Mutagenetix > Incidental Mutation

Incidental Mutation 'R0617:Stxbp1'

58387

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

038806-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.725) question?

Stock #

R0617 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

32787602-32847245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 32802783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 407 (I407S)

Ref Sequence

ENSEMBL: ENSMUSP00000089051 (fasta)

Gene Model

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

AlphaFold

O08599

Predicted Effect

probably damaging
Transcript: ENSMUST00000050000
AA Change: I407S

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

SMART Domains

Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: I407S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000077458
AA Change: I407S

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

SMART Domains

Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: I407S

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

0.8737

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

98% (130/133)

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	C	A	19: 11,112,400	L40F	probably damaging	Het
4930555F03Rik	A	T	8: 49,500,492		noncoding transcript	Het
A630073D07Rik	T	C	6: 132,626,737		probably benign	Het
Abca16	G	A	7: 120,433,611		probably benign	Het
Abca5	A	T	11: 110,279,689	D1265E	probably damaging	Het
Abcf1	C	T	17: 35,961,187	V312I	probably benign	Het
Abhd12	T	A	2: 150,846,365		probably null	Het
Adam23	A	G	1: 63,543,147	H318R	probably benign	Het
Adcy2	T	A	13: 68,678,606	K660*	probably null	Het
Adgrf3	T	C	5: 30,195,080	T972A	probably benign	Het
Adipoq	T	A	16: 23,155,410	D62E	probably damaging	Het
Akap2	T	C	4: 57,829,434		probably benign	Het
Alk	G	T	17: 72,603,583	P43T	probably damaging	Het
Arap2	AT	ATT	5: 62,649,907		probably benign	Het
Arhgef28	G	T	13: 97,970,355	T687K	probably benign	Het
Arrb1	T	C	7: 99,594,677	L278P	probably damaging	Het
Atad2b	C	A	12: 4,937,401	D76E	probably benign	Het
Atm	A	T	9: 53,458,941	Y2290*	probably null	Het
Atrn	T	A	2: 130,995,085		probably null	Het
Bpifb1	A	G	2: 154,212,947	D253G	possibly damaging	Het
Bpifb9b	C	T	2: 154,319,625	T559M	probably benign	Het
Bsn	T	C	9: 108,107,240	E3205G	unknown	Het
Cacna1c	T	C	6: 118,602,213	Y1599C	probably damaging	Het
Ccdc40	A	G	11: 119,242,804	D590G	probably damaging	Het
Ccdc68	A	G	18: 69,946,552		probably null	Het
Ccdc97	G	A	7: 25,714,420	R279C	probably damaging	Het
Ccm2l	A	G	2: 153,070,900	T120A	probably damaging	Het
Cfap54	T	C	10: 92,829,650		probably benign	Het
Cfh	A	G	1: 140,100,883	S1043P	probably benign	Het
Chil3	T	C	3: 106,155,756	K173E	probably benign	Het
Cib2	T	C	9: 54,554,496	D26G	possibly damaging	Het
Col24a1	T	C	3: 145,314,120	V84A	probably damaging	Het
Csn3	T	C	5: 87,929,871	Y79H	probably benign	Het
Ddx47	T	A	6: 135,017,122	V149E	probably damaging	Het
Dennd5b	A	T	6: 149,033,262		probably benign	Het
Desi1	T	C	15: 81,998,198	N109D	probably damaging	Het
Fam13c	T	C	10: 70,536,352		probably benign	Het
Fam234a	A	T	17: 26,216,617	D264E	probably benign	Het
Fanca	A	G	8: 123,288,070	F831S	probably damaging	Het
Fancm	C	T	12: 65,097,317	R518*	probably null	Het
Fat2	A	G	11: 55,311,843	V135A	possibly damaging	Het
Fbxl17	A	C	17: 63,384,992	F42V	probably damaging	Het
Fgd3	A	T	13: 49,264,697	V631E	possibly damaging	Het
Fhod3	G	A	18: 25,112,679		probably benign	Het
Focad	T	C	4: 88,121,288		probably benign	Het
Foxn4	C	A	5: 114,261,068		probably benign	Het
Gm1673	T	C	5: 33,983,552		probably benign	Het
Gm2381	A	T	7: 42,819,978	C241S	probably damaging	Het
Gm6483	T	G	8: 19,693,709	F117V	probably damaging	Het
Hectd4	T	C	5: 121,343,232		probably benign	Het
Hecw1	T	A	13: 14,280,442	Q676L	probably benign	Het
Hipk2	G	A	6: 38,747,485	R437C	possibly damaging	Het
Ifnar1	T	C	16: 91,501,682	Y396H	probably damaging	Het
Ints5	A	T	19: 8,896,019	K447N	probably damaging	Het
Iqsec1	T	C	6: 90,689,970	Y495C	probably damaging	Het
Itga5	C	T	15: 103,356,315		probably null	Het
Kcnk4	T	A	19: 6,928,160		probably benign	Het
Kmo	A	G	1: 175,647,190	T174A	possibly damaging	Het
Krt36	T	C	11: 100,102,275	D458G	probably damaging	Het
Krtap16-1	G	T	11: 99,986,495	P28T	probably damaging	Het
Lama3	T	C	18: 12,419,258		probably null	Het
Lrrc9	T	C	12: 72,483,014	S920P	probably damaging	Het
Lrrk2	A	T	15: 91,752,278	Y1485F	probably benign	Het
Mical1	C	T	10: 41,481,315	A372V	probably damaging	Het
Mtr	C	T	13: 12,221,432	R636Q	probably benign	Het
Muc4	A	T	16: 32,752,107	T662S	possibly damaging	Het
Myo10	G	A	15: 25,738,005	V546M	probably damaging	Het
Nbeal1	G	A	1: 60,281,832	W2034*	probably null	Het
Nhlrc3	T	C	3: 53,458,623	T150A	probably damaging	Het
Nkx2-1	T	C	12: 56,534,855	H69R	possibly damaging	Het
Nlrp4g	A	T	9: 124,349,540		noncoding transcript	Het
Nod2	A	G	8: 88,653,231	N120S	probably benign	Het
Nol8	T	C	13: 49,654,445	F46L	possibly damaging	Het
Ntrk1	T	C	3: 87,783,933	D308G	possibly damaging	Het
Olfr1036	A	G	2: 86,075,141	M134V	probably benign	Het
Olfr1124	A	G	2: 87,434,661	D58G	probably damaging	Het
Olfr1196	A	G	2: 88,700,696	V211A	probably damaging	Het
Olfr1459	T	C	19: 13,146,363	M99V	probably benign	Het
Olfr1477	C	A	19: 13,502,536	N64K	probably damaging	Het
Olfr313	T	C	11: 58,817,149	V47A	probably damaging	Het
Olfr466	A	T	13: 65,152,878	Y218F	possibly damaging	Het
Olfr640	A	T	7: 104,021,989	S110T	probably damaging	Het
Oog3	A	T	4: 144,160,214	V112D	probably benign	Het
Pcdhb8	C	T	18: 37,357,047	R593C	probably benign	Het
Pgm3	A	G	9: 86,556,190		probably null	Het
Pirt	T	A	11: 66,926,172	V103E	probably damaging	Het
Plxnc1	T	A	10: 94,799,368	D1332V	probably damaging	Het
Ppfia4	A	T	1: 134,328,780	V122E	probably damaging	Het
Pramef17	A	G	4: 143,993,518		probably benign	Het
Prmt2	C	T	10: 76,208,683		probably benign	Het
Prrc2a	G	T	17: 35,153,560	P1702T	probably damaging	Het
Prss39	A	T	1: 34,500,198	H173L	probably damaging	Het
Rabl6	A	G	2: 25,586,866		probably null	Het
Rb1cc1	T	A	1: 6,248,790	I794K	possibly damaging	Het
Reln	T	C	5: 21,920,537	D2716G	probably damaging	Het
Sbf2	ACC	AC	7: 110,330,683		probably null	Het
Sema6d	T	A	2: 124,660,745	F583L	possibly damaging	Het
Setx	T	A	2: 29,146,807	H1101Q	possibly damaging	Het
Sis	A	G	3: 72,965,605	C67R	probably damaging	Het
Skint1	T	A	4: 112,029,399		probably benign	Het
Smg6	C	A	11: 75,162,931	T1413K	probably benign	Het
Spata31d1a	A	T	13: 59,702,259	I685N	possibly damaging	Het
Spef2	T	A	15: 9,592,758	N1499I	probably damaging	Het
Stk11ip	T	A	1: 75,532,288		probably null	Het
Svil	T	C	18: 5,117,002	S2059P	probably damaging	Het
Syne1	C	T	10: 5,350,933	V932M	probably damaging	Het
Tacc1	A	C	8: 25,178,004		probably benign	Het
Tbc1d13	C	A	2: 30,135,564		probably benign	Het
Tbc1d15	A	C	10: 115,239,299	D59E	probably damaging	Het
Tcaf2	A	G	6: 42,642,511	F194S	probably damaging	Het
Terf2ip	T	A	8: 112,011,495	M5K	probably benign	Het
Tgfbr2	A	T	9: 116,158,320	D40E	probably benign	Het
Tm4sf5	T	A	11: 70,510,669	S165T	probably damaging	Het
Tmprss3	A	T	17: 31,193,912	C129S	probably damaging	Het
Tmx2	T	C	2: 84,672,396	D256G	probably benign	Het
Tnr	A	G	1: 159,868,103	D532G	probably damaging	Het
Tnrc18	T	A	5: 142,776,739	H465L	unknown	Het
Togaram2	A	T	17: 71,700,509	Q350L	possibly damaging	Het
Topaz1	G	A	9: 122,749,906	C627Y	possibly damaging	Het
Tpx2	A	T	2: 152,873,138	Q93L	probably benign	Het
Trim54	T	C	5: 31,136,182		probably null	Het
Troap	T	A	15: 99,082,660	C574S	probably damaging	Het
Ubr4	T	C	4: 139,479,062		probably null	Het
Vmn2r51	A	G	7: 10,100,469	V214A	possibly damaging	Het
Vmn2r66	A	T	7: 84,995,276	M642K	probably benign	Het
Vwa5a	T	A	9: 38,723,895	I232N	probably damaging	Het
Zcchc6	A	T	13: 59,816,855		probably null	Het
Zfp820	A	T	17: 21,819,704	S214R	probably damaging	Het
Zfp955b	A	T	17: 33,305,463	S43R	probably damaging	Het
Zgrf1	C	T	3: 127,588,038	T1162M	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
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
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'- TGATGCAACCTAGAGGCATCTGGC -3'
(R):5'- AGGGCGTGAACTTCCTGAGAACTG -3'

Sequencing Primer
(F):5'- CATCTGGCAGGCTGAGTG -3'
(R):5'- TGAACTTCCTGAGAACTGTCACC -3'

Posted On

2013-07-11