Mutagenetix > Incidental Mutation

Incidental Mutation 'R6843:Stx1b'

534626

Institutional Source

Beutler Lab

Gene Symbol

Stx1b

Ensembl Gene

ENSMUSG00000030806

Gene Name

syntaxin 1B

Synonyms

Stx1b2

MMRRC Submission

044949-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

R6843 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127403072-127423703 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 127414151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 72 (Q72*)

Ref Sequence

ENSEMBL: ENSMUSP00000101874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106267] [ENSMUST00000156135]

AlphaFold

P61264

Predicted Effect

probably null
Transcript: ENSMUST00000106267
AA Change: Q72*

SMART Domains

Protein: ENSMUSP00000101874
Gene: ENSMUSG00000030806
AA Change: Q72*

Domain	Start	End	E-Value	Type
SynN	24	145	1.99e-44	SMART
t_SNARE	186	253	4.32e-24	SMART
transmembrane domain	265	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156135

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

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 belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a reporter allele that encodes an 'open' syntaxin-1B protein conformation are viable but display severe ataxia, reduced chromaffin vesicle docking, accelerated synaptic vesicle fusion, and lethal epileptic seizures after 2 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,360 (GRCm39)	Q78L	probably benign	Het
Akr1c21	A	G	13: 4,625,213 (GRCm39)	H48R	probably damaging	Het
Anks1b	T	A	10: 90,784,460 (GRCm39)	S1143T	probably damaging	Het
Apip	T	G	2: 102,922,834 (GRCm39)	F217L	probably benign	Het
Ash1l	T	A	3: 88,892,695 (GRCm39)	Y1525N	probably damaging	Het
Bcl2l13	G	A	6: 120,825,578 (GRCm39)		probably null	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Clk4	T	G	11: 51,167,076 (GRCm39)		probably null	Het
Cnr2	C	T	4: 135,644,900 (GRCm39)	P326L	probably benign	Het
Cryaa	A	G	17: 31,897,147 (GRCm39)	D58G	possibly damaging	Het
Crybg3	G	A	16: 59,380,159 (GRCm39)	T365M	probably benign	Het
Csmd2	A	G	4: 128,357,587 (GRCm39)	N1683D	probably benign	Het
Dbx2	T	G	15: 95,552,340 (GRCm39)	I102L	possibly damaging	Het
Dll4	A	T	2: 119,156,475 (GRCm39)		probably benign	Het
Epb42	T	A	2: 120,858,166 (GRCm39)	Y264F	possibly damaging	Het
Exoc3l	T	A	8: 106,016,729 (GRCm39)	H695L	probably benign	Het
Fhip1a	G	A	3: 85,580,352 (GRCm39)	P618S	probably damaging	Het
Ghsr	A	C	3: 27,426,676 (GRCm39)	D244A	probably benign	Het
Gm9195	A	G	14: 72,678,651 (GRCm39)	Y2268H	possibly damaging	Het
Hdac1	A	G	4: 129,436,383 (GRCm39)	Y14H	probably damaging	Het
Hdac3	A	T	18: 38,075,007 (GRCm39)	Y282N	probably benign	Het
Heg1	T	A	16: 33,539,896 (GRCm39)	N285K	probably benign	Het
Igkv4-90	A	G	6: 68,784,670 (GRCm39)	F8S	possibly damaging	Het
Map2k1	A	T	9: 64,094,973 (GRCm39)	D336E	probably damaging	Het
Map4k2	A	T	19: 6,403,477 (GRCm39)	I796F	probably damaging	Het
Mapk13	T	A	17: 28,994,427 (GRCm39)		probably null	Het
Mprip	A	G	11: 59,650,554 (GRCm39)	I1419M	possibly damaging	Het
Nrap	T	C	19: 56,368,651 (GRCm39)	E255G	probably damaging	Het
Oprl1	A	G	2: 181,357,547 (GRCm39)	E11G	probably damaging	Het
Or1i2	T	C	10: 78,447,891 (GRCm39)	N195D	probably damaging	Het
Or4f14	T	C	2: 111,743,260 (GRCm39)	N5S	probably damaging	Het
Or52b3	A	G	7: 102,203,928 (GRCm39)	I146V	probably benign	Het
Or5b99	G	T	19: 12,976,362 (GRCm39)	C4F	probably benign	Het
Or6c209	A	G	10: 129,483,048 (GRCm39)	D17G	possibly damaging	Het
Palmd	T	A	3: 116,717,864 (GRCm39)	D211V	probably damaging	Het
Pcdhga11	A	G	18: 37,889,378 (GRCm39)	N129D	probably damaging	Het
Plekha6	T	A	1: 133,202,616 (GRCm39)	M359K	probably damaging	Het
Plekha7	G	T	7: 115,742,555 (GRCm39)	H756Q	probably benign	Het
Ppfibp2	C	T	7: 107,326,938 (GRCm39)	P441S	probably benign	Het
Ptprk	T	C	10: 28,467,978 (GRCm39)	I1373T	possibly damaging	Het
Serpinb9g	G	T	13: 33,676,900 (GRCm39)	L227F	probably damaging	Het
Snapc4	C	A	2: 26,263,611 (GRCm39)	A11S	probably benign	Het
Sqor	T	C	2: 122,626,900 (GRCm39)	V7A	probably benign	Het
Sqor	G	T	2: 122,651,215 (GRCm39)	G437V	probably damaging	Het
Srrm3	T	C	5: 135,881,135 (GRCm39)	V145A	probably benign	Het
Syt7	A	G	19: 10,399,135 (GRCm39)	D77G	probably damaging	Het
Tvp23a	G	A	16: 10,264,884 (GRCm39)	A9V	probably benign	Het
Vmn1r66	T	A	7: 10,008,692 (GRCm39)	I114F	probably damaging	Het
Vmn2r80	C	A	10: 79,005,502 (GRCm39)	Q380K	probably benign	Het
Xdh	C	T	17: 74,230,125 (GRCm39)	E269K	probably damaging	Het
Zfp932	T	C	5: 110,156,581 (GRCm39)	M92T	probably benign	Het

Other mutations in Stx1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Stx1b	APN	7	127,409,870 (GRCm39)	missense	probably damaging	1.00
IGL02730:Stx1b	APN	7	127,414,549 (GRCm39)	missense	probably benign	0.37
IGL03394:Stx1b	APN	7	127,407,056 (GRCm39)	missense	probably damaging	1.00
R0680:Stx1b	UTSW	7	127,406,895 (GRCm39)	missense	possibly damaging	0.80
R1141:Stx1b	UTSW	7	127,410,098 (GRCm39)	splice site	probably null
R1511:Stx1b	UTSW	7	127,414,144 (GRCm39)	missense	probably damaging	0.99
R2024:Stx1b	UTSW	7	127,414,575 (GRCm39)	missense	probably benign	0.00
R2116:Stx1b	UTSW	7	127,410,077 (GRCm39)	missense	probably damaging	1.00
R4964:Stx1b	UTSW	7	127,407,093 (GRCm39)	missense	probably damaging	1.00
R4966:Stx1b	UTSW	7	127,407,093 (GRCm39)	missense	probably damaging	1.00
R5385:Stx1b	UTSW	7	127,414,575 (GRCm39)	missense	probably benign	0.00
R5386:Stx1b	UTSW	7	127,414,575 (GRCm39)	missense	probably benign	0.00
R5777:Stx1b	UTSW	7	127,410,090 (GRCm39)	nonsense	probably null
R6092:Stx1b	UTSW	7	127,407,035 (GRCm39)	missense	possibly damaging	0.94
R6184:Stx1b	UTSW	7	127,407,077 (GRCm39)	missense	possibly damaging	0.79
R6688:Stx1b	UTSW	7	127,407,068 (GRCm39)	missense	probably damaging	1.00
R7493:Stx1b	UTSW	7	127,406,531 (GRCm39)	missense	possibly damaging	0.88
R7919:Stx1b	UTSW	7	127,406,507 (GRCm39)	missense	probably benign	0.19
R8401:Stx1b	UTSW	7	127,406,945 (GRCm39)	splice site	probably benign
R9164:Stx1b	UTSW	7	127,414,159 (GRCm39)	missense	probably benign
R9608:Stx1b	UTSW	7	127,406,551 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAACACTGCCTGGCTCATTTC -3'
(R):5'- GCTGCATCGAGAAACTGTCTG -3'

Sequencing Primer
(F):5'- CCTGTCAAGTGTTTCCAAAGGACG -3'
(R):5'- CATCGAGAAACTGTCTGAGGATGTG -3'

Posted On

2018-09-12