Mutagenetix > Incidental Mutation

Incidental Mutation 'R1490:Tlr11'

163676

Institutional Source

Beutler Lab

Gene Symbol

Tlr11

Ensembl Gene

ENSMUSG00000051969

Gene Name

toll-like receptor 11

Synonyms

LOC239081

MMRRC Submission

039542-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1490 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50357914-50363663 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 50363176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 873 (H873P)

Ref Sequence

ENSEMBL: ENSMUSP00000138814 (fasta)

Gene Model

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

AlphaFold

Q6R5P0

Predicted Effect

probably benign
Transcript: ENSMUST00000063570
AA Change: H868P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: H868P

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 benign
Transcript: ENSMUST00000185091
AA Change: H873P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: H873P

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	A	G	19: 11,141,538	I69T	probably benign	Het
Aldh1l2	G	A	10: 83,520,370	T52I	probably damaging	Het
Arhgef28	G	A	13: 97,978,444	R633W	probably damaging	Het
Atg9a	T	C	1: 75,185,745	N507S	possibly damaging	Het
Bsn	A	G	9: 108,113,994	S1520P	probably benign	Het
Cacul1	G	T	19: 60,580,399	A107E	probably damaging	Het
Cd74	A	G	18: 60,811,366	D216G	probably damaging	Het
Cdh16	A	T	8: 104,622,070	W109R	probably damaging	Het
Cdip1	C	T	16: 4,768,911	V100I	probably damaging	Het
Ceacam3	A	G	7: 17,163,146	D679G	probably damaging	Het
Comp	A	G	8: 70,373,913	D46G	possibly damaging	Het
Dlx3	T	C	11: 95,120,604	Y95H	probably benign	Het
Dmrta2	T	C	4: 109,979,875	S5P	unknown	Het
E130308A19Rik	A	G	4: 59,719,746	Y426C	probably damaging	Het
Entpd3	A	G	9: 120,554,159	S87G	probably benign	Het
Eps8l1	A	G	7: 4,470,889	R232G	probably damaging	Het
Gart	A	T	16: 91,624,344	V812D	probably damaging	Het
Gm10153	C	T	7: 142,190,142	C83Y	unknown	Het
Gpd2	T	C	2: 57,355,475	V394A	probably damaging	Het
Hpcal1	A	T	12: 17,786,224	E18D	probably benign	Het
Mdga2	T	C	12: 66,797,756	D156G	probably benign	Het
Mks1	A	G	11: 87,862,769	K510E	probably benign	Het
Mtmr4	G	A	11: 87,612,225	R1035Q	probably damaging	Het
Myh6	T	A	14: 54,962,718	K235*	probably null	Het
Nedd1	A	G	10: 92,700,798	F214S	probably damaging	Het
Olfr166	T	C	16: 19,486,922	M28T	probably benign	Het
Olfr392	A	G	11: 73,814,371	V237A	possibly damaging	Het
Olfr672	A	G	7: 104,996,493	I137T	possibly damaging	Het
Olfr98	A	G	17: 37,262,842	M274T	probably benign	Het
Pfkfb2	A	C	1: 130,697,889		probably null	Het
Pfkfb4	T	C	9: 109,027,620	L398P	probably damaging	Het
Pfn3	T	G	13: 55,414,919	D83A	probably damaging	Het
Pi4ka	C	A	16: 17,386,268	W54L	probably damaging	Het
Ppp3r1	A	G	11: 17,198,275	D161G	probably benign	Het
Prrc2a	A	G	17: 35,153,254	S1757P	probably benign	Het
Samd7	A	G	3: 30,758,353	E314G	probably benign	Het
Slc17a4	A	G	13: 23,904,753	I217T	probably benign	Het
Slc22a1	A	T	17: 12,662,893		probably null	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Sos1	A	T	17: 80,413,675	H905Q	probably benign	Het
Thada	G	A	17: 84,446,601	T314I	possibly damaging	Het
Tirap	ACTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTG	9: 35,189,066		probably benign	Het
Tlr4	A	T	4: 66,839,374	T135S	possibly damaging	Het
Tmem116	T	C	5: 121,495,111	S183P	probably damaging	Het
Tubgcp3	A	T	8: 12,639,550	I572K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	T	1: 188,359,841	T523I	probably benign	Het
Usp40	G	A	1: 87,988,965	Q364*	probably null	Het
Vmn1r61	T	C	7: 5,611,243	Q24R	probably benign	Het
Wdfy4	C	A	14: 33,152,538		probably null	Het
Zfp458	G	A	13: 67,257,509	P286S	probably damaging	Het
Zfp68	A	T	5: 138,606,829	C373S	probably benign	Het
Zfp768	T	A	7: 127,343,631	I442F	probably damaging	Het
Zfp990	A	G	4: 145,537,283	R284G	probably benign	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
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
R4365:Tlr11	UTSW	14	50361469	missense	probably damaging	0.98
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'- AGAAAGCCCCTCCTGAAGGTGAAG -3'
(R):5'- GCACATTCCCTCTGCTGCTGAAAG -3'

Sequencing Primer
(F):5'- CCTCCTGAAGGTGAAGGCTTG -3'
(R):5'- GGATCTTCTGCACAACAGCATTC -3'

Posted On

2014-03-28