Mutagenetix > Incidental Mutation

Incidental Mutation 'R1472:Stxbp1'

164961

Institutional Source

Beutler Lab

Gene Symbol

Stxbp1

Ensembl Gene

ENSMUSG00000026797

Gene Name

syntaxin binding protein 1

Synonyms

Rb-sec1, Munc18-1, Munc-18a, Sxtbp1, Unc18h, N-sec1, nsec1

MMRRC Submission

039525-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R1472 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32787602-32847245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32794636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 594 (S594T)

Ref Sequence

ENSEMBL: ENSMUSP00000089051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050000] [ENSMUST00000077458]

AlphaFold

O08599

Predicted Effect

probably benign
Transcript: ENSMUST00000050000

SMART Domains

Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797

Domain	Start	End	E-Value	Type
Pfam:Sec1	28	582	9.8e-152	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077458
AA Change: S594T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: S594T

Domain	Start	End	E-Value	Type
Pfam:Sec1	29	581	2.8e-110	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113222

SMART Domains

Protein: ENSMUSP00000108848
Gene: ENSMUSG00000026797

Domain	Start	End	E-Value	Type
Pfam:Sec1	1	419	1.7e-106	PFAM

Meta Mutation Damage Score

0.1574

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit total loss of neurotransmitter secretion from synaptic vesicles throughout development and massive neuron apoptosis after initial synaptogenesis, leading to widespread neurodegeneration and complete neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,067,552	T834M	possibly damaging	Het
Ak1	T	C	2: 32,630,301	L32P	probably damaging	Het
Ankrd24	A	G	10: 81,634,920	D61G	probably damaging	Het
Atp13a2	T	C	4: 140,993,802	S99P	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Bmp10	A	G	6: 87,433,797	I191V	probably benign	Het
C2cd6	A	T	1: 59,067,785	S294T	possibly damaging	Het
C4b	T	A	17: 34,743,769	K20*	probably null	Het
Caps2	C	T	10: 112,179,472	T139I	probably benign	Het
Cdc25a	T	C	9: 109,876,089	S34P	probably benign	Het
Cenpv	T	C	11: 62,536,295	I146V	probably benign	Het
Cep57	A	T	9: 13,821,554	F32I	probably benign	Het
Cep85	A	G	4: 134,167,400	W32R	probably damaging	Het
Cntrl	T	C	2: 35,169,317		probably null	Het
Cpd	A	G	11: 76,784,398	V1299A	probably damaging	Het
Cpne6	T	C	14: 55,514,635	V283A	probably benign	Het
Crot	A	G	5: 8,966,941	C584R	probably damaging	Het
Ctsc	A	C	7: 88,281,462	H83P	possibly damaging	Het
Dido1	T	C	2: 180,660,720	N1797S	probably benign	Het
Dlgap4	C	T	2: 156,760,901	Q148*	probably null	Het
Dnah3	T	C	7: 120,070,958	D688G	probably benign	Het
Dnmt1	T	C	9: 20,932,176	E138G	probably benign	Het
Edc4	T	A	8: 105,892,828	M1396K	probably damaging	Het
Haao	T	A	17: 83,838,838	Q69L	probably benign	Het
Hsd3b6	A	T	3: 98,807,939		probably null	Het
Itpr3	T	A	17: 27,114,225	I1937N	probably benign	Het
Kcnk15	C	A	2: 163,858,207	T103K	probably damaging	Het
Kifc3	A	G	8: 95,137,913		probably null	Het
Lama3	T	A	18: 12,482,045	F1342Y	probably benign	Het
Lilra6	A	T	7: 3,912,719	M98K	probably damaging	Het
Map3k21	T	C	8: 125,941,678	S668P	probably benign	Het
Mcpt8	T	C	14: 56,082,334	T220A	probably benign	Het
Mettl13	C	T	1: 162,537,167	V548I	possibly damaging	Het
Mfsd4b4	A	G	10: 39,891,864	M411T	probably benign	Het
Mrfap1	A	G	5: 36,796,473	S41P	possibly damaging	Het
Mroh2b	A	G	15: 4,948,655	I1302V	probably benign	Het
Mrpl45	C	T	11: 97,323,855	R123*	probably null	Het
Mstn	T	A	1: 53,061,998	I78K	probably damaging	Het
Mtdh	T	C	15: 34,114,045	S168P	possibly damaging	Het
Muc15	G	T	2: 110,731,560	V114F	probably damaging	Het
Muc6	T	C	7: 141,651,879	E112G	probably benign	Het
Myocd	G	T	11: 65,187,504	H360Q	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nav3	T	C	10: 109,727,941	E1627G	probably damaging	Het
Nlrp14	T	C	7: 107,182,703	L369P	probably benign	Het
Nlrp6	A	G	7: 140,923,495	T505A	probably damaging	Het
Npbwr1	T	C	1: 5,916,681	S205G	probably damaging	Het
Nsmaf	G	A	4: 6,423,448	R307*	probably null	Het
Olfr1505	T	C	19: 13,919,844	S275P	probably damaging	Het
Olfr187	A	T	16: 59,036,557	L60Q	probably damaging	Het
Parp9	T	G	16: 35,953,680	S341A	possibly damaging	Het
Pdss2	A	G	10: 43,413,537	N346S	probably benign	Het
Pikfyve	T	A	1: 65,224,201	F503Y	probably damaging	Het
Polr1e	G	T	4: 45,028,026	A290S	probably damaging	Het
Ppp1r21	A	T	17: 88,558,605	H305L	probably damaging	Het
Prss47	A	G	13: 65,049,289	L117P	probably damaging	Het
Psmb2	A	G	4: 126,687,032	Y73C	probably damaging	Het
Rcn2	C	T	9: 56,056,253	P222L	probably benign	Het
Rnf144b	T	C	13: 47,242,885	Y233H	probably damaging	Het
Rnf17	T	C	14: 56,427,979	L196P	probably damaging	Het
Sik2	A	G	9: 51,008,811	I22T	probably damaging	Het
Sis	A	G	3: 72,889,027	V1807A	probably benign	Het
Slc1a2	T	A	2: 102,737,909	I88N	probably damaging	Het
Slc22a22	A	G	15: 57,247,520	F437S	probably benign	Het
Slc39a13	A	T	2: 91,068,705	C20*	probably null	Het
Sos2	C	T	12: 69,585,316		probably null	Het
Sst	A	G	16: 23,890,698	V16A	probably benign	Het
Stab1	C	T	14: 31,141,586	G2073D	probably benign	Het
Sugct	A	T	13: 17,452,546	C241S	probably benign	Het
Svil	T	A	18: 5,048,950	C76S	probably benign	Het
Tcaf1	A	G	6: 42,686,448	V166A	possibly damaging	Het
Tmem131	A	T	1: 36,816,241	N801K	possibly damaging	Het
Tox3	T	C	8: 90,254,345	N277S	probably damaging	Het
Tril	G	T	6: 53,818,027	R737S	probably damaging	Het
Trpm2	C	A	10: 77,966,007	V75L	probably damaging	Het
Tshz1	A	C	18: 84,013,805	L826R	possibly damaging	Het
Ttn	C	T	2: 76,766,852	V19906I	probably damaging	Het
Wnt5a	C	T	14: 28,518,504	R184*	probably null	Het
Wnt5b	G	A	6: 119,433,481	R333C	probably damaging	Het
Zbtb6	T	C	2: 37,429,344	T191A	probably benign	Het
Zc3h4	A	G	7: 16,434,770	N935D	unknown	Het
Zc3h7a	C	T	16: 11,161,026	R95H	probably damaging	Het
Zfp110	T	C	7: 12,848,541	V372A	possibly damaging	Het
Zmym2	C	T	14: 56,911,183	S318L	probably benign	Het

Other mutations in Stxbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01989:Stxbp1	APN	2	32812064	missense	probably benign	0.00
IGL02743:Stxbp1	APN	2	32819901	missense	probably damaging	0.98
volume	UTSW	2	32801893	missense	probably damaging	0.99
volume2	UTSW	2	32801883	missense	possibly damaging	0.95
P0021:Stxbp1	UTSW	2	32823538	missense	probably damaging	0.96
R0217:Stxbp1	UTSW	2	32801870	missense	possibly damaging	0.69
R0269:Stxbp1	UTSW	2	32802783	missense	probably damaging	1.00
R0285:Stxbp1	UTSW	2	32823542	missense	probably benign	0.00
R0335:Stxbp1	UTSW	2	32802905	splice site	probably benign
R0565:Stxbp1	UTSW	2	32819848	missense	probably benign	0.07
R0617:Stxbp1	UTSW	2	32802783	missense	probably damaging	1.00
R0690:Stxbp1	UTSW	2	32800695	splice site	probably benign
R1022:Stxbp1	UTSW	2	32814967	splice site	probably null
R1024:Stxbp1	UTSW	2	32814967	splice site	probably null
R1295:Stxbp1	UTSW	2	32794636	missense	probably benign	0.18
R1296:Stxbp1	UTSW	2	32794636	missense	probably benign	0.18
R1699:Stxbp1	UTSW	2	32800617	missense	probably damaging	0.99
R1744:Stxbp1	UTSW	2	32806719	critical splice donor site	probably null
R2004:Stxbp1	UTSW	2	32798189	missense	probably damaging	0.99
R2151:Stxbp1	UTSW	2	32802856	missense	probably damaging	1.00
R2153:Stxbp1	UTSW	2	32802856	missense	probably damaging	1.00
R2154:Stxbp1	UTSW	2	32802856	missense	probably damaging	1.00
R5170:Stxbp1	UTSW	2	32794674	missense	probably benign	0.01
R6083:Stxbp1	UTSW	2	32796018	missense	possibly damaging	0.95
R6295:Stxbp1	UTSW	2	32794609	missense	probably damaging	0.98
R6504:Stxbp1	UTSW	2	32801883	missense	possibly damaging	0.95
R6770:Stxbp1	UTSW	2	32819889	missense	probably benign	0.01
R6954:Stxbp1	UTSW	2	32801893	missense	probably damaging	0.99
R7283:Stxbp1	UTSW	2	32815014	missense	probably damaging	1.00
R7382:Stxbp1	UTSW	2	32798168	missense	probably damaging	1.00
R7541:Stxbp1	UTSW	2	32818505	missense	probably damaging	0.99
R7734:Stxbp1	UTSW	2	32801820	missense	probably benign	0.00
R8364:Stxbp1	UTSW	2	32806762	missense	possibly damaging	0.72
R8462:Stxbp1	UTSW	2	32817281	splice site	probably null
R9143:Stxbp1	UTSW	2	32798145	missense	probably damaging	0.99
R9246:Stxbp1	UTSW	2	32789574	missense	possibly damaging	0.85
R9267:Stxbp1	UTSW	2	32818505	missense	probably damaging	1.00
R9501:Stxbp1	UTSW	2	32802813	missense	probably benign	0.00
R9600:Stxbp1	UTSW	2	32811108	missense	possibly damaging	0.80
RF010:Stxbp1	UTSW	2	32821915	missense	probably benign	0.06
X0060:Stxbp1	UTSW	2	32802768	missense	probably damaging	1.00
Z1177:Stxbp1	UTSW	2	32802754	missense	probably null	1.00
Z1177:Stxbp1	UTSW	2	32809128	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCTACTGTCACTTGGCCTAACCC -3'
(R):5'- TTCTGAAAGCAGCCACCATCCG -3'

Sequencing Primer
(F):5'- CGCAAGCATTTTCTTGGAaaaagg -3'
(R):5'- ATGCCTGCATACGTGTGT -3'

Posted On

2014-03-28