Mutagenetix > Incidental Mutation

Incidental Mutation 'R5606:Tlr11'

439310

Institutional Source

Beutler Lab

Gene Symbol

Tlr11

Ensembl Gene

ENSMUSG00000051969

Gene Name

toll-like receptor 11

Synonyms

LOC239081

MMRRC Submission

043157-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50595371-50601120 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50599717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 568 (C568R)

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: C563R

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: C563R

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: C568R

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: C568R

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a7	A	G	19: 20,699,731 (GRCm39)	S75P	probably damaging	Het
Ankib1	A	T	5: 3,751,907 (GRCm39)	I711N	probably damaging	Het
Ankmy2	A	G	12: 36,215,920 (GRCm39)	N40S	probably benign	Het
Armc8	T	C	9: 99,418,315 (GRCm39)	K80E	probably benign	Het
Blm	C	A	7: 80,110,580 (GRCm39)		probably null	Het
Cand1	C	A	10: 119,047,359 (GRCm39)	Q710H	possibly damaging	Het
Ckap2l	A	T	2: 129,127,959 (GRCm39)	I73N	probably damaging	Het
Ddx27	T	A	2: 166,861,886 (GRCm39)	D129E	probably benign	Het
Dnm3	T	C	1: 162,113,587 (GRCm39)	E491G	probably damaging	Het
Fgd6	C	A	10: 93,974,190 (GRCm39)	Y1310*	probably null	Het
Hnrnph3	C	T	10: 62,855,222 (GRCm39)	R21H	possibly damaging	Het
Hs3st4	C	A	7: 123,996,365 (GRCm39)	Q344K	probably damaging	Het
Hyal3	T	C	9: 107,462,265 (GRCm39)	S100P	probably benign	Het
Map3k19	G	A	1: 127,750,694 (GRCm39)	R886C	probably benign	Het
Mmrn2	G	A	14: 34,119,581 (GRCm39)	D187N	probably damaging	Het
Myo5c	G	A	9: 75,182,790 (GRCm39)	A810T	probably damaging	Het
Noxa1	T	A	2: 24,976,292 (GRCm39)	E332V	possibly damaging	Het
Or10al7	T	C	17: 38,365,693 (GRCm39)	T264A	probably damaging	Het
Or12j5	T	A	7: 140,083,713 (GRCm39)	I220F	probably damaging	Het
Or51r1	T	C	7: 102,228,481 (GRCm39)	S260P	probably damaging	Het
Or7c70	A	G	10: 78,683,395 (GRCm39)	M118T	probably benign	Het
Parg	T	A	14: 31,984,693 (GRCm39)	V241E	probably damaging	Het
Pitrm1	T	A	13: 6,610,101 (GRCm39)	V391D	probably damaging	Het
Plch1	A	T	3: 63,648,108 (GRCm39)	V421E	probably benign	Het
Slc27a2	C	T	2: 126,406,610 (GRCm39)	A98V	probably damaging	Het
Spta1	A	T	1: 174,047,468 (GRCm39)	H1704L	probably damaging	Het
Tbpl2	G	A	2: 23,977,245 (GRCm39)	P258S	possibly damaging	Het
Thoc2l	T	C	5: 104,669,744 (GRCm39)	I1422T	probably benign	Het
Tmem260	T	A	14: 48,722,437 (GRCm39)	M324K	probably damaging	Het
Tmprss11g	T	A	5: 86,635,269 (GRCm39)	T402S	probably damaging	Het
Trim21	C	G	7: 102,208,813 (GRCm39)	R302P	probably damaging	Het
Uox	T	A	3: 146,316,057 (GRCm39)	Y21*	probably null	Het
Vmn1r74	A	G	7: 11,580,822 (GRCm39)	M41V	probably benign	Het
Vmn2r59	A	C	7: 41,695,318 (GRCm39)	S365A	probably benign	Het
Zfp345	A	T	2: 150,316,788 (GRCm39)	Y6*	probably null	Het
Zpld2	A	C	4: 133,927,523 (GRCm39)	V410G	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
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'- TGGAGAACCTTACCTTAGAGACTTC -3'
(R):5'- AAGAGCAGCAGTTTGAGGTC -3'

Sequencing Primer
(F):5'- GAACCTTACCTTAGAGACTTCCATTC -3'
(R):5'- TGAGGTCCTGCAAGCTCTTAAAG -3'

Posted On

2016-10-26