Mutagenetix > Incidental Mutation

Incidental Mutation 'R0565:Stxbp1'

46104

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

038756-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.635) question?

Stock #

R0565 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

32677619-32737249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32709860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 78 (T78A)

Ref Sequence

ENSEMBL: ENSMUSP00000089051 (fasta)

Gene Model

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

AlphaFold

O08599

Predicted Effect

probably benign
Transcript: ENSMUST00000050000
AA Change: T78A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: T78A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000077458
AA Change: T78A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: T78A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192333

Predicted Effect

probably benign
Transcript: ENSMUST00000208840
AA Change: T41A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0825

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.6%

Validation Efficiency

100% (73/73)

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
4930562C15Rik	A	T	16: 4,682,200 (GRCm39)	H1010L	probably benign	Het
A2ml1	C	A	6: 128,545,706 (GRCm39)	E474*	probably null	Het
Agtr1b	T	C	3: 20,369,838 (GRCm39)	H256R	probably damaging	Het
Amacr	C	T	15: 10,982,032 (GRCm39)	A46V	possibly damaging	Het
Atosb	A	T	4: 43,034,647 (GRCm39)		probably benign	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Caskin2	T	C	11: 115,691,842 (GRCm39)	E981G	probably damaging	Het
Ccdc88a	A	G	11: 29,411,042 (GRCm39)		probably benign	Het
Cd180	A	G	13: 102,839,382 (GRCm39)		probably benign	Het
Cd200l1	T	A	16: 45,264,536 (GRCm39)		probably benign	Het
Cemip	G	A	7: 83,613,318 (GRCm39)	H627Y	probably damaging	Het
Cep131	G	T	11: 119,964,588 (GRCm39)	H289Q	probably damaging	Het
Cep350	G	A	1: 155,836,941 (GRCm39)		probably benign	Het
Cfap52	A	T	11: 67,840,425 (GRCm39)	C169S	probably benign	Het
Cps1	A	T	1: 67,205,608 (GRCm39)	T544S	possibly damaging	Het
Cul7	T	C	17: 46,962,929 (GRCm39)	S187P	probably damaging	Het
Dhx40	C	A	11: 86,661,993 (GRCm39)	R688L	probably damaging	Het
E330034G19Rik	C	A	14: 24,356,985 (GRCm39)	Q174K	probably benign	Het
Efna5	T	C	17: 63,188,031 (GRCm39)	Y32C	probably damaging	Het
Ethe1	A	G	7: 24,307,314 (GRCm39)	H176R	probably benign	Het
Exoc3	A	G	13: 74,330,394 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,362,686 (GRCm39)	N232Y	possibly damaging	Het
Fndc9	C	T	11: 46,128,984 (GRCm39)	L168F	probably damaging	Het
Fpr-rs3	G	A	17: 20,844,283 (GRCm39)	A286V	probably damaging	Het
Immt	T	A	6: 71,823,467 (GRCm39)		probably benign	Het
Ipo7	T	C	7: 109,648,800 (GRCm39)		probably benign	Het
Ipo8	A	T	6: 148,688,221 (GRCm39)	L747H	probably damaging	Het
Ireb2	A	T	9: 54,807,267 (GRCm39)	N610Y	probably damaging	Het
Irs2	A	G	8: 11,054,592 (GRCm39)	V1280A	probably damaging	Het
Kcnj3	T	A	2: 55,485,276 (GRCm39)	M458K	probably benign	Het
Kl	A	G	5: 150,904,409 (GRCm39)	K387R	possibly damaging	Het
L3mbtl2	C	A	15: 81,568,487 (GRCm39)		probably benign	Het
Lamb1	A	C	12: 31,348,914 (GRCm39)	I649L	probably benign	Het
Lipm	A	C	19: 34,093,906 (GRCm39)	L274F	probably benign	Het
Lrfn3	A	G	7: 30,060,216 (GRCm39)	V3A	probably benign	Het
Lrrc8c	A	C	5: 105,754,894 (GRCm39)	D223A	probably damaging	Het
Ltn1	C	A	16: 87,212,898 (GRCm39)	K554N	probably benign	Het
Mertk	T	C	2: 128,613,403 (GRCm39)	I473T	probably benign	Het
Mfsd12	C	A	10: 81,197,243 (GRCm39)	N245K	probably benign	Het
Mmp16	A	G	4: 17,987,705 (GRCm39)	D89G	probably damaging	Het
Myo5a	T	A	9: 75,087,394 (GRCm39)	N1083K	probably benign	Het
Ncapd3	C	T	9: 26,999,294 (GRCm39)	A1290V	probably benign	Het
Nefm	A	G	14: 68,362,070 (GRCm39)	S65P	probably damaging	Het
Nt5c2	C	T	19: 46,886,064 (GRCm39)	R220H	probably damaging	Het
Or4c102	T	A	2: 88,422,353 (GRCm39)	D68E	probably benign	Het
Osbpl1a	A	T	18: 12,892,501 (GRCm39)	S438R	probably damaging	Het
Pcdhb5	T	C	18: 37,453,820 (GRCm39)	S67P	possibly damaging	Het
Per3	A	T	4: 151,118,409 (GRCm39)	I228N	probably damaging	Het
Pnpla7	T	G	2: 24,870,129 (GRCm39)		probably benign	Het
Ppp1r15b	G	T	1: 133,064,391 (GRCm39)		probably benign	Het
Psmd2	G	T	16: 20,479,176 (GRCm39)	L678F	probably null	Het
Ptch2	A	G	4: 116,963,340 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,312,158 (GRCm39)	D959E	probably benign	Het
Rph3al	C	T	11: 75,724,227 (GRCm39)		probably null	Het
Sec31b	T	A	19: 44,512,992 (GRCm39)	E499V	probably damaging	Het
Sel1l	T	C	12: 91,778,663 (GRCm39)	I667M	probably benign	Het
Sel1l	C	A	12: 91,780,719 (GRCm39)	V641L	possibly damaging	Het
Slc7a1	T	A	5: 148,288,879 (GRCm39)	I123F	probably damaging	Het
Smarca2	G	A	19: 26,659,275 (GRCm39)	R855Q	possibly damaging	Het
Sphk1	G	T	11: 116,427,184 (GRCm39)		probably benign	Het
Spink12	C	A	18: 44,237,755 (GRCm39)	S11*	probably null	Het
Sstr2	A	T	11: 113,516,445 (GRCm39)	I342F	probably benign	Het
Trim11	T	A	11: 58,881,410 (GRCm39)	S434R	probably damaging	Het
Ubr2	T	C	17: 47,266,812 (GRCm39)	E1113G	probably damaging	Het
Upb1	T	A	10: 75,264,188 (GRCm39)		probably benign	Het
Vit	T	A	17: 78,932,266 (GRCm39)	C458S	probably damaging	Het
Vmn1r58	T	C	7: 5,414,165 (GRCm39)	I22V	probably benign	Het
Vps25	T	C	11: 101,149,731 (GRCm39)		probably benign	Het
Wbp2	G	T	11: 115,973,211 (GRCm39)	D65E	possibly damaging	Het
Wdr72	A	G	9: 74,124,588 (GRCm39)	D980G	probably benign	Het
Xkr8	A	C	4: 132,458,228 (GRCm39)		probably null	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
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
R1699:Stxbp1	UTSW	2	32,690,629 (GRCm39)	missense	probably damaging	0.99
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'- GCCTTACTTCTCCCTGCATAAGAGC -3'
(R):5'- AGCTGCCAGTTGAACCTTGAACC -3'

Sequencing Primer
(F):5'- TGCATAAGAGCCCCACTTTC -3'
(R):5'- GAACCTTGAACCATGTGTACCTG -3'

Posted On

2013-06-11