Mutagenetix > Incidental Mutation

Incidental Mutation 'R3760:Tlr11'

270515

Institutional Source

Beutler Lab

Gene Symbol

Tlr11

Ensembl Gene

ENSMUSG00000051969

Gene Name

toll-like receptor 11

Synonyms

LOC239081

MMRRC Submission

040740-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50595371-50601120 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50599700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 562 (E562V)

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: E557V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: E557V

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: E562V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: E562V

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,522,871 (GRCm39)	E1448G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
Ell2	A	T	13: 75,910,281 (GRCm39)	Q163L	probably benign	Het
Epha6	T	A	16: 60,041,347 (GRCm39)	T423S	possibly damaging	Het
Fhad1	T	C	4: 141,637,124 (GRCm39)	E1114G	probably damaging	Het
Gpr83	A	T	9: 14,772,034 (GRCm39)	T69S	probably benign	Het
Gramd1c	A	T	16: 43,818,154 (GRCm39)	M342K	probably damaging	Het
H3c7	T	C	13: 23,728,985 (GRCm39)	C111R	probably damaging	Het
Idua	T	C	5: 108,817,978 (GRCm39)		probably benign	Het
Kcnh1	T	C	1: 192,188,332 (GRCm39)	L931P	probably damaging	Het
Map2	T	A	1: 66,478,077 (GRCm39)	S470T	probably damaging	Het
Map7	T	C	10: 20,152,027 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,919,406 (GRCm39)	L6213P	probably damaging	Het
Or5b109	T	C	19: 13,212,250 (GRCm39)	L212P	probably damaging	Het
Or8k38	G	A	2: 86,488,232 (GRCm39)	S190L	possibly damaging	Het
Pcnx4	C	T	12: 72,613,780 (GRCm39)	T575M	probably damaging	Het
Ppp1r12a	A	G	10: 108,100,595 (GRCm39)	D348G	probably damaging	Het
Prrc2c	T	C	1: 162,520,420 (GRCm39)	N730S	probably damaging	Het
Serpinb3d	C	T	1: 107,009,304 (GRCm39)		probably benign	Het
Skint6	T	C	4: 112,794,655 (GRCm39)	T705A	possibly damaging	Het
Slc6a20a	A	G	9: 123,492,054 (GRCm39)	I50T	probably damaging	Het
Taf13	T	C	3: 108,485,424 (GRCm39)		probably benign	Het
Uhrf2	T	C	19: 30,051,331 (GRCm39)	S302P	probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Unc79	T	A	12: 103,058,964 (GRCm39)	L1036Q	probably damaging	Het
Vmn1r85	A	T	7: 12,818,932 (GRCm39)	S71T	probably damaging	Het
Vmn2r-ps158	G	A	7: 42,673,502 (GRCm39)	E187K	probably benign	Het
Vps52	T	C	17: 34,179,162 (GRCm39)	F200L	possibly damaging	Het
Zfp521	T	C	18: 13,977,686 (GRCm39)	H909R	possibly 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
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
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'- TGGACAGCCATTCTTATTCTTGG -3'
(R):5'- GAGGTCCTGCAAGCTCTTAAAG -3'

Sequencing Primer
(F):5'- TGGAGAACCTTACCTTAGAGACTTCC -3'
(R):5'- CACAGAGAGGTTCCTGAGATTC -3'

Posted On

2015-03-18