Mutagenetix > Incidental Mutation

Incidental Mutation 'R7722:Stx8'

595291

Institutional Source

Beutler Lab

Gene Symbol

Stx8

Ensembl Gene

ENSMUSG00000020903

Gene Name

syntaxin 8

Synonyms

1110002H11Rik, 4930571E13Rik, 0610007H08Rik

MMRRC Submission

045778-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7722 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67857237-68097974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68094544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 219 (V219A)

Ref Sequence

ENSEMBL: ENSMUSP00000021285 (fasta)

Gene Model

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

AlphaFold

O88983

Predicted Effect

probably damaging
Transcript: ENSMUST00000021285
AA Change: V219A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021285
Gene: ENSMUSG00000020903
AA Change: V219A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,029,231 (GRCm39)	E151G	probably benign	Het
Alpk2	A	T	18: 65,483,228 (GRCm39)	L260H	probably damaging	Het
Amh	T	C	10: 80,642,458 (GRCm39)	V247A	probably benign	Het
Ank2	T	A	3: 126,822,951 (GRCm39)	I431L	probably benign	Het
Ano7	G	A	1: 93,318,145 (GRCm39)	A286T	probably damaging	Het
Atp8a1	T	A	5: 67,780,041 (GRCm39)		probably null	Het
Brd1	A	T	15: 88,613,762 (GRCm39)	S378T	probably damaging	Het
Clrn1	T	A	3: 58,753,755 (GRCm39)	N202I	possibly damaging	Het
Cspp1	T	C	1: 10,145,126 (GRCm39)	V308A	probably benign	Het
Cyp2a5	T	C	7: 26,536,543 (GRCm39)	L174P	probably benign	Het
Ehbp1	G	A	11: 22,039,572 (GRCm39)	H843Y	probably null	Het
Fancm	T	A	12: 65,153,235 (GRCm39)	D1230E	probably damaging	Het
Fbxl17	A	T	17: 63,663,823 (GRCm39)	N555K	probably damaging	Het
Fmnl2	A	C	2: 52,944,479 (GRCm39)	S153R		Het
Fras1	G	A	5: 96,917,413 (GRCm39)	V3478M	probably damaging	Het
Gnptab	T	C	10: 88,215,390 (GRCm39)	F37S	probably damaging	Het
Gpr183	T	G	14: 122,192,270 (GRCm39)	I84L	probably damaging	Het
Hcn1	A	G	13: 118,039,314 (GRCm39)	H410R	unknown	Het
Hmcn1	A	G	1: 150,543,631 (GRCm39)	V2848A	probably damaging	Het
Hmcn2	A	T	2: 31,272,512 (GRCm39)	R1331*	probably null	Het
Hsd17b4	A	C	18: 50,279,591 (GRCm39)	N190T	probably damaging	Het
Itprid2	T	C	2: 79,492,689 (GRCm39)	S1079P	probably damaging	Het
Kif14	A	G	1: 136,396,033 (GRCm39)	D113G	probably benign	Het
Kmt2e	T	G	5: 23,702,016 (GRCm39)	D881E	probably benign	Het
Lamb1	T	A	12: 31,373,570 (GRCm39)	L1481Q	probably damaging	Het
Limk2	T	C	11: 3,306,092 (GRCm39)		probably null	Het
Luc7l2	T	A	6: 38,580,243 (GRCm39)	S281T	unknown	Het
Map3k5	A	G	10: 20,007,891 (GRCm39)	D1240G	probably benign	Het
Med13l	C	A	5: 118,885,472 (GRCm39)	T1475K	probably benign	Het
Med17	G	T	9: 15,182,987 (GRCm39)	Q353K	probably benign	Het
Mlh3	A	G	12: 85,314,266 (GRCm39)	V640A	probably benign	Het
Mms22l	T	A	4: 24,517,201 (GRCm39)	Y361N	probably damaging	Het
Mtmr2	T	A	9: 13,716,104 (GRCm39)	N532K	probably benign	Het
Mtss1	G	A	15: 58,926,935 (GRCm39)	T47I	probably damaging	Het
Mturn	T	C	6: 54,676,545 (GRCm39)		probably null	Het
Muc20	A	C	16: 32,617,756 (GRCm39)	S3A	probably benign	Het
Nde1	T	C	16: 14,008,128 (GRCm39)	Y164H	unknown	Het
Neurl1b	A	G	17: 26,660,132 (GRCm39)	T451A	probably benign	Het
Or52u1	C	A	7: 104,237,505 (GRCm39)	Q165K	possibly damaging	Het
Or8g18	A	T	9: 39,148,885 (GRCm39)	Y278*	probably null	Het
Pgap3	G	A	11: 98,281,610 (GRCm39)	A196V	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scart1	C	A	7: 139,802,299 (GRCm39)	C209*	probably null	Het
Sdcbp	T	A	4: 6,385,063 (GRCm39)	V94E	possibly damaging	Het
Sgo2a	T	G	1: 58,055,696 (GRCm39)	F627V	probably benign	Het
Skor2	A	C	18: 76,950,339 (GRCm39)	N889T	probably benign	Het
Slc35f4	A	T	14: 49,543,731 (GRCm39)	N288K	probably benign	Het
Slc9b2	T	A	3: 135,035,596 (GRCm39)	V355E	probably null	Het
Smarcc2	A	G	10: 128,317,597 (GRCm39)	E566G	possibly damaging	Het
Sorcs2	T	C	5: 36,200,871 (GRCm39)	E559G	probably damaging	Het
Sphkap	T	C	1: 83,256,642 (GRCm39)	D369G	probably benign	Het
Stc1	T	A	14: 69,269,729 (GRCm39)	I103N	possibly damaging	Het
Tg	C	T	15: 66,636,158 (GRCm39)	R582C	possibly damaging	Het
Tshz2	T	A	2: 169,727,192 (GRCm39)	L596Q	probably benign	Het
Tti1	A	G	2: 157,849,527 (GRCm39)	Y571H	probably benign	Het
Zbtb40	A	G	4: 136,718,829 (GRCm39)	I956T	probably damaging	Het
Zfp990	A	C	4: 145,263,532 (GRCm39)	N177H	possibly damaging	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
R5485:Stx8	UTSW	11	67,911,792 (GRCm39)	missense	probably benign	0.00
R7673:Stx8	UTSW	11	67,875,465 (GRCm39)	missense	probably benign	0.29
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'- AGTATTGGCACAGCTCTCAAGG -3'
(R):5'- GCTCTGTTCTCTACCCAAACAAG -3'

Sequencing Primer
(F):5'- CAGCTCTCAAGGTGGCAATG -3'
(R):5'- TGTTCTCTACCCAAACAAGGTACAC -3'

Posted On

2019-11-12