Mutagenetix > Incidental Mutation

Incidental Mutation 'R7482:Tlr11'

579872

Institutional Source

Beutler Lab

Gene Symbol

Tlr11

Ensembl Gene

ENSMUSG00000051969

Gene Name

toll-like receptor 11

Synonyms

LOC239081

MMRRC Submission

045556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50595371-50601120 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50600456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 814 (C814F)

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: C809F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: C809F

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: C814F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: C814F

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	G	A	13: 111,392,673 (GRCm39)	R336H	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ap2a2	C	T	7: 141,182,210 (GRCm39)	P180S	possibly damaging	Het
Arfgef2	T	C	2: 166,693,199 (GRCm39)		probably null	Het
Arhgef25	A	T	10: 127,021,540 (GRCm39)	M226K	probably damaging	Het
Brd7	T	C	8: 89,088,254 (GRCm39)	D45G	probably damaging	Het
Bsn	C	A	9: 107,990,728 (GRCm39)	V1675F	probably damaging	Het
Chtf18	C	A	17: 25,938,963 (GRCm39)	R820L	possibly damaging	Het
Cldn7	A	G	11: 69,856,865 (GRCm39)	D38G	possibly damaging	Het
Clpb	T	C	7: 101,435,926 (GRCm39)	V615A	possibly damaging	Het
Cntnap4	T	C	8: 113,460,194 (GRCm39)		probably null	Het
Dchs2	T	A	3: 83,156,032 (GRCm39)	S798T	possibly damaging	Het
Ect2l	A	T	10: 18,044,202 (GRCm39)	M311K	probably benign	Het
Hectd4	T	A	5: 121,501,941 (GRCm39)	C4225S	possibly damaging	Het
Hecw2	T	C	1: 54,079,629 (GRCm39)	H8R	probably damaging	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Itgb2l	T	C	16: 96,228,033 (GRCm39)	E490G	probably benign	Het
Jakmip3	T	A	7: 138,627,228 (GRCm39)	C411S	possibly damaging	Het
Klhl24	A	G	16: 19,933,405 (GRCm39)	T339A	possibly damaging	Het
Mctp1	A	T	13: 76,889,579 (GRCm39)		probably null	Het
Mlf1	T	A	3: 67,300,227 (GRCm39)	H81Q	probably benign	Het
Muc4	T	A	16: 32,587,324 (GRCm39)	Y652N		Het
Myo9b	A	G	8: 71,795,442 (GRCm39)	S804G	probably benign	Het
Or8b1	T	G	9: 38,399,747 (GRCm39)	C141G	probably damaging	Het
Pramel58	T	C	5: 94,830,739 (GRCm39)	I79T	possibly damaging	Het
Rab11fip5	T	C	6: 85,317,760 (GRCm39)	E1043G	probably benign	Het
Radil	A	G	5: 142,472,518 (GRCm39)	V941A	probably benign	Het
Senp8	A	G	9: 59,644,943 (GRCm39)	V71A	probably damaging	Het
Sh2d4a	G	A	8: 68,749,328 (GRCm39)	A121T	probably benign	Het
Stx17	A	G	4: 48,181,722 (GRCm39)	D297G	possibly damaging	Het
Tas2r105	A	T	6: 131,663,972 (GRCm39)	M152K	probably benign	Het
Tsc22d1	T	C	14: 76,655,927 (GRCm39)	V802A	probably benign	Het
Vmn1r234	A	G	17: 21,449,637 (GRCm39)	N184D	probably benign	Het
Vmn2r114	T	C	17: 23,510,468 (GRCm39)	K671E	probably damaging	Het
Vmn2r27	A	G	6: 124,201,220 (GRCm39)	F246L	probably damaging	Het
Xpo1	T	G	11: 23,232,544 (GRCm39)	L355V	probably benign	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
R4365:Tlr11	UTSW	14	50,598,926 (GRCm39)	missense	probably damaging	0.98
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
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'- ATGGTCCTGGCTTCATCACC -3'
(R):5'- CCTATCAAGGGGCTCCAGAAAC -3'

Sequencing Primer
(F):5'- GGCTTCATCACCTCTGGACAC -3'
(R):5'- CAGCAGGAGATGAGTGGTCCC -3'

Posted On

2019-10-07