Mutagenetix > Incidental Mutation

Incidental Mutation 'R4365:Tlr11'

325717

Institutional Source

Beutler Lab

Gene Symbol

Tlr11

Ensembl Gene

ENSMUSG00000051969

Gene Name

toll-like receptor 11

Synonyms

LOC239081

MMRRC Submission

041113-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4365 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50595371-50601120 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50598926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 304 (I304N)

Ref Sequence

ENSEMBL: ENSMUSP00000138814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063570] [ENSMUST00000185091]

AlphaFold

Q6R5P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000063570
AA Change: I299N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: I299N

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	105	122	N/A	INTRINSIC
low complexity region	153	161	N/A	INTRINSIC
LRR	311	333	3.36e1	SMART
LRR	335	361	4.44e0	SMART
LRR	362	383	2.03e1	SMART
LRR_TYP	384	407	2.57e-3	SMART
LRR_TYP	408	431	2.75e-3	SMART
low complexity region	544	556	N/A	INTRINSIC
LRR	605	628	6.06e1	SMART
transmembrane domain	719	741	N/A	INTRINSIC
Pfam:TIR	773	922	2.1e-9	PFAM
Pfam:TIR_2	776	894	6.6e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185091
AA Change: I304N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: I304N

Domain	Start	End	E-Value	Type
transmembrane domain	16	38	N/A	INTRINSIC
low complexity region	110	127	N/A	INTRINSIC
low complexity region	158	166	N/A	INTRINSIC
Pfam:LRR_6	221	244	5.3e-2	PFAM
LRR	316	338	3.36e1	SMART
LRR	340	366	4.44e0	SMART
LRR	367	388	2.03e1	SMART
LRR_TYP	389	412	2.57e-3	SMART
LRR_TYP	413	436	2.75e-3	SMART
low complexity region	549	561	N/A	INTRINSIC
LRR	610	633	6.06e1	SMART
transmembrane domain	724	746	N/A	INTRINSIC
Pfam:TIR_2	781	898	1e-12	PFAM
Pfam:TIR	781	922	1.8e-13	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	A	T	12: 8,066,083 (GRCm39)	I4318F	possibly damaging	Het
Btrc	G	A	19: 45,501,919 (GRCm39)	D213N	probably damaging	Het
C4b	T	A	17: 34,953,717 (GRCm39)	I964F	possibly damaging	Het
Cacna1f	G	T	X: 7,476,213 (GRCm39)	A123S	probably damaging	Het
Ccdc153	G	A	9: 44,154,889 (GRCm39)	A71T	probably damaging	Het
Celsr3	C	A	9: 108,707,046 (GRCm39)	D1176E	possibly damaging	Het
Cfap46	A	C	7: 139,230,868 (GRCm39)	V920G	probably damaging	Het
Cnot10	T	A	9: 114,460,949 (GRCm39)	K74*	probably null	Het
Dnajb12	T	C	10: 59,715,588 (GRCm39)	F30S	probably damaging	Het
Emilin3	T	C	2: 160,750,406 (GRCm39)	R401G	probably benign	Het
F5	A	G	1: 164,012,519 (GRCm39)	T478A	probably damaging	Het
Hspa4l	C	A	3: 40,721,241 (GRCm39)		probably null	Het
Il1rl2	G	T	1: 40,390,951 (GRCm39)	R298L	probably benign	Het
Lipo2	A	T	19: 33,699,108 (GRCm39)	S307R	probably damaging	Het
Lrit2	T	A	14: 36,794,076 (GRCm39)	L380Q	probably damaging	Het
Ncan	A	G	8: 70,567,861 (GRCm39)	S84P	probably damaging	Het
Ncoa2	T	C	1: 13,250,771 (GRCm39)	I304V	probably damaging	Het
Nfe2l2	T	C	2: 75,509,772 (GRCm39)	D16G	probably damaging	Het
Nt5dc1	T	C	10: 34,186,377 (GRCm39)	D397G	probably benign	Het
Obsl1	A	C	1: 75,464,693 (GRCm39)	L1576R	possibly damaging	Het
Or5p1	A	T	7: 107,916,313 (GRCm39)	I71F	probably benign	Het
Or5v1	T	C	17: 37,810,270 (GRCm39)	S243P	probably damaging	Het
Or6c212	A	G	10: 129,559,281 (GRCm39)	I44T	probably damaging	Het
Pcdh17	A	G	14: 84,685,726 (GRCm39)	E731G	probably damaging	Het
Rag1	T	A	2: 101,473,288 (GRCm39)	K618M	probably damaging	Het
Ripor2	C	T	13: 24,905,694 (GRCm39)	P947S	probably benign	Het
Rnf150	A	G	8: 83,590,744 (GRCm39)	K36E	probably benign	Het
S100a9	T	C	3: 90,600,081 (GRCm39)	H105R	unknown	Het
Spindoc	T	C	19: 7,351,219 (GRCm39)	D246G	possibly damaging	Het
St8sia4	A	T	1: 95,519,517 (GRCm39)	Y324N	possibly damaging	Het
Trpm3	A	G	19: 22,955,694 (GRCm39)	T1090A	probably benign	Het
Ube4a	T	C	9: 44,871,379 (GRCm39)	N7D	probably damaging	Het

Other mutations in Tlr11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Tlr11	APN	14	50,598,373 (GRCm39)	missense	probably benign
IGL02090:Tlr11	APN	14	50,600,489 (GRCm39)	missense	probably damaging	0.99
IGL02286:Tlr11	APN	14	50,598,328 (GRCm39)	missense	possibly damaging	0.91
IGL02671:Tlr11	APN	14	50,598,149 (GRCm39)	missense	probably damaging	1.00
IGL03064:Tlr11	APN	14	50,598,557 (GRCm39)	missense	probably damaging	1.00
IGL03068:Tlr11	APN	14	50,598,941 (GRCm39)	missense	probably benign
R0099:Tlr11	UTSW	14	50,598,275 (GRCm39)	missense	probably benign	0.14
R0727:Tlr11	UTSW	14	50,598,926 (GRCm39)	missense	possibly damaging	0.67
R0944:Tlr11	UTSW	14	50,599,793 (GRCm39)	missense	probably benign	0.12
R1490:Tlr11	UTSW	14	50,600,633 (GRCm39)	missense	probably benign	0.00
R1726:Tlr11	UTSW	14	50,598,998 (GRCm39)	missense	probably benign	0.00
R1803:Tlr11	UTSW	14	50,598,104 (GRCm39)	missense	probably benign	0.00
R1908:Tlr11	UTSW	14	50,598,664 (GRCm39)	missense	probably benign	0.00
R1971:Tlr11	UTSW	14	50,598,691 (GRCm39)	missense	probably benign
R1981:Tlr11	UTSW	14	50,599,445 (GRCm39)	missense	possibly damaging	0.95
R2023:Tlr11	UTSW	14	50,600,026 (GRCm39)	missense	probably damaging	0.96
R2079:Tlr11	UTSW	14	50,598,437 (GRCm39)	missense	probably damaging	0.99
R2155:Tlr11	UTSW	14	50,598,139 (GRCm39)	missense	probably benign	0.01
R2251:Tlr11	UTSW	14	50,598,249 (GRCm39)	missense	probably benign	0.02
R3017:Tlr11	UTSW	14	50,600,178 (GRCm39)	nonsense	probably null
R3760:Tlr11	UTSW	14	50,599,700 (GRCm39)	missense	probably damaging	1.00
R3876:Tlr11	UTSW	14	50,600,611 (GRCm39)	missense	probably benign
R3936:Tlr11	UTSW	14	50,600,192 (GRCm39)	missense	possibly damaging	0.78
R4002:Tlr11	UTSW	14	50,599,984 (GRCm39)	missense	probably benign
R4024:Tlr11	UTSW	14	50,600,303 (GRCm39)	missense	probably benign	0.02
R4118:Tlr11	UTSW	14	50,600,684 (GRCm39)	missense	probably damaging	1.00
R4222:Tlr11	UTSW	14	50,599,306 (GRCm39)	missense	probably damaging	0.99
R4678:Tlr11	UTSW	14	50,598,439 (GRCm39)	missense	possibly damaging	0.85
R4779:Tlr11	UTSW	14	50,598,707 (GRCm39)	missense	possibly damaging	0.76
R4910:Tlr11	UTSW	14	50,600,346 (GRCm39)	missense	probably benign	0.45
R4921:Tlr11	UTSW	14	50,600,342 (GRCm39)	missense	possibly damaging	0.48
R5114:Tlr11	UTSW	14	50,600,578 (GRCm39)	missense	possibly damaging	0.81
R5126:Tlr11	UTSW	14	50,598,287 (GRCm39)	missense	probably damaging	1.00
R5349:Tlr11	UTSW	14	50,598,337 (GRCm39)	missense	probably benign	0.45
R5606:Tlr11	UTSW	14	50,599,717 (GRCm39)	missense	probably benign	0.08
R5650:Tlr11	UTSW	14	50,598,658 (GRCm39)	missense	probably benign	0.03
R5958:Tlr11	UTSW	14	50,598,234 (GRCm39)	missense	probably damaging	0.99
R5966:Tlr11	UTSW	14	50,599,712 (GRCm39)	missense	probably benign	0.02
R6480:Tlr11	UTSW	14	50,600,512 (GRCm39)	missense	possibly damaging	0.62
R6484:Tlr11	UTSW	14	50,600,135 (GRCm39)	missense	probably damaging	0.99
R6679:Tlr11	UTSW	14	50,600,311 (GRCm39)	missense	probably benign	0.00
R6717:Tlr11	UTSW	14	50,599,561 (GRCm39)	missense	probably benign
R7085:Tlr11	UTSW	14	50,600,113 (GRCm39)	missense	probably damaging	0.99
R7241:Tlr11	UTSW	14	50,599,598 (GRCm39)	missense	possibly damaging	0.95
R7440:Tlr11	UTSW	14	50,598,801 (GRCm39)	missense	probably benign	0.00
R7482:Tlr11	UTSW	14	50,600,456 (GRCm39)	missense	probably damaging	0.99
R7582:Tlr11	UTSW	14	50,599,186 (GRCm39)	nonsense	probably null
R7790:Tlr11	UTSW	14	50,599,382 (GRCm39)	missense	probably benign
R7818:Tlr11	UTSW	14	50,599,285 (GRCm39)	missense	probably damaging	1.00
R7827:Tlr11	UTSW	14	50,598,611 (GRCm39)	missense	probably benign	0.00
R8144:Tlr11	UTSW	14	50,599,945 (GRCm39)	missense	probably damaging	0.99
R8847:Tlr11	UTSW	14	50,600,182 (GRCm39)	missense	possibly damaging	0.85
R9027:Tlr11	UTSW	14	50,598,749 (GRCm39)	missense	probably damaging	1.00
R9035:Tlr11	UTSW	14	50,598,434 (GRCm39)	missense	probably benign	0.00
R9393:Tlr11	UTSW	14	50,599,547 (GRCm39)	missense	probably benign	0.03
RF002:Tlr11	UTSW	14	50,598,682 (GRCm39)	missense	possibly damaging	0.63
Z1088:Tlr11	UTSW	14	50,599,795 (GRCm39)	missense	possibly damaging	0.48
Z1176:Tlr11	UTSW	14	50,599,793 (GRCm39)	missense	probably benign	0.40
Z1176:Tlr11	UTSW	14	50,598,119 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTTCAGCTGAAACAGGCAG -3'
(R):5'- CTAAAGAGTCCTTCTGGAAGCTC -3'

Sequencing Primer
(F):5'- GTCAGAGACTTGTATGGCCTCAC -3'
(R):5'- CCAAGATTGGGCCAAGCTTATTC -3'

Posted On

2015-07-06