Mutagenetix > Incidental Mutation

Incidental Mutation 'R4002:Tlr11'

311321

Institutional Source

Beutler Lab

Gene Symbol

Tlr11

Ensembl Gene

ENSMUSG00000051969

Gene Name

toll-like receptor 11

Synonyms

LOC239081

MMRRC Submission

041609-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50595371-50601120 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50599984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 657 (F657L)

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: F652L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: F652L

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: F657L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: F657L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (29/30)

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,274,964 (GRCm39)	N222K	possibly damaging	Het
Abca13	A	T	11: 9,535,415 (GRCm39)	M4680L	probably benign	Het
Adgrv1	GA	GAA	13: 81,688,251 (GRCm39)		probably null	Het
Afdn	T	C	17: 14,104,179 (GRCm39)	S1157P	probably damaging	Het
Ank1	A	G	8: 23,629,479 (GRCm39)	T63A	probably damaging	Het
Asah1	A	G	8: 41,801,176 (GRCm39)		probably benign	Het
Cdh18	T	A	15: 23,383,048 (GRCm39)	L277I	possibly damaging	Het
Ces3a	A	T	8: 105,784,093 (GRCm39)	D431V	probably damaging	Het
Dbx1	T	C	7: 49,286,265 (GRCm39)	S67G	probably benign	Het
Dmxl2	A	G	9: 54,381,116 (GRCm39)		probably benign	Het
Dnah7a	T	A	1: 53,670,840 (GRCm39)	T471S	probably benign	Het
Efcab8	A	T	2: 153,623,726 (GRCm39)	K70N	probably benign	Het
Grcc10	A	T	6: 124,717,933 (GRCm39)	M1K	probably null	Het
Higd2a	G	C	13: 54,738,540 (GRCm39)	C53S	probably damaging	Het
Kcna4	C	T	2: 107,126,259 (GRCm39)	P331L	probably damaging	Het
Keg1	T	A	19: 12,696,307 (GRCm39)	S164T	possibly damaging	Het
Ltbp1	T	C	17: 75,617,154 (GRCm39)	V1031A	probably benign	Het
Obsl1	G	A	1: 75,476,743 (GRCm39)	T737I	possibly damaging	Het
Or10al7	G	A	17: 38,365,879 (GRCm39)	L193F	probably damaging	Het
Or7g33	C	T	9: 19,449,202 (GRCm39)	R8K	probably benign	Het
Or7g35	T	G	9: 19,496,010 (GRCm39)	M59R	probably damaging	Het
Serpinb6d	A	G	13: 33,854,630 (GRCm39)	M202V	probably damaging	Het
Tcf19	A	G	17: 35,826,822 (GRCm39)		probably null	Het
Ttf2	G	A	3: 100,855,541 (GRCm39)	Q96*	probably null	Het
Ube2frt	G	A	12: 36,140,635 (GRCm39)		probably benign	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zfp810	C	T	9: 22,190,188 (GRCm39)	C240Y	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
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
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'- TCAAGTACTATGAAGCTAGAGATGC -3'
(R):5'- TGAAACTGGTGAGAAAGCCCC -3'

Sequencing Primer
(F):5'- CTAGAGATGCTATTGAAGGAGGTACC -3'
(R):5'- CTCAGTACCGTGTGGACAATTAG -3'

Posted On

2015-04-29