Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03133:Stx7'

410415

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stx7

Ensembl Gene

ENSMUSG00000019998

Gene Name

syntaxin 7

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

24149302-24190222 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24185038 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 221 (N221I)

Ref Sequence

ENSEMBL: ENSMUSP00000151638 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020174
AA Change: N221I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020174
Gene: ENSMUSG00000019998
AA Change: N221I

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 damaging
Transcript: ENSMUST00000220041
AA Change: N221I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

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 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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,896		probably benign	Het
Ano5	C	T	7: 51,576,512	R505*	probably null	Het
Asphd1	A	G	7: 126,948,280	C284R	possibly damaging	Het
Cep192	T	A	18: 67,810,105	W158R	probably benign	Het
Ces2h	T	A	8: 105,016,779	D188E	probably damaging	Het
Dab1	G	A	4: 104,727,580	V306I	probably benign	Het
Dcc	A	G	18: 71,262,955		probably benign	Het
Dennd6b	T	A	15: 89,188,523		probably null	Het
Dmwd	T	A	7: 19,076,637	V123D	probably damaging	Het
Eno1	A	G	4: 150,245,344		probably benign	Het
Fat2	G	A	11: 55,286,043	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,389,392	S274P	probably benign	Het
Gmpr	T	C	13: 45,517,018	V72A	probably benign	Het
Kank2	T	C	9: 21,795,641	E27G	probably null	Het
Mtor	G	T	4: 148,484,319	A1099S	probably benign	Het
Ofcc1	T	C	13: 40,072,768	I763V	probably benign	Het
Olfr1023	G	T	2: 85,887,134	E111D	probably damaging	Het
Olfr1065	A	G	2: 86,445,658	I108T	probably damaging	Het
Olfr487	G	T	7: 108,212,387	S47R	possibly damaging	Het
Olfr870	T	A	9: 20,170,713	N286I	probably damaging	Het
Piwil1	C	A	5: 128,742,029	H201N	probably benign	Het
Slc26a7	C	T	4: 14,532,576	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,034,985	Y114H	probably benign	Het
Tbc1d31	A	T	15: 57,942,459		probably benign	Het
Ubxn7	T	G	16: 32,381,781	L393R	probably damaging	Het
Vit	A	T	17: 78,566,071	M59L	probably benign	Het
Vmn1r5	T	A	6: 56,985,615	C92S	probably benign	Het

Other mutations in Stx7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02959:Stx7	APN	10	24155349	missense	probably benign	0.05
madison	UTSW	10	24182761	splice site	probably null
stones	UTSW	10	24184985	critical splice acceptor site	probably null
R0201:Stx7	UTSW	10	24185079	splice site	probably benign
R0413:Stx7	UTSW	10	24181594	missense	probably damaging	0.99
R1624:Stx7	UTSW	10	24185005	missense	probably damaging	1.00
R3980:Stx7	UTSW	10	24185049	missense	probably damaging	0.99
R5874:Stx7	UTSW	10	24182761	splice site	probably null
R6114:Stx7	UTSW	10	24184985	critical splice acceptor site	probably null
R6493:Stx7	UTSW	10	24185071	critical splice donor site	probably null
R8320:Stx7	UTSW	10	24179148	missense	probably damaging	0.98

Posted On

2016-08-02