Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Stxbp1'

565774

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32787602-32847245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32815014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 148 (D148V)

Ref Sequence

ENSEMBL: ENSMUSP00000089051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050000] [ENSMUST00000077458] [ENSMUST00000208840]

AlphaFold

O08599

Predicted Effect

probably damaging
Transcript: ENSMUST00000050000
AA Change: D148V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: D148V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000077458
AA Change: D148V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: D148V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208840

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,274,828	Q1346R	probably damaging	Het
4833439L19Rik	A	G	13: 54,552,691	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abce1	C	A	8: 79,685,256	G592*	probably null	Het
Acad10	A	C	5: 121,649,475	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,203,563	I672V	not run	Het
Adgrb1	A	T	15: 74,580,663	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794	C641W		Het
Clip3	T	C	7: 30,305,812	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,766,914	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,905,556	N280I	probably benign	Het
Diaph3	A	G	14: 86,866,584	F788S	probably damaging	Het
Drc7	A	G	8: 95,071,579	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Fat4	A	T	3: 38,889,693	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,742,357	K217*	probably null	Het
Igkv12-89	A	G	6: 68,835,077	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526		probably null	Het
Ipo8	T	A	6: 148,824,481	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,451,486	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259	E48G	probably damaging	Het
Myh1	A	T	11: 67,201,844		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192	M296K	probably benign	Het
Olfr228	A	T	2: 86,483,139	I201N	probably damaging	Het
Olfr397	T	C	11: 73,964,808	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259	I140L	probably damaging	Het
Papolg	A	G	11: 23,867,394	V601A	not run	Het
Pde4dip	T	C	3: 97,758,882	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980		probably null	Het
Pkhd1l1	A	G	15: 44,503,280	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645		probably null	Het
Prkdc	A	G	16: 15,717,764	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384	T80A	probably benign	Het
Ptpn4	C	T	1: 119,682,531	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839		probably null	Het
Runx1t1	G	A	4: 13,846,935	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779		probably null	Het
Serpina16	A	C	12: 103,672,432		probably null	Het
Slc17a3	A	T	13: 23,855,848	M290L		Het
Slc6a4	A	T	11: 77,010,696	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452	H130R	probably damaging	Het
Tirap	G	A	9: 35,188,929	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem51	T	A	4: 142,031,783	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738	A724G	unknown	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
R1472: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
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'- TGGGACACAAAAGATGCCAC -3'
(R):5'- AGCTGTTTACAGTTTTCAACCC -3'

Sequencing Primer
(F):5'- CCCAGACCAGTCTAGCATGGTG -3'
(R):5'- CACTAACAGTTGAAGTGCTTGGC -3'

Posted On

2019-06-26