Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01749:Tlr1'

278815

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 #

IGL01749

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,135,050 (GRCm39)	E245G	probably damaging	Het
Bach2	A	G	4: 32,580,261 (GRCm39)	T829A	probably damaging	Het
Car1	T	A	3: 14,832,519 (GRCm39)	H205L	probably benign	Het
Cmya5	T	C	13: 93,225,807 (GRCm39)	T3094A	probably benign	Het
Dctn2	G	A	10: 127,117,286 (GRCm39)	R380H	possibly damaging	Het
Flt3	T	C	5: 147,294,838 (GRCm39)	K411R	probably benign	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Hook2	T	C	8: 85,719,865 (GRCm39)		probably null	Het
Iqsec1	G	A	6: 90,657,486 (GRCm39)	R571C	probably benign	Het
Lig3	T	G	11: 82,680,693 (GRCm39)	L421R	probably damaging	Het
Mtcl2	G	T	2: 156,863,461 (GRCm39)		probably benign	Het
Nipbl	A	G	15: 8,391,305 (GRCm39)	V223A	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or2y12	A	T	11: 49,426,944 (GRCm39)	R311W	probably damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Reln	C	A	5: 22,549,244 (GRCm39)	E55*	probably null	Het
Ttc22	A	G	4: 106,495,800 (GRCm39)	T385A	probably benign	Het
Vmn1r48	A	G	6: 90,012,934 (GRCm39)	V297A	possibly 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
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
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