Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Stx7'

485029

Institutional Source

Beutler Lab

Gene Symbol

Stx7

Ensembl Gene

ENSMUSG00000019998

Gene Name

syntaxin 7

Synonyms

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6114 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

24149302-24190222 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 24184985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020174] [ENSMUST00000020174] [ENSMUST00000220041] [ENSMUST00000220041]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000020174

SMART Domains

Protein: ENSMUSP00000020174
Gene: ENSMUSG00000019998

Domain	Start	End	E-Value	Type
SynN	3	116	2.66e-31	SMART
t_SNARE	160	227	2.39e-17	SMART
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000020174

SMART Domains

Protein: ENSMUSP00000020174
Gene: ENSMUSG00000019998

Domain	Start	End	E-Value	Type
SynN	3	116	2.66e-31	SMART
t_SNARE	160	227	2.39e-17	SMART
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000220041

Predicted Effect

probably null
Transcript: ENSMUST00000220041

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

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 syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the ordered fusion of endosomes and lysosomes with the phagosome. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803 (GRCm38)	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297 (GRCm38)	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159 (GRCm38)	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051 (GRCm38)	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744 (GRCm38)	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213 (GRCm38)	T11S	unknown	Het
Blm	T	C	7: 80,513,487 (GRCm38)	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971 (GRCm38)	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140 (GRCm38)	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201 (GRCm38)	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330 (GRCm38)	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953 (GRCm38)	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710 (GRCm38)	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753 (GRCm38)	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801 (GRCm38)	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306 (GRCm38)	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374 (GRCm38)	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876 (GRCm38)	K294*	probably null	Het
Hoxd9	A	G	2: 74,699,365 (GRCm38)	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387 (GRCm38)	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759 (GRCm38)	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035 (GRCm38)	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692 (GRCm38)	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676 (GRCm38)	N120S	probably damaging	Het
Lrrc37	T	A	11: 103,617,791 (GRCm38)		probably benign	Het
Lrrk2	A	G	15: 91,747,826 (GRCm38)	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360 (GRCm38)	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836 (GRCm38)	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290 (GRCm38)	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816 (GRCm38)	N273Y	possibly damaging	Het
Nrdc	A	T	4: 109,044,585 (GRCm38)	K617M	probably damaging	Het
Or10a3b	A	T	7: 108,845,386 (GRCm38)	M208K	possibly damaging	Het
Or1l8	A	T	2: 36,927,689 (GRCm38)	C142S	possibly damaging	Het
Or6c202	T	A	10: 129,160,333 (GRCm38)	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872 (GRCm38)	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947 (GRCm38)	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112 (GRCm38)		probably null	Het
Pitx2	C	G	3: 129,204,413 (GRCm38)		probably null	Het
Reck	T	A	4: 43,922,895 (GRCm38)	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323 (GRCm38)	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792 (GRCm38)		probably null	Het
Scn8a	A	G	15: 101,040,596 (GRCm38)	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852 (GRCm38)	Y346*	probably null	Het
Slc24a5	A	G	2: 125,083,092 (GRCm38)	T218A	probably benign	Het
Slc38a10	G	A	11: 120,129,312 (GRCm38)	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604 (GRCm38)	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262 (GRCm38)		probably benign	Het
Sox8	T	C	17: 25,567,520 (GRCm38)	D403G	probably damaging	Het
Svil	T	C	18: 5,108,639 (GRCm38)	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245 (GRCm38)	R1403G	probably benign	Het
Tasor2	G	A	13: 3,590,081 (GRCm38)	T352M	probably damaging	Het
Tcf25	A	T	8: 123,384,375 (GRCm38)	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640 (GRCm38)	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868 (GRCm38)	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669 (GRCm38)	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364 (GRCm38)	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829 (GRCm38)	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325 (GRCm38)	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376 (GRCm38)	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605 (GRCm38)	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691 (GRCm38)	I988F	probably damaging	Het
Zbtb47	T	A	9: 121,765,595 (GRCm38)	F540Y	probably damaging	Het
Zfp536	A	T	7: 37,479,736 (GRCm38)	I84N	probably damaging	Het

Other mutations in Stx7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02959:Stx7	APN	10	24,155,349 (GRCm38)	missense	probably benign	0.05
IGL03133:Stx7	APN	10	24,185,038 (GRCm38)	missense	probably damaging	0.99
madison	UTSW	10	24,182,761 (GRCm38)	splice site	probably null
stones	UTSW	10	24,184,985 (GRCm38)	critical splice acceptor site	probably null
switch	UTSW	10	24,182,826 (GRCm38)	nonsense	probably null
teufel	UTSW	10	24,181,556 (GRCm38)	missense	possibly damaging	0.86
R0201:Stx7	UTSW	10	24,185,079 (GRCm38)	splice site	probably benign
R0413:Stx7	UTSW	10	24,181,594 (GRCm38)	missense	probably damaging	0.99
R1624:Stx7	UTSW	10	24,185,005 (GRCm38)	missense	probably damaging	1.00
R3980:Stx7	UTSW	10	24,185,049 (GRCm38)	missense	probably damaging	0.99
R5874:Stx7	UTSW	10	24,182,761 (GRCm38)	splice site	probably null
R6493:Stx7	UTSW	10	24,185,071 (GRCm38)	critical splice donor site	probably null
R8320:Stx7	UTSW	10	24,179,148 (GRCm38)	missense	probably damaging	0.98
R8560:Stx7	UTSW	10	24,181,556 (GRCm38)	missense	possibly damaging	0.86
R9098:Stx7	UTSW	10	24,182,826 (GRCm38)	nonsense	probably null
R9792:Stx7	UTSW	10	24,181,577 (GRCm38)	missense	probably damaging	1.00
R9795:Stx7	UTSW	10	24,181,577 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCTGCAAAGTGACAGGAC -3'
(R):5'- TGGCTTGTTTCTGACCACTG -3'

Sequencing Primer
(F):5'- CTGCAAAGTGACAGGACTGTGTTG -3'
(R):5'- GTTTCTGACCACTGCCACTACTAAC -3'

Posted On

2017-08-16