	G	5: 109,487,124 (GRCm39)	Y115C	possibly damaging	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp451	A	G	1: 33,821,274 (GRCm39)	F151L	probably damaging	Het
Zfp451	G	A	1: 33,822,937 (GRCm39)	P99S	probably benign	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Zfp799	A	G	17: 33,040,777 (GRCm39)	Y58H	probably damaging	Het
Zfp804b	A	G	5: 6,819,748 (GRCm39)	V1069A	probably benign	Het
Zfp938	C	T	10: 82,061,381 (GRCm39)	G413D	probably damaging	Het

Other mutations in Tlr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Tlr4	APN	4	66,758,662 (GRCm39)	missense	probably benign	0.01
IGL01343:Tlr4	APN	4	66,752,124 (GRCm39)	splice site	probably benign
IGL01669:Tlr4	APN	4	66,759,504 (GRCm39)	missense	possibly damaging	0.48
IGL01875:Tlr4	APN	4	66,757,726 (GRCm39)	missense	probably damaging	1.00
IGL02138:Tlr4	APN	4	66,759,202 (GRCm39)	missense	probably damaging	0.99
IGL02244:Tlr4	APN	4	66,752,298 (GRCm39)	critical splice donor site	probably null
IGL02793:Tlr4	APN	4	66,757,681 (GRCm39)	missense	probably damaging	1.00
IGL03269:Tlr4	APN	4	66,759,033 (GRCm39)	missense	probably damaging	1.00
IGL03288:Tlr4	APN	4	66,757,990 (GRCm39)	missense	probably damaging	0.99
bugsy	UTSW	4	66,757,491 (GRCm39)	nonsense	probably null
Cruyff	UTSW	4	66,758,563 (GRCm39)	missense	probably damaging	1.00
don_knotts	UTSW	4	66,759,409 (GRCm39)	missense	probably damaging	1.00
Guardiola	UTSW	4	66,757,540 (GRCm39)	missense	probably damaging	1.00
Lops	UTSW	4	66,752,117 (GRCm39)	splice site	probably null
lps3	UTSW	4	66,759,334 (GRCm39)	missense	probably damaging	1.00
Lps4	UTSW	4	66,759,379 (GRCm39)	missense	probably damaging	1.00
milquetoast	UTSW	4	66,757,681 (GRCm39)	missense	probably damaging	1.00
salvador	UTSW	4	66,758,443 (GRCm39)	missense	probably damaging	0.99
R0449:Tlr4	UTSW	4	66,757,857 (GRCm39)	missense	probably damaging	0.99
R0481:Tlr4	UTSW	4	66,746,153 (GRCm39)	missense	probably benign	0.05
R0576:Tlr4	UTSW	4	66,757,732 (GRCm39)	missense	probably benign	0.00
R0827:Tlr4	UTSW	4	66,752,117 (GRCm39)	splice site	probably null
R1488:Tlr4	UTSW	4	66,757,786 (GRCm39)	missense	probably damaging	1.00
R1490:Tlr4	UTSW	4	66,757,611 (GRCm39)	missense	possibly damaging	0.56
R1522:Tlr4	UTSW	4	66,757,933 (GRCm39)	missense	possibly damaging	0.80
R1616:Tlr4	UTSW	4	66,757,717 (GRCm39)	missense	probably damaging	1.00
R1681:Tlr4	UTSW	4	66,759,342 (GRCm39)	missense	probably damaging	1.00
R1738:Tlr4	UTSW	4	66,759,313 (GRCm39)	missense	probably benign	0.19
R1888:Tlr4	UTSW	4	66,759,409 (GRCm39)	missense	probably damaging	1.00
R1888:Tlr4	UTSW	4	66,759,409 (GRCm39)	missense	probably damaging	1.00
R1982:Tlr4	UTSW	4	66,759,272 (GRCm39)	missense	probably benign	0.40
R1998:Tlr4	UTSW	4	66,758,707 (GRCm39)	missense	probably damaging	1.00
R2186:Tlr4	UTSW	4	66,758,220 (GRCm39)	missense	possibly damaging	0.63
R2305:Tlr4	UTSW	4	66,758,338 (GRCm39)	missense	probably damaging	1.00
R3011:Tlr4	UTSW	4	66,757,491 (GRCm39)	nonsense	probably null
R3420:Tlr4	UTSW	4	66,757,773 (GRCm39)	missense	probably benign	0.37
R3422:Tlr4	UTSW	4	66,757,773 (GRCm39)	missense	probably benign	0.37
R3818:Tlr4	UTSW	4	66,759,553 (GRCm39)	missense	probably benign	0.00
R4212:Tlr4	UTSW	4	66,758,563 (GRCm39)	missense	probably damaging	1.00
R4213:Tlr4	UTSW	4	66,758,563 (GRCm39)	missense	probably damaging	1.00
R4417:Tlr4	UTSW	4	66,757,540 (GRCm39)	missense	probably damaging	1.00
R4630:Tlr4	UTSW	4	66,757,477 (GRCm39)	missense	probably benign	0.44
R4735:Tlr4	UTSW	4	66,759,435 (GRCm39)	missense	probably damaging	1.00
R5191:Tlr4	UTSW	4	66,759,616 (GRCm39)	missense	probably damaging	0.96
R5613:Tlr4	UTSW	4	66,759,122 (GRCm39)	missense	possibly damaging	0.94
R5705:Tlr4	UTSW	4	66,752,217 (GRCm39)	missense	probably damaging	1.00
R5726:Tlr4	UTSW	4	66,758,652 (GRCm39)	missense	probably benign
R6021:Tlr4	UTSW	4	66,759,103 (GRCm39)	missense	probably damaging	1.00
R6159:Tlr4	UTSW	4	66,758,070 (GRCm39)	missense	possibly damaging	0.92
R6227:Tlr4	UTSW	4	66,758,832 (GRCm39)	missense	probably benign
R7139:Tlr4	UTSW	4	66,758,520 (GRCm39)	missense	probably benign	0.06
R7199:Tlr4	UTSW	4	66,759,430 (GRCm39)	missense	probably damaging	0.99
R7220:Tlr4	UTSW	4	66,758,188 (GRCm39)	missense	probably benign
R7337:Tlr4	UTSW	4	66,758,191 (GRCm39)	missense	possibly damaging	0.86
R7487:Tlr4	UTSW	4	66,842,659 (GRCm39)	missense	probably benign	0.00
R7638:Tlr4	UTSW	4	66,758,443 (GRCm39)	missense	probably damaging	0.99
R7773:Tlr4	UTSW	4	66,757,836 (GRCm39)	missense	probably damaging	1.00
R7814:Tlr4	UTSW	4	66,759,316 (GRCm39)	missense	probably damaging	1.00
R7897:Tlr4	UTSW	4	66,758,058 (GRCm39)	missense	probably benign	0.07
R8044:Tlr4	UTSW	4	66,746,084 (GRCm39)	missense	probably benign	0.01
R8062:Tlr4	UTSW	4	66,758,087 (GRCm39)	missense	probably benign	0.00
R8080:Tlr4	UTSW	4	66,757,713 (GRCm39)	missense	probably damaging	1.00
R8446:Tlr4	UTSW	4	66,757,673 (GRCm39)	missense	probably damaging	0.98
R8916:Tlr4	UTSW	4	66,847,268 (GRCm39)	missense	probably benign	0.06
R9100:Tlr4	UTSW	4	66,758,518 (GRCm39)	missense	probably benign	0.08
R9415:Tlr4	UTSW	4	66,746,160 (GRCm39)	critical splice donor site	probably null
R9562:Tlr4	UTSW	4	66,759,522 (GRCm39)	missense	possibly damaging	0.80
R9565:Tlr4	UTSW	4	66,759,522 (GRCm39)	missense	possibly damaging	0.80
R9752:Tlr4	UTSW	4	66,757,912 (GRCm39)	missense	probably benign	0.02
X0064:Tlr4	UTSW	4	66,758,377 (GRCm39)	missense	probably damaging	0.99
Z1088:Tlr4	UTSW	4	66,847,319 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATGGCATGGCTTACACCACC -3'
(R):5'- AGTTCATGGAGCTTAATTCCCTG -3'

Sequencing Primer
(F):5'- CCTCTCAAACTTGATACTGACAGG -3'
(R):5'- CATGGAGCTTAATTCCCTGAAAGGC -3'

Posted On

2014-07-14