Mutagenetix > Incidental Mutation

Incidental Mutation 'R4226:Tlr1'

320032

Institutional Source

Beutler Lab

Gene Symbol

Tlr1

Ensembl Gene

ENSMUSG00000044827

Gene Name

toll-like receptor 1

Synonyms

MMRRC Submission

041046-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4226 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65082022-65090906 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65083060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 506 (S506T)

Ref Sequence

ENSEMBL: ENSMUSP00000142500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059349] [ENSMUST00000197315]

AlphaFold

Q9EPQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059349
AA Change: S506T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060793
Gene: ENSMUSG00000044827
AA Change: S506T

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
LRR	71	94	5.72e0	SMART
LRR	116	140	3.27e2	SMART
low complexity region	240	256	N/A	INTRINSIC
LRR	374	397	9.75e0	SMART
LRR	400	423	4.98e1	SMART
low complexity region	427	438	N/A	INTRINSIC
LRR	448	469	6.23e1	SMART
LRR	470	494	4.57e0	SMART
LRRCT	527	581	2.5e-11	SMART
transmembrane domain	583	605	N/A	INTRINSIC
TIR	639	782	4.03e-41	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000197315
AA Change: S506T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142500
Gene: ENSMUSG00000044827
AA Change: S506T

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
LRR	71	94	5.72e0	SMART
Pfam:LRR_1	97	114	2.3e-2	PFAM
LRR	116	140	3.27e2	SMART
low complexity region	240	256	N/A	INTRINSIC
LRR	374	397	9.75e0	SMART
LRR	400	423	4.98e1	SMART
low complexity region	427	438	N/A	INTRINSIC
LRR	448	469	6.23e1	SMART
LRR	470	494	4.57e0	SMART
LRRCT	527	581	2.5e-11	SMART
transmembrane domain	583	605	N/A	INTRINSIC
TIR	639	782	4.03e-41	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display decreased macrophage peptoglycan-stimulated IL-6 production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,441,690 (GRCm39)	V279E	possibly damaging	Het
Ache	T	C	5: 137,289,152 (GRCm39)	V286A	possibly damaging	Het
Amotl1	T	C	9: 14,504,974 (GRCm39)	N115S	probably benign	Het
Aoah	A	T	13: 21,163,696 (GRCm39)	Y333F	possibly damaging	Het
Ap4m1	A	T	5: 138,171,079 (GRCm39)	R74*	probably null	Het
Arhgef5	C	T	6: 43,256,432 (GRCm39)	A1180V	probably damaging	Het
Birc6	T	C	17: 74,926,835 (GRCm39)		probably null	Het
Capn11	A	G	17: 45,953,392 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,527,756 (GRCm39)	I187L	probably benign	Het
Cfh	A	T	1: 140,036,664 (GRCm39)	C360S	probably damaging	Het
Csmd1	T	C	8: 16,050,490 (GRCm39)	N2249D	probably damaging	Het
Cyb5r4	T	G	9: 86,939,282 (GRCm39)	I355S	probably damaging	Het
Dnm1l	A	T	16: 16,132,251 (GRCm39)	H653Q	possibly damaging	Het
Frmd4a	C	T	2: 4,337,889 (GRCm39)	R32C	probably benign	Het
Gm16503	C	T	4: 147,625,725 (GRCm39)	S73L	unknown	Het
Hnrnpll	A	T	17: 80,357,234 (GRCm39)		probably null	Het
Igf1r	T	A	7: 67,844,826 (GRCm39)	Y866*	probably null	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Mc1r	A	G	8: 124,134,595 (GRCm39)	N116S	possibly damaging	Het
Micu2	T	C	14: 58,169,742 (GRCm39)	K203E	possibly damaging	Het
Mybpc1	C	T	10: 88,409,387 (GRCm39)	W36*	probably null	Het
Nsd1	C	T	13: 55,408,214 (GRCm39)	T1286I	probably damaging	Het
Or2a56	A	G	6: 42,932,689 (GRCm39)	T86A	probably benign	Het
Or51l14	T	C	7: 103,100,784 (GRCm39)	M80T	probably benign	Het
Pnpla3	C	A	15: 84,063,391 (GRCm39)	N256K	probably benign	Het
Polh	A	G	17: 46,483,520 (GRCm39)	S582P	probably benign	Het
Rnaseh2a	G	A	8: 85,686,702 (GRCm39)	T149I	possibly damaging	Het
Ryr1	A	C	7: 28,761,576 (GRCm39)	Y3190*	probably null	Het
Sec31b	T	A	19: 44,520,149 (GRCm39)	M212L	probably benign	Het
Smc4	A	G	3: 68,938,800 (GRCm39)	E950G	probably benign	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem236	G	T	2: 14,179,437 (GRCm39)	E13*	probably null	Het
Tmprss6	C	T	15: 78,330,899 (GRCm39)	V43M	probably damaging	Het
Vegfc	A	G	8: 54,612,445 (GRCm39)	Y156C	probably damaging	Het
Vmn1r39	T	C	6: 66,781,703 (GRCm39)	H205R	possibly damaging	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zan	T	C	5: 137,422,240 (GRCm39)	N2793D	unknown	Het

Other mutations in Tlr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Tlr1	APN	5	65,083,777 (GRCm39)	missense	probably benign	0.01
IGL01324:Tlr1	APN	5	65,082,522 (GRCm39)	missense	probably damaging	1.00
IGL01564:Tlr1	APN	5	65,083,189 (GRCm39)	missense	probably damaging	1.00
IGL01663:Tlr1	APN	5	65,082,416 (GRCm39)	missense	possibly damaging	0.48
IGL01689:Tlr1	APN	5	65,083,122 (GRCm39)	missense	probably damaging	0.97
IGL01749:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL01751:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL01769:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL01899:Tlr1	APN	5	65,084,359 (GRCm39)	missense	probably damaging	0.97
IGL02197:Tlr1	APN	5	65,083,797 (GRCm39)	missense	probably damaging	1.00
IGL02295:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL02308:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL02309:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL02311:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL02591:Tlr1	APN	5	65,084,059 (GRCm39)	missense	probably damaging	1.00
IGL02739:Tlr1	APN	5	65,084,469 (GRCm39)	missense	probably benign	0.41
IGL03206:Tlr1	APN	5	65,082,400 (GRCm39)	missense	probably damaging	0.99
IGL03055:Tlr1	UTSW	5	65,083,939 (GRCm39)	missense	probably benign	0.05
R0315:Tlr1	UTSW	5	65,084,271 (GRCm39)	missense	probably damaging	0.99
R0317:Tlr1	UTSW	5	65,083,310 (GRCm39)	nonsense	probably null
R0511:Tlr1	UTSW	5	65,083,963 (GRCm39)	missense	probably damaging	0.98
R1539:Tlr1	UTSW	5	65,084,319 (GRCm39)	missense	probably damaging	1.00
R1552:Tlr1	UTSW	5	65,084,203 (GRCm39)	missense	probably damaging	1.00
R1835:Tlr1	UTSW	5	65,083,043 (GRCm39)	missense	probably benign	0.01
R1933:Tlr1	UTSW	5	65,082,781 (GRCm39)	missense	possibly damaging	0.94
R1956:Tlr1	UTSW	5	65,082,520 (GRCm39)	missense	probably damaging	1.00
R2099:Tlr1	UTSW	5	65,082,411 (GRCm39)	missense	probably damaging	1.00
R2507:Tlr1	UTSW	5	65,082,639 (GRCm39)	missense	probably damaging	1.00
R2508:Tlr1	UTSW	5	65,082,639 (GRCm39)	missense	probably damaging	1.00
R2937:Tlr1	UTSW	5	65,083,251 (GRCm39)	missense	probably damaging	0.96
R2938:Tlr1	UTSW	5	65,083,251 (GRCm39)	missense	probably damaging	0.96
R3033:Tlr1	UTSW	5	65,082,912 (GRCm39)	missense	probably damaging	1.00
R4164:Tlr1	UTSW	5	65,084,545 (GRCm39)	missense	possibly damaging	0.47
R4366:Tlr1	UTSW	5	65,083,180 (GRCm39)	missense	probably benign	0.00
R5009:Tlr1	UTSW	5	65,083,567 (GRCm39)	missense	probably damaging	1.00
R5029:Tlr1	UTSW	5	65,083,024 (GRCm39)	missense	probably damaging	0.97
R5069:Tlr1	UTSW	5	65,083,743 (GRCm39)	missense	probably benign	0.01
R5186:Tlr1	UTSW	5	65,082,564 (GRCm39)	missense	probably damaging	1.00
R5336:Tlr1	UTSW	5	65,083,145 (GRCm39)	missense	probably damaging	1.00
R5500:Tlr1	UTSW	5	65,084,441 (GRCm39)	missense	probably benign	0.08
R5503:Tlr1	UTSW	5	65,083,635 (GRCm39)	missense	probably damaging	0.99
R5577:Tlr1	UTSW	5	65,083,428 (GRCm39)	missense	possibly damaging	0.94
R6141:Tlr1	UTSW	5	65,082,556 (GRCm39)	missense	possibly damaging	0.92
R6210:Tlr1	UTSW	5	65,082,629 (GRCm39)	missense	probably damaging	1.00
R6238:Tlr1	UTSW	5	65,084,472 (GRCm39)	missense	possibly damaging	0.86
R6284:Tlr1	UTSW	5	65,084,442 (GRCm39)	missense	possibly damaging	0.93
R6311:Tlr1	UTSW	5	65,084,188 (GRCm39)	missense	probably damaging	0.99
R7021:Tlr1	UTSW	5	65,083,056 (GRCm39)	missense	possibly damaging	0.75
R7140:Tlr1	UTSW	5	65,083,021 (GRCm39)	missense	probably benign	0.01
R7234:Tlr1	UTSW	5	65,084,067 (GRCm39)	missense	probably damaging	0.96
R7278:Tlr1	UTSW	5	65,084,115 (GRCm39)	missense	probably benign	0.03
R7378:Tlr1	UTSW	5	65,082,571 (GRCm39)	missense	not run
R7652:Tlr1	UTSW	5	65,084,130 (GRCm39)	nonsense	probably null
R7781:Tlr1	UTSW	5	65,084,079 (GRCm39)	missense	possibly damaging	0.94
R7783:Tlr1	UTSW	5	65,082,264 (GRCm39)	missense	probably damaging	1.00
R7851:Tlr1	UTSW	5	65,082,307 (GRCm39)	missense	possibly damaging	0.58
R8546:Tlr1	UTSW	5	65,084,374 (GRCm39)	missense	probably damaging	0.99
R8696:Tlr1	UTSW	5	65,084,094 (GRCm39)	missense	probably benign	0.00
R8744:Tlr1	UTSW	5	65,083,873 (GRCm39)	missense	possibly damaging	0.77
R9086:Tlr1	UTSW	5	65,083,198 (GRCm39)	missense	probably damaging	1.00
R9160:Tlr1	UTSW	5	65,083,653 (GRCm39)	missense	probably benign	0.00
R9199:Tlr1	UTSW	5	65,083,534 (GRCm39)	missense	possibly damaging	0.87
R9778:Tlr1	UTSW	5	65,083,371 (GRCm39)	missense	probably damaging	1.00
X0067:Tlr1	UTSW	5	65,083,918 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGACATGTGGAAGTCCCTC -3'
(R):5'- AGATGCTTACCTCCCAAAGTC -3'

Sequencing Primer
(F):5'- CTAGAGCTTTCTGGGTAGTCACAC -3'
(R):5'- TCCCAAAGTCAAGGTCCTTG -3'

Posted On

2015-06-12