Mutagenetix > Incidental Mutation

Incidental Mutation 'R5503:Tlr1'

430726

Institutional Source

Beutler Lab

Gene Symbol

Tlr1

Ensembl Gene

ENSMUSG00000044827

Gene Name

toll-like receptor 1

Synonyms

MMRRC Submission

043064-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65082022-65090906 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65083635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 314 (V314D)

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: V314D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060793
Gene: ENSMUSG00000044827
AA Change: V314D

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: V314D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142500
Gene: ENSMUSG00000044827
AA Change: V314D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.4%
20x: 91.5%

Validation Efficiency

96% (103/107)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Abca6	A	G	11: 110,109,083 (GRCm39)	S696P	probably damaging	Het
Abca9	G	A	11: 110,032,436 (GRCm39)	T727M	probably damaging	Het
Alpk2	T	C	18: 65,439,312 (GRCm39)	R1161G	probably benign	Het
Amy1	T	C	3: 113,349,709 (GRCm39)	D487G	probably benign	Het
Arap2	G	A	5: 62,787,529 (GRCm39)	A1409V	probably damaging	Het
B4galt6	C	A	18: 20,878,409 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,014,480 (GRCm39)	G382D	probably damaging	Het
Camk2a	A	G	18: 61,111,072 (GRCm39)	D87G	probably damaging	Het
Cdh18	A	G	15: 23,436,620 (GRCm39)	Y492C	probably damaging	Het
Cert1	C	T	13: 96,679,747 (GRCm39)	R26C	possibly damaging	Het
Col18a1	C	T	10: 76,907,454 (GRCm39)	G861D	probably damaging	Het
Crybg1	C	A	10: 43,874,762 (GRCm39)	S782I	probably benign	Het
Csgalnact1	G	A	8: 68,914,125 (GRCm39)	L27F	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dapk1	T	C	13: 60,873,126 (GRCm39)	F343L	probably benign	Het
Dgat1	A	T	15: 76,386,394 (GRCm39)		probably benign	Het
Dnah11	C	A	12: 117,844,186 (GRCm39)		probably null	Het
Dsg2	T	A	18: 20,713,708 (GRCm39)	Y226*	probably null	Het
Epg5	T	A	18: 77,994,422 (GRCm39)	M351K	possibly damaging	Het
F13b	A	G	1: 139,450,281 (GRCm39)	T648A	probably benign	Het
Fgf17	T	C	14: 70,874,408 (GRCm39)	Y127C	probably damaging	Het
Fkbp15	G	A	4: 62,246,124 (GRCm39)	P435S	probably benign	Het
Gfm1	G	A	3: 67,361,060 (GRCm39)		probably null	Het
Gigyf1	T	C	5: 137,521,729 (GRCm39)		probably benign	Het
Gm12830	A	T	4: 114,678,936 (GRCm39)	T6S	unknown	Het
Gm6465	A	T	5: 11,898,150 (GRCm39)	N88I	probably damaging	Het
Gpr18	C	T	14: 122,149,159 (GRCm39)	V289I	probably damaging	Het
Ipp	G	T	4: 116,395,135 (GRCm39)	E557*	probably null	Het
Klhl12	T	A	1: 134,413,653 (GRCm39)		probably null	Het
Klhl38	A	G	15: 58,185,745 (GRCm39)	V328A	possibly damaging	Het
Kndc1	A	G	7: 139,511,802 (GRCm39)	T1470A	probably damaging	Het
Kntc1	T	A	5: 123,957,939 (GRCm39)	D2173E	possibly damaging	Het
Lipi	T	C	16: 75,370,864 (GRCm39)	K118E	probably benign	Het
Marf1	A	C	16: 13,970,095 (GRCm39)	L208R	probably damaging	Het
Misp	G	A	10: 79,662,552 (GRCm39)	R323K	probably damaging	Het
Mlxip	T	A	5: 123,533,390 (GRCm39)	M133K	probably damaging	Het
Mon2	A	T	10: 122,868,550 (GRCm39)	M501K	possibly damaging	Het
Myh2	A	G	11: 67,064,275 (GRCm39)	I77V	probably benign	Het
Napa	C	A	7: 15,849,549 (GRCm39)	Q254K	probably benign	Het
Nckap5l	C	A	15: 99,323,503 (GRCm39)	G1000V	probably damaging	Het
Neo1	A	T	9: 58,892,933 (GRCm39)	S236R	possibly damaging	Het
Neurl4	T	A	11: 69,797,194 (GRCm39)	Y594N	probably damaging	Het
Nmral1	G	A	16: 4,533,493 (GRCm39)	P94L	probably benign	Het
Notch3	A	T	17: 32,366,029 (GRCm39)	I1024N	probably benign	Het
Nsd1	T	A	13: 55,393,752 (GRCm39)	I451K	probably damaging	Het
Nt5c3b	T	C	11: 100,323,883 (GRCm39)	D143G	probably benign	Het
Oplah	A	G	15: 76,189,646 (GRCm39)		probably null	Het
Or13a17	A	C	7: 140,271,309 (GRCm39)	M164L	probably benign	Het
Or2ak4	T	A	11: 58,649,154 (GRCm39)	V221E	probably damaging	Het
Or6b2b	C	A	1: 92,418,918 (GRCm39)	K186N	probably benign	Het
Or7d10	A	G	9: 19,831,675 (GRCm39)	T57A	probably benign	Het
Or8b48	T	C	9: 38,493,368 (GRCm39)	V265A	probably benign	Het
Or8g19	A	G	9: 39,055,780 (GRCm39)	N128S	probably benign	Het
Phb2	T	A	6: 124,689,985 (GRCm39)		probably benign	Het
Plcl2	A	G	17: 50,816,957 (GRCm39)	I108V	probably benign	Het
Plpp6	T	A	19: 28,942,146 (GRCm39)	M249K	probably damaging	Het
Pnpt1	G	A	11: 29,088,156 (GRCm39)	G189E	probably damaging	Het
Pramel17	A	T	4: 101,692,999 (GRCm39)	Y334N	probably benign	Het
Ptprn	C	T	1: 75,228,519 (GRCm39)	V853M	probably damaging	Het
Ptprq	T	C	10: 107,524,189 (GRCm39)		probably null	Het
Rai1	G	A	11: 60,077,279 (GRCm39)	V448I	probably benign	Het
Rbm20	T	A	19: 53,839,785 (GRCm39)	C925S	possibly damaging	Het
Rin3	C	A	12: 102,279,314 (GRCm39)	P41Q	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,505 (GRCm39)		noncoding transcript	Het
Rpl39-ps	A	T	15: 102,543,561 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	A	10: 43,783,879 (GRCm39)	D133E	probably benign	Het
Ryr1	T	C	7: 28,768,453 (GRCm39)	K2839E	possibly damaging	Het
Septin5	T	C	16: 18,442,118 (GRCm39)	K268R	probably benign	Het
Serpinb6b	T	A	13: 33,161,642 (GRCm39)	D238E	possibly damaging	Het
Slc15a2	C	T	16: 36,582,747 (GRCm39)	V214M	probably damaging	Het
Smarca2	T	C	19: 26,601,336 (GRCm39)	M18T	probably damaging	Het
Smarca2	C	A	19: 26,659,446 (GRCm39)	T912K	possibly damaging	Het
Smdt1	A	T	15: 82,232,101 (GRCm39)	R46S	possibly damaging	Het
Spa17	A	C	9: 37,523,273 (GRCm39)	F5V	probably damaging	Het
Spag17	A	G	3: 99,934,560 (GRCm39)	E614G	possibly damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,237,471 (GRCm39)		probably benign	Het
Trappc8	A	T	18: 20,969,957 (GRCm39)	L1011Q	probably benign	Het
Tsga10	A	G	1: 37,800,028 (GRCm39)	*691Q	probably null	Het
Vav1	A	T	17: 57,610,079 (GRCm39)	K420*	probably null	Het
Vmn1r174	C	G	7: 23,453,562 (GRCm39)	T76R	probably benign	Het
Vmn2r116	A	G	17: 23,605,778 (GRCm39)	E230G	probably benign	Het
Vps13b	A	G	15: 35,452,312 (GRCm39)	T637A	probably damaging	Het
Zbtb7a	A	G	10: 80,980,631 (GRCm39)	E275G	probably damaging	Het
Zfp280b	A	G	10: 75,875,296 (GRCm39)		probably null	Het
Zfp763	A	G	17: 33,238,507 (GRCm39)	Y213H	possibly damaging	Het
Zfp78	T	A	7: 6,381,528 (GRCm39)	W161R	probably benign	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
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
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'- CGCTGTACCTTAGAGAATTCTGG -3'
(R):5'- TGGAAACAACGTGGAATTCCTTC -3'

Sequencing Primer
(F):5'- ACCTTAGAGAATTCTGGCTAATGTC -3'
(R):5'- CATTAATATCCTCCAGATAGTTTGGC -3'

Posted On

2016-10-05