Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01675:Tlr6'

103610

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tlr6

Ensembl Gene

ENSMUSG00000051498

Gene Name

toll-like receptor 6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

IGL01675

Quality Score

Status

Chromosome

Chromosomal Location

65109374-65117440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65111842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 355 (I355N)

Ref Sequence

ENSEMBL: ENSMUSP00000062096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062315] [ENSMUST00000201307]

AlphaFold

Q9EPW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000062315
AA Change: I355N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062096
Gene: ENSMUSG00000051498
AA Change: I355N

Domain	Start	End	E-Value	Type
LRR_TYP	86	109	7.67e-2	SMART
LRR	131	155	2.76e1	SMART
LRR	461	482	6.23e1	SMART
LRR	483	507	4.57e0	SMART
LRRCT	540	594	4.06e-11	SMART
transmembrane domain	596	618	N/A	INTRINSIC
TIR	652	795	5.37e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201307

SMART Domains

Protein: ENSMUSP00000143865
Gene: ENSMUSG00000051498

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
LRR_TYP	86	109	3.3e-4	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 receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]
PHENOTYPE: Inactivation of this gene results in abnormal macrophage function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadps2	G	T	6: 23,382,904 (GRCm39)	L790I	probably damaging	Het
Hecw1	C	T	13: 14,409,007 (GRCm39)	R1100Q	probably damaging	Het
Itga7	T	C	10: 128,782,724 (GRCm39)	L691P	probably damaging	Het
Kcnh1	A	G	1: 192,019,901 (GRCm39)	D382G	probably benign	Het
Kcnh5	A	T	12: 75,161,274 (GRCm39)	C211*	probably null	Het
Lama2	T	C	10: 27,064,050 (GRCm39)	T1276A	possibly damaging	Het
Magea10	A	G	X: 71,426,721 (GRCm39)	V91A	probably benign	Het
Mtor	A	G	4: 148,569,111 (GRCm39)	T1143A	probably benign	Het
Pira13	A	C	7: 3,825,607 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,089,539 (GRCm39)	Q763R	probably damaging	Het
Slirp	G	A	12: 87,490,787 (GRCm39)	A24T	probably damaging	Het
Tyw5	G	A	1: 57,427,791 (GRCm39)	A271V	possibly damaging	Het
Vav3	G	A	3: 109,571,729 (GRCm39)	G217D	probably benign	Het
Vmn2r65	A	G	7: 84,596,587 (GRCm39)	I156T	probably benign	Het
Vmn2r79	A	G	7: 86,645,856 (GRCm39)	N62D	probably benign	Het

Other mutations in Tlr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Tlr6	APN	5	65,110,855 (GRCm39)	missense	probably damaging	1.00
IGL00963:Tlr6	APN	5	65,112,019 (GRCm39)	missense	possibly damaging	0.89
IGL01540:Tlr6	APN	5	65,112,629 (GRCm39)	missense	probably damaging	0.97
IGL01705:Tlr6	APN	5	65,111,473 (GRCm39)	missense	probably benign	0.03
IGL02256:Tlr6	APN	5	65,112,287 (GRCm39)	missense	probably benign	0.00
Counterintuitive	UTSW	5	65,110,938 (GRCm39)	missense	probably damaging	1.00
insouciant	UTSW	5	65,111,926 (GRCm39)	missense	possibly damaging	0.81
m2sd1	UTSW	5	65,111,537 (GRCm39)	nonsense
m2sd2	UTSW	5	65,111,737 (GRCm39)	nonsense
m2sd3	UTSW	5	65,111,584 (GRCm39)	missense	probably damaging	0.98
One_off	UTSW	5	65,110,594 (GRCm39)	missense	probably damaging	1.00
R0336:Tlr6	UTSW	5	65,111,289 (GRCm39)	missense	probably benign	0.02
R0388:Tlr6	UTSW	5	65,112,548 (GRCm39)	missense	possibly damaging	0.74
R0558:Tlr6	UTSW	5	65,112,203 (GRCm39)	nonsense	probably null
R0671:Tlr6	UTSW	5	65,111,935 (GRCm39)	missense	probably benign	0.00
R1171:Tlr6	UTSW	5	65,112,593 (GRCm39)	missense	probably benign	0.00
R1550:Tlr6	UTSW	5	65,110,754 (GRCm39)	missense	probably damaging	0.98
R1809:Tlr6	UTSW	5	65,111,055 (GRCm39)	nonsense	probably null
R1868:Tlr6	UTSW	5	65,112,172 (GRCm39)	missense	probably benign	0.00
R1876:Tlr6	UTSW	5	65,112,763 (GRCm39)	missense	probably damaging	1.00
R1893:Tlr6	UTSW	5	65,110,556 (GRCm39)	missense	probably damaging	1.00
R2006:Tlr6	UTSW	5	65,110,748 (GRCm39)	missense	probably damaging	1.00
R2055:Tlr6	UTSW	5	65,111,269 (GRCm39)	missense	probably damaging	1.00
R3087:Tlr6	UTSW	5	65,111,668 (GRCm39)	missense	probably damaging	1.00
R3406:Tlr6	UTSW	5	65,110,772 (GRCm39)	missense	probably damaging	1.00
R3711:Tlr6	UTSW	5	65,111,152 (GRCm39)	missense	possibly damaging	0.75
R3938:Tlr6	UTSW	5	65,110,938 (GRCm39)	missense	probably damaging	1.00
R3962:Tlr6	UTSW	5	65,112,328 (GRCm39)	missense	probably benign	0.10
R4152:Tlr6	UTSW	5	65,110,555 (GRCm39)	missense	probably damaging	1.00
R4274:Tlr6	UTSW	5	65,110,981 (GRCm39)	missense	probably benign	0.01
R4516:Tlr6	UTSW	5	65,112,247 (GRCm39)	missense	possibly damaging	0.67
R4518:Tlr6	UTSW	5	65,112,247 (GRCm39)	missense	possibly damaging	0.67
R4762:Tlr6	UTSW	5	65,111,739 (GRCm39)	missense	probably benign	0.09
R4959:Tlr6	UTSW	5	65,111,002 (GRCm39)	missense	possibly damaging	0.81
R5119:Tlr6	UTSW	5	65,111,644 (GRCm39)	missense	probably benign	0.06
R5248:Tlr6	UTSW	5	65,112,647 (GRCm39)	missense	probably benign	0.30
R5507:Tlr6	UTSW	5	65,110,749 (GRCm39)	missense	probably damaging	1.00
R5572:Tlr6	UTSW	5	65,112,361 (GRCm39)	missense	probably damaging	1.00
R5773:Tlr6	UTSW	5	65,111,846 (GRCm39)	missense	probably benign	0.00
R6711:Tlr6	UTSW	5	65,111,835 (GRCm39)	missense	probably damaging	1.00
R7096:Tlr6	UTSW	5	65,111,119 (GRCm39)	missense	probably benign
R7341:Tlr6	UTSW	5	65,110,972 (GRCm39)	missense	probably benign	0.32
R7594:Tlr6	UTSW	5	65,110,594 (GRCm39)	missense	probably damaging	1.00
R7754:Tlr6	UTSW	5	65,111,693 (GRCm39)	missense	possibly damaging	0.64
R7774:Tlr6	UTSW	5	65,110,728 (GRCm39)	missense	probably damaging	0.99
R8292:Tlr6	UTSW	5	65,111,134 (GRCm39)	missense	probably damaging	1.00
R8348:Tlr6	UTSW	5	65,111,185 (GRCm39)	missense	probably damaging	1.00
R8376:Tlr6	UTSW	5	65,112,455 (GRCm39)	missense	probably benign	0.00
R8448:Tlr6	UTSW	5	65,111,185 (GRCm39)	missense	probably damaging	1.00
R9620:Tlr6	UTSW	5	65,112,146 (GRCm39)	missense	possibly damaging	0.68
R9654:Tlr6	UTSW	5	65,112,697 (GRCm39)	missense	probably damaging	1.00
Z1177:Tlr6	UTSW	5	65,112,582 (GRCm39)	missense	probably damaging	0.96

Posted On

2014-01-21