Mutagenetix > Incidental Mutation

Incidental Mutation 'R1699:Stxbp1'

192472

Institutional Source

Beutler Lab

Gene Symbol

Stxbp1

Ensembl Gene

ENSMUSG00000026797

Gene Name

syntaxin binding protein 1

Synonyms

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

MMRRC Submission

039732-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R1699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32677619-32737249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32690629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 475 (L475P)

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: L475P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: L475P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000077458
AA Change: L475P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: L475P

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,337,363 (GRCm39)	E2406G	possibly damaging	Het
Adam6b	T	A	12: 113,454,205 (GRCm39)	F341I	probably benign	Het
Adam8	A	T	7: 139,563,224 (GRCm39)	N767K	possibly damaging	Het
Aig1	T	C	10: 13,744,366 (GRCm39)	D46G	possibly damaging	Het
Alms1	A	G	6: 85,599,862 (GRCm39)	I2032V	possibly damaging	Het
Ankrd16	A	G	2: 11,789,204 (GRCm39)	I264V	probably benign	Het
Areg	T	G	5: 91,291,357 (GRCm39)	V100G	probably damaging	Het
Bcan	A	G	3: 87,896,543 (GRCm39)	Y718H	probably damaging	Het
Brsk2	T	A	7: 141,539,200 (GRCm39)	I188N	probably damaging	Het
Cdt1	T	C	8: 123,296,722 (GRCm39)	Y203H	probably damaging	Het
Cfap119	A	T	7: 127,186,028 (GRCm39)		probably null	Het
Chil3	A	C	3: 106,067,682 (GRCm39)		probably null	Het
Ciao2b	A	G	8: 105,366,718 (GRCm39)	V132A	probably damaging	Het
Cimip2c	A	G	5: 30,641,210 (GRCm39)		probably null	Het
Cth	A	G	3: 157,613,073 (GRCm39)	L253P	probably damaging	Het
Cyp11b1	A	G	15: 74,712,666 (GRCm39)	F132L	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah11	A	G	12: 118,154,603 (GRCm39)	S226P	probably damaging	Het
Egfr	A	T	11: 16,809,019 (GRCm39)	Q71L	probably benign	Het
Eml6	T	A	11: 29,696,282 (GRCm39)	K1940*	probably null	Het
Epn2	T	A	11: 61,414,014 (GRCm39)	K391*	probably null	Het
Erich1	A	T	8: 14,140,259 (GRCm39)	S2T	possibly damaging	Het
Evi5	A	C	5: 107,966,786 (GRCm39)	L245R	probably damaging	Het
Evpl	T	C	11: 116,118,414 (GRCm39)	Y731C	probably damaging	Het
Exoc3l	G	A	8: 106,021,645 (GRCm39)	H128Y	probably benign	Het
Extl1	G	A	4: 134,091,894 (GRCm39)	Q320*	probably null	Het
Fam91a1	T	A	15: 58,304,797 (GRCm39)	S416T	probably benign	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fer1l4	A	G	2: 155,871,605 (GRCm39)	F1392L	probably benign	Het
Fstl4	T	C	11: 53,059,005 (GRCm39)	I488T	possibly damaging	Het
Gak	A	T	5: 108,752,243 (GRCm39)	Y338*	probably null	Het
Garin4	T	A	1: 190,896,018 (GRCm39)	E208D	probably benign	Het
Glp2r	T	C	11: 67,648,367 (GRCm39)	T112A	probably benign	Het
Glrb	G	A	3: 80,769,081 (GRCm39)	T180I	probably damaging	Het
Gm10118	C	T	10: 63,762,671 (GRCm39)		probably benign	Het
Gpr19	A	T	6: 134,847,192 (GRCm39)	F72I	possibly damaging	Het
Grin3b	C	A	10: 79,811,716 (GRCm39)	N740K	probably damaging	Het
Gstk1	A	T	6: 42,223,535 (GRCm39)	T42S	probably benign	Het
Hoxd1	G	A	2: 74,594,626 (GRCm39)	A294T	probably benign	Het
Hspg2	T	A	4: 137,275,323 (GRCm39)		probably null	Het
Ift74	A	T	4: 94,573,940 (GRCm39)	N472I	probably benign	Het
Il1a	C	T	2: 129,144,813 (GRCm39)	D202N	probably damaging	Het
Islr	T	C	9: 58,064,778 (GRCm39)	D243G	probably damaging	Het
Kif21a	C	T	15: 90,843,946 (GRCm39)	E1098K	probably damaging	Het
Krtap16-1	T	C	11: 99,876,852 (GRCm39)	E184G	probably damaging	Het
Lrp1b	A	G	2: 41,075,974 (GRCm39)	I1889T	possibly damaging	Het
Mcpt4	A	G	14: 56,297,416 (GRCm39)	*247Q	probably null	Het
Megf10	T	C	18: 57,410,802 (GRCm39)		probably null	Het
Mettl2	T	A	11: 105,030,544 (GRCm39)	H373Q	probably benign	Het
Mocos	A	G	18: 24,816,273 (GRCm39)	K617E	probably damaging	Het
Ms4a8a	A	G	19: 11,053,761 (GRCm39)	I115T	probably damaging	Het
Ndst1	T	C	18: 60,828,580 (GRCm39)	Y658C	probably damaging	Het
Nin	G	A	12: 70,077,712 (GRCm39)	A1031V	probably benign	Het
Nin	C	A	12: 70,092,337 (GRCm39)	K657N	possibly damaging	Het
Noc4l	G	A	5: 110,797,713 (GRCm39)	R344*	probably null	Het
Notch2	T	C	3: 98,052,443 (GRCm39)	S1980P	probably damaging	Het
Npat	C	T	9: 53,473,960 (GRCm39)	S584L	probably benign	Het
Nphp4	A	G	4: 152,581,121 (GRCm39)	T102A	probably damaging	Het
Olfml2b	A	G	1: 170,472,642 (GRCm39)	N51S	possibly damaging	Het
Or2n1e	A	G	17: 38,585,932 (GRCm39)	K90R	probably benign	Het
Or2y16	T	A	11: 49,335,116 (GRCm39)	I146N	possibly damaging	Het
Or5al1	T	C	2: 85,990,280 (GRCm39)	I145V	probably benign	Het
Or5w22	A	G	2: 87,362,427 (GRCm39)	T17A	probably benign	Het
Pced1b	T	A	15: 97,282,758 (GRCm39)	W266R	probably damaging	Het
Pdcd6ip	A	G	9: 113,507,422 (GRCm39)	V378A	probably damaging	Het
Pde8b	T	A	13: 95,169,374 (GRCm39)	K683N	probably damaging	Het
Pfas	T	G	11: 68,888,872 (GRCm39)		probably null	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plcd4	T	G	1: 74,587,394 (GRCm39)	S51R	probably benign	Het
Plekhh2	T	A	17: 84,884,612 (GRCm39)	Y775*	probably null	Het
Polr3a	G	A	14: 24,534,232 (GRCm39)	P91L	probably damaging	Het
Ppp4r3b	C	T	11: 29,163,765 (GRCm39)	T47I	possibly damaging	Het
Pter	A	T	2: 12,999,572 (GRCm39)	D169V	probably damaging	Het
Ptpn12	A	G	5: 21,203,168 (GRCm39)	S537P	probably benign	Het
Ptpru	T	A	4: 131,506,361 (GRCm39)	D1067V	probably damaging	Het
Rcn1	A	T	2: 105,229,350 (GRCm39)	D67E	probably damaging	Het
Rfc4	T	C	16: 22,932,983 (GRCm39)	E318G	probably benign	Het
Samd13	C	A	3: 146,368,469 (GRCm39)	R41L	probably benign	Het
Shoc1	T	C	4: 59,113,926 (GRCm39)	K13R	unknown	Het
Slc6a2	T	C	8: 93,699,440 (GRCm39)	I156T	possibly damaging	Het
Spag16	T	C	1: 70,036,015 (GRCm39)	F348L	probably benign	Het
Spag4	T	C	2: 155,907,342 (GRCm39)	Y21H	probably damaging	Het
Stam2	G	A	2: 52,593,187 (GRCm39)	A368V	possibly damaging	Het
Stc1	A	T	14: 69,275,776 (GRCm39)	M190L	probably benign	Het
Syn3	A	T	10: 85,916,075 (GRCm39)	Y304N	probably damaging	Het
Tbc1d15	G	T	10: 115,056,219 (GRCm39)	T251K	probably benign	Het
Tbpl2	A	T	2: 23,985,057 (GRCm39)	M29K	probably benign	Het
Tead3	T	G	17: 28,553,698 (GRCm39)	Q170H	possibly damaging	Het
Tpbpb	T	C	13: 61,049,977 (GRCm39)	N51D	probably benign	Het
Tstd3	A	G	4: 21,759,400 (GRCm39)	M124T	probably benign	Het
Ttyh1	T	A	7: 4,122,695 (GRCm39)	H14Q	possibly damaging	Het
Tubgcp4	G	A	2: 121,020,374 (GRCm39)	W449*	probably null	Het
Txndc11	A	G	16: 10,905,639 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,296,024 (GRCm39)	D2615E	probably damaging	Het
Vars1	A	G	17: 35,233,734 (GRCm39)	E1020G	possibly damaging	Het
Vmn2r58	A	G	7: 41,509,951 (GRCm39)	I542T	probably benign	Het
Vwf	A	G	6: 125,620,032 (GRCm39)	Y1570C	probably damaging	Het
Vwf	A	T	6: 125,662,863 (GRCm39)	Y2749F	possibly damaging	Het
Zfand1	A	C	3: 10,406,115 (GRCm39)	V198G	possibly damaging	Het
Zfp536	G	A	7: 37,268,879 (GRCm39)	T179I	probably damaging	Het
Zfp599	T	C	9: 22,161,700 (GRCm39)	Y155C	probably benign	Het

Other mutations in Stxbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01989:Stxbp1	APN	2	32,702,076 (GRCm39)	missense	probably benign	0.00
IGL02743:Stxbp1	APN	2	32,709,913 (GRCm39)	missense	probably damaging	0.98
volume	UTSW	2	32,691,905 (GRCm39)	missense	probably damaging	0.99
volume2	UTSW	2	32,691,895 (GRCm39)	missense	possibly damaging	0.95
P0021:Stxbp1	UTSW	2	32,713,550 (GRCm39)	missense	probably damaging	0.96
R0217:Stxbp1	UTSW	2	32,691,882 (GRCm39)	missense	possibly damaging	0.69
R0269:Stxbp1	UTSW	2	32,692,795 (GRCm39)	missense	probably damaging	1.00
R0285:Stxbp1	UTSW	2	32,713,554 (GRCm39)	missense	probably benign	0.00
R0335:Stxbp1	UTSW	2	32,692,917 (GRCm39)	splice site	probably benign
R0565:Stxbp1	UTSW	2	32,709,860 (GRCm39)	missense	probably benign	0.07
R0617:Stxbp1	UTSW	2	32,692,795 (GRCm39)	missense	probably damaging	1.00
R0690:Stxbp1	UTSW	2	32,690,707 (GRCm39)	splice site	probably benign
R1022:Stxbp1	UTSW	2	32,704,979 (GRCm39)	splice site	probably null
R1024:Stxbp1	UTSW	2	32,704,979 (GRCm39)	splice site	probably null
R1295:Stxbp1	UTSW	2	32,684,648 (GRCm39)	missense	probably benign	0.18
R1296:Stxbp1	UTSW	2	32,684,648 (GRCm39)	missense	probably benign	0.18
R1472:Stxbp1	UTSW	2	32,684,648 (GRCm39)	missense	probably benign	0.18
R1744:Stxbp1	UTSW	2	32,696,731 (GRCm39)	critical splice donor site	probably null
R2004:Stxbp1	UTSW	2	32,688,201 (GRCm39)	missense	probably damaging	0.99
R2151:Stxbp1	UTSW	2	32,692,868 (GRCm39)	missense	probably damaging	1.00
R2153:Stxbp1	UTSW	2	32,692,868 (GRCm39)	missense	probably damaging	1.00
R2154:Stxbp1	UTSW	2	32,692,868 (GRCm39)	missense	probably damaging	1.00
R5170:Stxbp1	UTSW	2	32,684,686 (GRCm39)	missense	probably benign	0.01
R6083:Stxbp1	UTSW	2	32,686,030 (GRCm39)	missense	possibly damaging	0.95
R6295:Stxbp1	UTSW	2	32,684,621 (GRCm39)	missense	probably damaging	0.98
R6504:Stxbp1	UTSW	2	32,691,895 (GRCm39)	missense	possibly damaging	0.95
R6770:Stxbp1	UTSW	2	32,709,901 (GRCm39)	missense	probably benign	0.01
R6954:Stxbp1	UTSW	2	32,691,905 (GRCm39)	missense	probably damaging	0.99
R7283:Stxbp1	UTSW	2	32,705,026 (GRCm39)	missense	probably damaging	1.00
R7382:Stxbp1	UTSW	2	32,688,180 (GRCm39)	missense	probably damaging	1.00
R7541:Stxbp1	UTSW	2	32,708,517 (GRCm39)	missense	probably damaging	0.99
R7734:Stxbp1	UTSW	2	32,691,832 (GRCm39)	missense	probably benign	0.00
R8364:Stxbp1	UTSW	2	32,696,774 (GRCm39)	missense	possibly damaging	0.72
R8462:Stxbp1	UTSW	2	32,707,293 (GRCm39)	splice site	probably null
R9143:Stxbp1	UTSW	2	32,688,157 (GRCm39)	missense	probably damaging	0.99
R9246:Stxbp1	UTSW	2	32,679,586 (GRCm39)	missense	possibly damaging	0.85
R9267:Stxbp1	UTSW	2	32,708,517 (GRCm39)	missense	probably damaging	1.00
R9501:Stxbp1	UTSW	2	32,692,825 (GRCm39)	missense	probably benign	0.00
R9600:Stxbp1	UTSW	2	32,701,120 (GRCm39)	missense	possibly damaging	0.80
RF010:Stxbp1	UTSW	2	32,711,927 (GRCm39)	missense	probably benign	0.06
X0060:Stxbp1	UTSW	2	32,692,780 (GRCm39)	missense	probably damaging	1.00
Z1177:Stxbp1	UTSW	2	32,699,140 (GRCm39)	missense	probably damaging	0.99
Z1177:Stxbp1	UTSW	2	32,692,766 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGTCCTCAGAGATTGACAGAGCC -3'
(R):5'- AACTGCCCATGCTGCTACACAGAG -3'

Sequencing Primer
(F):5'- CACAGAGGACCAGGGACTC -3'
(R):5'- cagagaaactctgtctcaaagaatc -3'

Posted On

2014-05-14