Mutagenetix > Incidental Mutation

Incidental Mutation 'R1400:Tlr7'

160364

Institutional Source

Beutler Lab

Gene Symbol

Tlr7

Ensembl Gene

ENSMUSG00000044583

Gene Name

toll-like receptor 7

Synonyms

MMRRC Submission

039462-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R1400 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

166087925-166113554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166090845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 214 (N214Y)

Ref Sequence

ENSEMBL: ENSMUSP00000107789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060719] [ENSMUST00000112161] [ENSMUST00000112164] [ENSMUST00000137492] [ENSMUST00000145284]

AlphaFold

P58681

Predicted Effect

probably damaging
Transcript: ENSMUST00000060719
AA Change: N214Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000061853
Gene: ENSMUSG00000044583
AA Change: N214Y

Domain	Start	End	E-Value	Type
LRRNT	35	69	5.03e-1	SMART
LRR	126	149	2.45e0	SMART
LRR	203	226	9.75e0	SMART
LRR_TYP	289	312	1.28e-3	SMART
LRR	313	337	2.08e1	SMART
LRR	396	419	9.22e0	SMART
LRR	497	516	1.09e2	SMART
LRR	542	565	4.97e0	SMART
LRR	596	619	2.76e2	SMART
LRR_TYP	650	673	1.72e-4	SMART
Pfam:LRR_7	676	692	7.2e-2	PFAM
LRR_TYP	699	722	1.58e-3	SMART
LRR	724	746	8.26e1	SMART
LRR	749	770	2.15e2	SMART
LRRCT	784	835	1.56e-3	SMART
transmembrane domain	851	873	N/A	INTRINSIC
Pfam:TIR	894	1033	4.7e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112161
AA Change: N214Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107787
Gene: ENSMUSG00000044583
AA Change: N214Y

Domain	Start	End	E-Value	Type
LRRNT	35	69	5.03e-1	SMART
LRR	126	149	2.45e0	SMART
LRR	203	226	9.75e0	SMART
LRR_TYP	289	312	1.28e-3	SMART
LRR	313	337	2.08e1	SMART
LRR	396	419	9.22e0	SMART
LRR	497	516	1.09e2	SMART
LRR	542	565	4.97e0	SMART
LRR	596	619	2.76e2	SMART
LRR_TYP	650	673	1.72e-4	SMART
Pfam:LRR_7	676	692	7.2e-2	PFAM
LRR_TYP	699	722	1.58e-3	SMART
LRR	724	746	8.26e1	SMART
LRR	749	770	2.15e2	SMART
LRRCT	784	835	1.56e-3	SMART
transmembrane domain	851	873	N/A	INTRINSIC
Pfam:TIR	894	1033	4.7e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112164
AA Change: N214Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107789
Gene: ENSMUSG00000044583
AA Change: N214Y

Domain	Start	End	E-Value	Type
LRRNT	35	69	5.03e-1	SMART
LRR	126	149	2.45e0	SMART
LRR	203	226	9.75e0	SMART
LRR_TYP	289	312	1.28e-3	SMART
LRR	313	337	2.08e1	SMART
LRR	396	419	9.22e0	SMART
LRR	497	516	1.09e2	SMART
LRR	542	565	4.97e0	SMART
LRR	596	619	2.76e2	SMART
LRR_TYP	650	673	1.72e-4	SMART
LRR_TYP	699	722	1.58e-3	SMART
LRR	724	746	8.26e1	SMART
LRR	749	770	2.15e2	SMART
LRRCT	784	835	1.56e-3	SMART
transmembrane domain	851	873	N/A	INTRINSIC
Pfam:TIR	891	1049	1.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137492

Predicted Effect

probably benign
Transcript: ENSMUST00000145284

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Jul 2008]
PHENOTYPE: The innate immune response to viral infection is affected in homozygous null mice. Mice homozygous or hemizygous for a point mutation produce little or no tumor necrosis factor (TNF) alpha in response to stimulation by a single stranded RNA analog. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,191,195 (GRCm39)	E78G	probably damaging	Het
Acsf2	T	C	11: 94,461,142 (GRCm39)	I345V	probably benign	Het
Akap11	T	A	14: 78,751,402 (GRCm39)	K328N	probably damaging	Het
Aoc1	T	A	6: 48,883,217 (GRCm39)	Y364*	probably null	Het
Aoc1	A	T	6: 48,883,645 (GRCm39)	Q507L	probably benign	Het
Atp6v1c2	T	C	12: 17,339,131 (GRCm39)	T207A	probably benign	Het
Atr	C	A	9: 95,744,901 (GRCm39)	Q73K	probably benign	Het
Cage1	A	G	13: 38,216,400 (GRCm39)	S17P	possibly damaging	Het
Cfap44	A	T	16: 44,241,575 (GRCm39)	I649F	probably benign	Het
Cops4	A	G	5: 100,681,412 (GRCm39)	K200R	probably damaging	Het
Crygd	A	G	1: 65,102,367 (GRCm39)	S32P	probably damaging	Het
Cyp3a11	A	G	5: 145,799,299 (GRCm39)	I296T	probably damaging	Het
Fads3	A	G	19: 10,033,664 (GRCm39)		probably null	Het
Fbn2	T	C	18: 58,213,265 (GRCm39)	E974G	possibly damaging	Het
Gcgr	A	G	11: 120,425,812 (GRCm39)	H45R	probably benign	Het
Gcn1	T	C	5: 115,752,220 (GRCm39)	I2112T	probably damaging	Het
Gm43302	A	T	5: 105,422,622 (GRCm39)	I470N	probably damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Krt13	C	A	11: 100,012,110 (GRCm39)	G71V	probably damaging	Het
Las1l	T	C	X: 94,990,506 (GRCm39)	T390A	possibly damaging	Het
Lifr	T	A	15: 7,220,346 (GRCm39)	V992E	probably benign	Het
Mbd5	T	C	2: 49,164,788 (GRCm39)		probably null	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Ndst3	A	G	3: 123,350,477 (GRCm39)	F636S	probably damaging	Het
Necab1	T	C	4: 14,975,185 (GRCm39)	D232G	possibly damaging	Het
Nlrp4e	A	T	7: 23,021,085 (GRCm39)	E524V	possibly damaging	Het
Nxf3	T	A	X: 134,976,794 (GRCm39)	T349S	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or4c12	T	A	2: 89,773,886 (GRCm39)	H191L	possibly damaging	Het
Or4n5	A	T	14: 50,133,148 (GRCm39)	I37K	possibly damaging	Het
Or7g29	A	G	9: 19,286,358 (GRCm39)	V273A	probably damaging	Het
Or9g19	T	C	2: 85,600,477 (GRCm39)	C111R	possibly damaging	Het
Plscr1l1	G	T	9: 92,233,180 (GRCm39)	C25F	probably benign	Het
Ppm1e	T	A	11: 87,122,592 (GRCm39)	N455I	probably damaging	Het
Prkag2	G	A	5: 25,078,916 (GRCm39)	T158I	probably damaging	Het
Ptpn18	T	C	1: 34,502,587 (GRCm39)		probably null	Het
Rai14	T	G	15: 10,571,634 (GRCm39)	K936N	probably damaging	Het
Rasgrf2	A	G	13: 92,035,808 (GRCm39)	L1077P	probably damaging	Het
Rgn	C	A	X: 20,416,696 (GRCm39)	Q27K	probably benign	Het
Ryr2	C	T	13: 11,609,962 (GRCm39)	S723N	probably benign	Het
Scamp1	A	G	13: 94,361,455 (GRCm39)	F142L	possibly damaging	Het
Selenon	A	G	4: 134,278,829 (GRCm39)	V67A	probably benign	Het
Slc5a5	T	C	8: 71,342,079 (GRCm39)	I292V	possibly damaging	Het
Smarca2	C	A	19: 26,654,140 (GRCm39)	T775K	probably damaging	Het
Stab1	C	T	14: 30,861,787 (GRCm39)	V2437I	possibly damaging	Het
Tas2r143	C	T	6: 42,377,317 (GRCm39)	A49V	probably benign	Het
Unc13a	C	A	8: 72,103,865 (GRCm39)	D856Y	probably damaging	Het
Upp2	T	C	2: 58,680,118 (GRCm39)	Y263H	probably damaging	Het
Vill	T	C	9: 118,892,415 (GRCm39)	S349P	probably benign	Het
Zfp644	T	C	5: 106,785,336 (GRCm39)		probably null	Het
Zfp664	T	C	5: 124,963,217 (GRCm39)	C204R	unknown	Het
Zfp729b	A	G	13: 67,740,913 (GRCm39)	Y451H	possibly damaging	Het

Other mutations in Tlr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Tlr7	APN	X	166,091,471 (GRCm39)	missense	possibly damaging	0.94
IGL01064:Tlr7	APN	X	166,091,207 (GRCm39)	missense	probably damaging	1.00
IGL02940:Tlr7	APN	X	166,090,830 (GRCm39)	missense	probably benign	0.02
IGL03064:Tlr7	APN	X	166,089,203 (GRCm39)	missense	possibly damaging	0.89
IGL03298:Tlr7	APN	X	166,089,703 (GRCm39)	missense	probably benign	0.45
rsq1	UTSW	X	166,091,282 (GRCm39)	missense	probably damaging	1.00
rsq2	UTSW	X	166,090,941 (GRCm39)	missense	probably damaging	1.00
rsq3	UTSW	X	166,090,941 (GRCm39)	missense	probably damaging	1.00
R1883:Tlr7	UTSW	X	166,089,468 (GRCm39)	missense	probably benign	0.20
R5929:Tlr7	UTSW	X	166,089,878 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCAAGGTCAAGAACTTCCAGCC -3'
(R):5'- CACAGGATCTGCCATCCAGCTTAC -3'

Sequencing Primer
(F):5'- TTAAACCATGTTGGGGGCAC -3'
(R):5'- AGCTTACATCTTCTGAGCCTTG -3'

Posted On

2014-03-14