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

50357914-50363663 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50361469 bp (GRCm38)

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: 8,016,083	I4318F	possibly damaging	Het
Btrc	G	A	19: 45,513,480	D213N	probably damaging	Het
C4b	T	A	17: 34,734,743	I964F	possibly damaging	Het
Cacna1f	G	T	X: 7,609,974	A123S	probably damaging	Het
Ccdc153	G	A	9: 44,243,592	A71T	probably damaging	Het
Celsr3	C	A	9: 108,829,847	D1176E	possibly damaging	Het
Cfap46	A	C	7: 139,650,952	V920G	probably damaging	Het
Cnot10	T	A	9: 114,631,881	K74*	probably null	Het
Dnajb12	T	C	10: 59,879,766	F30S	probably damaging	Het
Emilin3	T	C	2: 160,908,486	R401G	probably benign	Het
F5	A	G	1: 164,184,950	T478A	probably damaging	Het
Hspa4l	C	A	3: 40,766,809		probably null	Het
Il1rl2	G	T	1: 40,351,791	R298L	probably benign	Het
Lipo2	A	T	19: 33,721,708	S307R	probably damaging	Het
Lrit2	T	A	14: 37,072,119	L380Q	probably damaging	Het
Ncan	A	G	8: 70,115,211	S84P	probably damaging	Het
Ncoa2	T	C	1: 13,180,547	I304V	probably damaging	Het
Nfe2l2	T	C	2: 75,679,428	D16G	probably damaging	Het
Nt5dc1	T	C	10: 34,310,381	D397G	probably benign	Het
Obsl1	A	C	1: 75,488,049	L1576R	possibly damaging	Het
Olfr110	T	C	17: 37,499,379	S243P	probably damaging	Het
Olfr491	A	T	7: 108,317,106	I71F	probably benign	Het
Olfr805	A	G	10: 129,723,412	I44T	probably damaging	Het
Pcdh17	A	G	14: 84,448,286	E731G	probably damaging	Het
Rag1	T	A	2: 101,642,943	K618M	probably damaging	Het
Ripor2	C	T	13: 24,721,711	P947S	probably benign	Het
Rnf150	A	G	8: 82,864,115	K36E	probably benign	Het
S100a9	T	C	3: 90,692,774	H105R	unknown	Het
Spindoc	T	C	19: 7,373,854	D246G	possibly damaging	Het
St8sia4	A	T	1: 95,591,792	Y324N	possibly damaging	Het
Trpm3	A	G	19: 22,978,330	T1090A	probably benign	Het
Ube4a	T	C	9: 44,960,081	N7D	probably damaging	Het

Other mutations in Tlr11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Tlr11	APN	14	50360916	missense	probably benign
IGL02090:Tlr11	APN	14	50363032	missense	probably damaging	0.99
IGL02286:Tlr11	APN	14	50360871	missense	possibly damaging	0.91
IGL02671:Tlr11	APN	14	50360692	missense	probably damaging	1.00
IGL03064:Tlr11	APN	14	50361100	missense	probably damaging	1.00
IGL03068:Tlr11	APN	14	50361484	missense	probably benign
R0099:Tlr11	UTSW	14	50360818	missense	probably benign	0.14
R0727:Tlr11	UTSW	14	50361469	missense	possibly damaging	0.67
R0944:Tlr11	UTSW	14	50362336	missense	probably benign	0.12
R1490:Tlr11	UTSW	14	50363176	missense	probably benign	0.00
R1726:Tlr11	UTSW	14	50361541	missense	probably benign	0.00
R1803:Tlr11	UTSW	14	50360647	missense	probably benign	0.00
R1908:Tlr11	UTSW	14	50361207	missense	probably benign	0.00
R1971:Tlr11	UTSW	14	50361234	missense	probably benign
R1981:Tlr11	UTSW	14	50361988	missense	possibly damaging	0.95
R2023:Tlr11	UTSW	14	50362569	missense	probably damaging	0.96
R2079:Tlr11	UTSW	14	50360980	missense	probably damaging	0.99
R2155:Tlr11	UTSW	14	50360682	missense	probably benign	0.01
R2251:Tlr11	UTSW	14	50360792	missense	probably benign	0.02
R3017:Tlr11	UTSW	14	50362721	nonsense	probably null
R3760:Tlr11	UTSW	14	50362243	missense	probably damaging	1.00
R3876:Tlr11	UTSW	14	50363154	missense	probably benign
R3936:Tlr11	UTSW	14	50362735	missense	possibly damaging	0.78
R4002:Tlr11	UTSW	14	50362527	missense	probably benign
R4024:Tlr11	UTSW	14	50362846	missense	probably benign	0.02
R4118:Tlr11	UTSW	14	50363227	missense	probably damaging	1.00
R4222:Tlr11	UTSW	14	50361849	missense	probably damaging	0.99
R4678:Tlr11	UTSW	14	50360982	missense	possibly damaging	0.85
R4779:Tlr11	UTSW	14	50361250	missense	possibly damaging	0.76
R4910:Tlr11	UTSW	14	50362889	missense	probably benign	0.45
R4921:Tlr11	UTSW	14	50362885	missense	possibly damaging	0.48
R5114:Tlr11	UTSW	14	50363121	missense	possibly damaging	0.81
R5126:Tlr11	UTSW	14	50360830	missense	probably damaging	1.00
R5349:Tlr11	UTSW	14	50360880	missense	probably benign	0.45
R5606:Tlr11	UTSW	14	50362260	missense	probably benign	0.08
R5650:Tlr11	UTSW	14	50361201	missense	probably benign	0.03
R5958:Tlr11	UTSW	14	50360777	missense	probably damaging	0.99
R5966:Tlr11	UTSW	14	50362255	missense	probably benign	0.02
R6480:Tlr11	UTSW	14	50363055	missense	possibly damaging	0.62
R6484:Tlr11	UTSW	14	50362678	missense	probably damaging	0.99
R6679:Tlr11	UTSW	14	50362854	missense	probably benign	0.00
R6717:Tlr11	UTSW	14	50362104	missense	probably benign
R7085:Tlr11	UTSW	14	50362656	missense	probably damaging	0.99
R7241:Tlr11	UTSW	14	50362141	missense	possibly damaging	0.95
R7440:Tlr11	UTSW	14	50361344	missense	probably benign	0.00
R7482:Tlr11	UTSW	14	50362999	missense	probably damaging	0.99
R7582:Tlr11	UTSW	14	50361729	nonsense	probably null
R7790:Tlr11	UTSW	14	50361925	missense	probably benign
R7818:Tlr11	UTSW	14	50361828	missense	probably damaging	1.00
R7827:Tlr11	UTSW	14	50361154	missense	probably benign	0.00
R8144:Tlr11	UTSW	14	50362488	missense	probably damaging	0.99
R8847:Tlr11	UTSW	14	50362725	missense	possibly damaging	0.85
R9027:Tlr11	UTSW	14	50361292	missense	probably damaging	1.00
R9035:Tlr11	UTSW	14	50360977	missense	probably benign	0.00
R9393:Tlr11	UTSW	14	50362090	missense	probably benign	0.03
RF002:Tlr11	UTSW	14	50361225	missense	possibly damaging	0.63
Z1088:Tlr11	UTSW	14	50362338	missense	possibly damaging	0.48
Z1176:Tlr11	UTSW	14	50360662	missense	probably damaging	1.00
Z1176:Tlr11	UTSW	14	50362336	missense	probably benign	0.40

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