Mutagenetix > Incidental Mutation

Incidental Mutation 'R8343:Stx8'

645033

Institutional Source

Beutler Lab

Gene Symbol

Stx8

Ensembl Gene

ENSMUSG00000020903

Gene Name

syntaxin 8

Synonyms

1110002H11Rik, 4930571E13Rik, 0610007H08Rik

MMRRC Submission

067866-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8343 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67857237-68097974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67911814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 177 (D177E)

Ref Sequence

ENSEMBL: ENSMUSP00000021285 (fasta)

Gene Model

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

AlphaFold

O88983

Predicted Effect

probably benign
Transcript: ENSMUST00000021285
AA Change: D177E

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021285
Gene: ENSMUSG00000020903
AA Change: D177E

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: 98.9%

Validation Efficiency

97% (64/66)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,767,361 (GRCm39)	W156R	probably damaging	Het
Acvr1	T	A	2: 58,364,286 (GRCm39)		probably null	Het
Adamts2	G	T	11: 50,494,315 (GRCm39)	V130L	probably damaging	Het
Adcy4	C	T	14: 56,012,697 (GRCm39)	V541I	probably benign	Het
Adgrl2	C	T	3: 148,552,542 (GRCm39)	V654I	probably damaging	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
Akap11	A	T	14: 78,749,929 (GRCm39)	S819R		Het
Alox5ap	T	C	5: 149,224,419 (GRCm39)	F121L	probably damaging	Het
Baz2b	A	T	2: 59,731,858 (GRCm39)	M2060K	probably damaging	Het
Bltp3b	T	C	10: 89,627,281 (GRCm39)	S449P	probably benign	Het
C030005K15Rik	T	C	10: 97,561,414 (GRCm39)	I106V	unknown	Het
Carmil2	T	A	8: 106,417,716 (GRCm39)	S604T	probably benign	Het
Ccdc121rt2	C	T	5: 112,598,653 (GRCm39)	T400I	probably benign	Het
Cdhr1	T	C	14: 36,813,935 (GRCm39)	T164A	probably benign	Het
Dhx30	T	C	9: 109,914,569 (GRCm39)	E976G	possibly damaging	Het
Dnah17	C	T	11: 118,005,021 (GRCm39)	G788R	probably benign	Het
Dus2	T	C	8: 106,722,645 (GRCm39)		probably benign	Het
Etv6	T	C	6: 134,225,717 (GRCm39)	V316A	possibly damaging	Het
Fabp9	T	G	3: 10,259,085 (GRCm39)	K107T	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gapdh	A	G	6: 125,140,226 (GRCm39)	V92A	probably benign	Het
Gfy	A	G	7: 44,826,019 (GRCm39)	L453P	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Gtpbp8	T	C	16: 44,566,676 (GRCm39)	R9G	probably benign	Het
Hipk4	G	T	7: 27,223,033 (GRCm39)	R31L	probably damaging	Het
Htt	T	A	5: 35,063,068 (GRCm39)	M2900K	probably damaging	Het
Ighv1-20	T	C	12: 114,687,810 (GRCm39)	I6V	probably benign	Het
Il17d	C	T	14: 57,779,937 (GRCm39)	T153I	probably damaging	Het
Izumo3	T	A	4: 92,034,581 (GRCm39)	N117I	probably damaging	Het
Kcnh7	T	C	2: 62,680,879 (GRCm39)	D236G	probably benign	Het
Kmt2d	T	C	15: 98,750,478 (GRCm39)	D2405G	unknown	Het
Map4k2	T	C	19: 6,396,596 (GRCm39)	W533R	probably damaging	Het
Matn1	C	A	4: 130,673,300 (GRCm39)	Y89*	probably null	Het
Mettl18	T	A	1: 163,824,509 (GRCm39)	Y277N	probably damaging	Het
Muc5b	G	A	7: 141,417,898 (GRCm39)	G3615S	probably benign	Het
Mycbp2	A	C	14: 103,398,111 (GRCm39)		probably null	Het
Myh4	T	A	11: 67,143,390 (GRCm39)	S1041T	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naaladl1	T	C	19: 6,159,703 (GRCm39)	V378A	possibly damaging	Het
Nars1	T	C	18: 64,637,458 (GRCm39)	D374G	probably benign	Het
Neb	C	T	2: 52,198,283 (GRCm39)		probably null	Het
Neurl1b	A	G	17: 26,650,965 (GRCm39)	Y79C	probably damaging	Het
Nynrin	A	G	14: 56,101,248 (GRCm39)	T306A	probably benign	Het
Ola1	G	T	2: 73,029,745 (GRCm39)	R125S	probably damaging	Het
Or12d15	T	A	17: 37,694,122 (GRCm39)	F221L	probably benign	Het
Or51a43	A	T	7: 103,717,383 (GRCm39)	V285D	probably damaging	Het
Pak1ip1	C	A	13: 41,158,214 (GRCm39)	T29K	probably benign	Het
Podnl1	T	A	8: 84,857,402 (GRCm39)	L337H		Het
Rictor	T	G	15: 6,807,800 (GRCm39)		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sel1l2	T	C	2: 140,072,753 (GRCm39)	I627M	probably benign	Het
Sh3rf2	T	C	18: 42,244,493 (GRCm39)	S352P	probably damaging	Het
Slc6a6	G	A	6: 91,703,224 (GRCm39)	W199*	probably null	Het
Smc2	T	A	4: 52,450,965 (GRCm39)	V261E	probably benign	Het
Sorcs3	G	A	19: 48,692,808 (GRCm39)		probably null	Het
Spdye4a	T	A	5: 143,211,562 (GRCm39)	M1L	probably benign	Het
Stag1	T	C	9: 100,639,819 (GRCm39)	I125T	possibly damaging	Het
Sun2	T	C	15: 79,623,125 (GRCm39)	Y71C	probably damaging	Het
Tmed9	T	C	13: 55,742,617 (GRCm39)	F129L	probably benign	Het
Tmem216	T	A	19: 10,529,336 (GRCm39)	T17S	probably benign	Het
Tmpo	A	T	10: 90,997,974 (GRCm39)	N604K	probably benign	Het
Tmprss11f	T	A	5: 86,681,666 (GRCm39)	I196F	probably benign	Het
Tnks	A	G	8: 35,301,738 (GRCm39)	F1244L	probably benign	Het
Tspan2	T	C	3: 102,676,226 (GRCm39)	C212R	probably damaging	Het
Tspan4	A	G	7: 141,071,718 (GRCm39)	D155G	probably damaging	Het
Ttc6	T	C	12: 57,707,282 (GRCm39)	F730L	possibly damaging	Het
Txnrd2	G	A	16: 18,245,291 (GRCm39)	A33T	unknown	Het
Wnk1	C	T	6: 119,940,454 (GRCm39)	R761H	probably damaging	Het
Zfp217	T	C	2: 169,962,024 (GRCm39)	D101G	probably damaging	Het
Zfp281	T	C	1: 136,555,620 (GRCm39)	F866S	probably 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
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
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

2020-09-02