Mutagenetix > Incidental Mutation

Incidental Mutation 'R5485:Stx8'

432528

Institutional Source

Beutler Lab

Gene Symbol

Stx8

Ensembl Gene

ENSMUSG00000020903

Gene Name

syntaxin 8

Synonyms

1110002H11Rik, 4930571E13Rik, 0610007H08Rik

MMRRC Submission

043046-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67857237-68097974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67911792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 170 (Q170R)

Ref Sequence

ENSEMBL: ENSMUSP00000021285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021285]

AlphaFold

O88983

Predicted Effect

probably benign
Transcript: ENSMUST00000021285
AA Change: Q170R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021285
Gene: ENSMUSG00000020903
AA Change: Q170R

Domain	Start	End	E-Value	Type
low complexity region	47	63	N/A	INTRINSIC
t_SNARE	140	207	2.77e-13	SMART
transmembrane domain	211	233	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129992

Meta Mutation Damage Score

0.0663

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.6%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in platelet dense granule secretion, aggregation, and thrombus stability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,378 (GRCm39)	V85D	probably benign	Het
Abcb8	A	G	5: 24,605,159 (GRCm39)	N115S	probably benign	Het
Appl1	C	A	14: 26,684,823 (GRCm39)	L75F	probably damaging	Het
Atp13a5	A	G	16: 29,100,760 (GRCm39)		probably null	Het
Atp2c2	T	A	8: 120,479,801 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,864,979 (GRCm39)	I94F	probably damaging	Het
Clasp1	A	G	1: 118,395,643 (GRCm39)	I194V	possibly damaging	Het
Crebbp	A	C	16: 3,932,777 (GRCm39)	D1000E	probably benign	Het
Ctdnep1	C	T	11: 69,872,316 (GRCm39)	R3W	possibly damaging	Het
Dgkb	T	C	12: 38,177,363 (GRCm39)	V230A	probably damaging	Het
Duoxa2	T	C	2: 122,129,633 (GRCm39)	F38L	possibly damaging	Het
Ecd	T	C	14: 20,388,273 (GRCm39)	S172G	probably benign	Het
Endog	G	T	2: 30,061,663 (GRCm39)		probably benign	Het
Eqtn	G	A	4: 94,813,193 (GRCm39)	P131L	possibly damaging	Het
Gabbr1	T	A	17: 37,367,767 (GRCm39)	S290T	possibly damaging	Het
Glt8d2	T	A	10: 82,487,282 (GRCm39)	R319S	possibly damaging	Het
Gm16686	A	G	4: 88,673,641 (GRCm39)		probably benign	Het
Gm5709	A	T	3: 59,542,983 (GRCm39)		noncoding transcript	Het
Gm7381	T	C	8: 3,892,161 (GRCm39)		noncoding transcript	Het
Gorab	T	G	1: 163,213,871 (GRCm39)	D353A	possibly damaging	Het
Gstm1	A	G	3: 107,924,720 (GRCm39)	L20P	probably damaging	Het
Hexim2	A	G	11: 103,029,884 (GRCm39)	D312G	probably benign	Het
Hfm1	A	G	5: 106,995,528 (GRCm39)		probably null	Het
Mbd4	C	A	6: 115,827,679 (GRCm39)	A66S	probably benign	Het
Mmp27	T	A	9: 7,573,363 (GRCm39)	W152R	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mrps18b	A	T	17: 36,225,236 (GRCm39)	V102D	probably damaging	Het
Or10g3b	A	T	14: 52,586,776 (GRCm39)	C242*	probably null	Het
Peg10	T	A	6: 4,755,565 (GRCm39)	M47K	probably benign	Het
Plxnc1	T	G	10: 94,758,604 (GRCm39)	Q364P	probably benign	Het
Psd	A	T	19: 46,304,528 (GRCm39)		probably null	Het
Rims1	T	G	1: 22,522,289 (GRCm39)	I470L	possibly damaging	Het
Sbsn	T	C	7: 30,452,542 (GRCm39)	V519A	possibly damaging	Het
Senp1	A	G	15: 97,964,377 (GRCm39)	V279A	probably benign	Het
Sfxn5	T	A	6: 85,309,582 (GRCm39)		probably benign	Het
Slc6a13	T	A	6: 121,313,032 (GRCm39)	M483K	probably damaging	Het
Slc6a21	G	A	7: 44,931,966 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,053,481 (GRCm39)	Y140C	probably damaging	Het
Spata32	A	G	11: 103,100,122 (GRCm39)	S128P	probably damaging	Het
Spty2d1	G	T	7: 46,647,633 (GRCm39)	T432K	possibly damaging	Het
Sytl3	G	A	17: 6,982,879 (GRCm39)	V112I	probably benign	Het
Tdrkh	A	G	3: 94,336,019 (GRCm39)	I420V	probably benign	Het
Tmem117	T	C	15: 94,992,711 (GRCm39)	V457A	probably benign	Het
Tpk1	T	C	6: 43,642,746 (GRCm39)		probably benign	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Tsen54	A	G	11: 115,706,048 (GRCm39)	E90G	probably benign	Het
Ugt1a2	A	T	1: 88,128,968 (GRCm39)	M204L	probably damaging	Het
Vmn2r17	A	T	5: 109,567,972 (GRCm39)	I32F	probably benign	Het
Xkr6	T	C	14: 64,056,833 (GRCm39)	V248A	unknown	Het
Zfhx4	C	A	3: 5,308,067 (GRCm39)	S431Y	probably damaging	Het
Zfp318	T	A	17: 46,723,180 (GRCm39)	S1728T	possibly damaging	Het
Zfp563	T	C	17: 33,308,540 (GRCm39)		probably benign	Het

Other mutations in Stx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02679:Stx8	APN	11	67,860,598 (GRCm39)	missense	probably damaging	1.00
IGL02860:Stx8	APN	11	67,875,391 (GRCm39)	missense	probably damaging	1.00
IGL03084:Stx8	APN	11	67,911,782 (GRCm39)	nonsense	probably null
R0574:Stx8	UTSW	11	67,864,078 (GRCm39)	missense	probably damaging	0.99
R0599:Stx8	UTSW	11	68,000,188 (GRCm39)	missense	probably null	0.26
R1696:Stx8	UTSW	11	67,902,248 (GRCm39)	missense	probably damaging	1.00
R1816:Stx8	UTSW	11	67,902,152 (GRCm39)	missense	possibly damaging	0.95
R1928:Stx8	UTSW	11	68,000,106 (GRCm39)	missense	probably damaging	0.98
R2352:Stx8	UTSW	11	67,864,077 (GRCm39)	missense	probably benign	0.02
R4822:Stx8	UTSW	11	67,864,099 (GRCm39)	missense	possibly damaging	0.90
R7673:Stx8	UTSW	11	67,875,465 (GRCm39)	missense	probably benign	0.29
R7722:Stx8	UTSW	11	68,094,544 (GRCm39)	missense	probably damaging	1.00
R7832:Stx8	UTSW	11	68,000,106 (GRCm39)	missense	probably damaging	1.00
R7852:Stx8	UTSW	11	67,860,611 (GRCm39)	missense	probably damaging	0.99
R8343:Stx8	UTSW	11	67,911,814 (GRCm39)	missense	probably benign	0.14
R9048:Stx8	UTSW	11	67,902,211 (GRCm39)	missense	probably damaging	1.00
R9171:Stx8	UTSW	11	67,875,471 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- GTCAGTTGCCTGGAGAGATC -3'
(R):5'- ATAGGGGACTTTTGGGATAGCAATG -3'

Sequencing Primer
(F):5'- GAGAGATCTCCCTCTGCATGTG -3'
(R):5'- ACTTTTGGGATAGCAATGGAAATG -3'

Posted On

2016-10-05