Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02311:Tlr1'

287790

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tlr1

Ensembl Gene

ENSMUSG00000044827

Gene Name

toll-like receptor 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02311

Quality Score

Status

Chromosome

Chromosomal Location

65082022-65090906 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 65083290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 429 (L429*)

Ref Sequence

ENSEMBL: ENSMUSP00000142500 (fasta)

Gene Model

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

AlphaFold

Q9EPQ1

Predicted Effect

probably null
Transcript: ENSMUST00000059349
AA Change: L429*

SMART Domains

Protein: ENSMUSP00000060793
Gene: ENSMUSG00000044827
AA Change: L429*

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 null
Transcript: ENSMUST00000197315
AA Change: L429*

SMART Domains

Protein: ENSMUSP00000142500
Gene: ENSMUSG00000044827
AA Change: L429*

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	A	5: 25,202,705 (GRCm39)		probably benign	Het
Adam21	T	G	12: 81,607,666 (GRCm39)	D32A	probably benign	Het
Asns	A	G	6: 7,676,233 (GRCm39)		probably null	Het
Bin3	A	T	14: 70,361,666 (GRCm39)	M45L	probably benign	Het
Cfap44	A	T	16: 44,225,134 (GRCm39)		probably benign	Het
Cmya5	T	C	13: 93,227,163 (GRCm39)	T2642A	probably benign	Het
Dbndd2	T	C	2: 164,330,622 (GRCm39)	S92P	possibly damaging	Het
Dclre1b	A	C	3: 103,715,409 (GRCm39)	F30V	probably damaging	Het
Dock6	T	C	9: 21,755,624 (GRCm39)	D200G	probably damaging	Het
Epb41l4b	C	A	4: 57,076,456 (GRCm39)	R335L	probably damaging	Het
Fscn1	T	C	5: 142,957,765 (GRCm39)	V304A	probably benign	Het
Gm7008	G	A	12: 40,273,385 (GRCm39)		probably benign	Het
Gm8237	A	G	14: 5,864,425 (GRCm38)		probably null	Het
Ifih1	T	C	2: 62,440,847 (GRCm39)	T440A	probably damaging	Het
Mepe	C	T	5: 104,485,571 (GRCm39)	S237F	probably damaging	Het
Nr4a2	T	C	2: 57,001,743 (GRCm39)	I174V	probably benign	Het
Or2ag2	A	G	7: 106,485,101 (GRCm39)	Y308H	probably benign	Het
Or8c11	C	T	9: 38,289,194 (GRCm39)	Q6*	probably null	Het
Orc1	G	T	4: 108,457,171 (GRCm39)	V404L	probably benign	Het
Pcsk5	G	T	19: 17,410,784 (GRCm39)	Y1869*	probably null	Het
Phf21b	A	G	15: 84,678,095 (GRCm39)		probably null	Het
Pigg	A	G	5: 108,484,246 (GRCm39)	T631A	probably benign	Het
Plxnb1	A	G	9: 108,930,190 (GRCm39)	N349D	probably benign	Het
Scaf11	T	C	15: 96,316,637 (GRCm39)	S976G	probably benign	Het
Scn8a	G	T	15: 100,911,164 (GRCm39)	M861I	probably damaging	Het
Stau1	T	C	2: 166,792,239 (GRCm39)	N433S	probably damaging	Het
Synrg	A	G	11: 83,910,630 (GRCm39)	K854R	probably benign	Het
Tbata	T	A	10: 61,015,234 (GRCm39)	C150*	probably null	Het
Tcn2	G	A	11: 3,867,692 (GRCm39)	P417S	probably damaging	Het
Tpr	G	T	1: 150,274,404 (GRCm39)	D104Y	probably damaging	Het
Ubash3b	T	C	9: 40,958,333 (GRCm39)	T16A	probably benign	Het
Uso1	T	A	5: 92,335,635 (GRCm39)	S548T	probably benign	Het
Vps13b	T	A	15: 35,709,660 (GRCm39)	V1869E	probably benign	Het
Vps18	T	C	2: 119,120,732 (GRCm39)	C64R	probably benign	Het
Zic2	C	A	14: 122,713,606 (GRCm39)	N173K	probably damaging	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
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
R4226:Tlr1	UTSW	5	65,083,060 (GRCm39)	missense	probably damaging	0.96
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

Posted On

2015-04-16