Mutagenetix > Incidental Mutation

Incidental Mutation 'R4683:Stxbp3'

500751

Institutional Source

Beutler Lab

Gene Symbol

Stxbp3

Ensembl Gene

ENSMUSG00000027882

Gene Name

syntaxin binding protein 3

Synonyms

Stxbp3, Stxbp3a, Munc-18c

MMRRC Submission

041935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108700496-108747818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108708188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 371 (D371G)

Ref Sequence

ENSEMBL: ENSMUSP00000099681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102621]

AlphaFold

Q60770

PDB Structure

Re-refinement of the crystal structure of Munc18-3 and Syntaxin4 N-peptide complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000102621
AA Change: D371G

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

SMART Domains

Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: D371G

Domain	Start	End	E-Value	Type
Pfam:Sec1	33	576	5.9e-107	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150010

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,709 (GRCm39)	V56A	probably damaging	Het
Acyp1	A	G	12: 85,325,717 (GRCm39)		probably benign	Het
Adgrb1	A	T	15: 74,459,963 (GRCm39)	K532I	probably damaging	Het
Ahrr	T	A	13: 74,372,885 (GRCm39)		silent	Het
Asz1	T	C	6: 18,055,541 (GRCm39)		probably benign	Het
AW554918	T	C	18: 25,472,852 (GRCm39)	Y219H	probably benign	Het
Ccno	C	A	13: 113,125,543 (GRCm39)		probably null	Het
Cdh17	A	T	4: 11,817,036 (GRCm39)	N816Y	possibly damaging	Het
Clca4a	C	T	3: 144,660,701 (GRCm39)	V708I	probably damaging	Het
Col6a3	T	A	1: 90,701,179 (GRCm39)	Y2579F	unknown	Het
Col6a4	A	G	9: 105,957,329 (GRCm39)	V165A	probably benign	Het
Csf1r	T	A	18: 61,257,983 (GRCm39)	C651S	probably damaging	Het
Cyp4f14	T	C	17: 33,126,985 (GRCm39)	D315G	probably null	Het
Def6	A	G	17: 28,436,609 (GRCm39)	D91G	probably damaging	Het
Dmxl1	T	G	18: 50,011,088 (GRCm39)	S1082A	probably damaging	Het
Dnah2	A	T	11: 69,349,768 (GRCm39)	Y2392N	probably damaging	Het
Dsg4	T	C	18: 20,594,466 (GRCm39)	S532P	probably benign	Het
Efr3a	C	A	15: 65,691,650 (GRCm39)	S126R	probably damaging	Het
Gab1	A	C	8: 81,515,261 (GRCm39)	H352Q	probably benign	Het
Gm1110	A	G	9: 26,831,890 (GRCm39)	M87T	probably damaging	Het
Greb1	C	T	12: 16,761,774 (GRCm39)	M535I	possibly damaging	Het
Greb1l	T	A	18: 10,529,563 (GRCm39)		probably null	Het
Gucy2d	T	C	7: 98,102,650 (GRCm39)	C487R	probably benign	Het
H1f7	A	T	15: 98,154,921 (GRCm39)	I76N	probably damaging	Het
Lrrc2	A	T	9: 110,791,614 (GRCm39)	H122L	possibly damaging	Het
Mrps22	A	T	9: 98,480,359 (GRCm39)		probably null	Het
Mxd3	T	C	13: 55,473,613 (GRCm39)	T202A	probably benign	Het
Neb	T	C	2: 52,134,074 (GRCm39)	H3303R	possibly damaging	Het
Nup133	G	A	8: 124,657,721 (GRCm39)	R405*	probably null	Het
Or13a19	T	C	7: 139,902,681 (GRCm39)	L23P	probably benign	Het
Or14j6	A	G	17: 38,215,039 (GRCm39)	T201A	probably benign	Het
Pard3b	T	C	1: 62,255,675 (GRCm39)	Y629H	probably benign	Het
Pcnx1	A	G	12: 82,033,446 (GRCm39)	D1781G	probably benign	Het
Pcsk5	A	T	19: 17,450,405 (GRCm39)	C1148S	probably damaging	Het
Pcsk9	A	T	4: 106,316,092 (GRCm39)	I117N	possibly damaging	Het
Pcyt1b	C	A	X: 92,789,970 (GRCm39)	P318H	probably damaging	Het
Pfkfb2	T	A	1: 130,634,221 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,114,901 (GRCm39)	E1456G	possibly damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Sh2b2	C	T	5: 136,260,574 (GRCm39)	C214Y	probably damaging	Het
Slc52a2	C	A	15: 76,424,433 (GRCm39)	P224T	probably damaging	Het
Slf2	C	G	19: 44,923,920 (GRCm39)	R245G	probably benign	Het
Sox5	T	C	6: 143,779,193 (GRCm39)	S648G	probably damaging	Het
Stk36	T	A	1: 74,673,344 (GRCm39)	I1079N	probably benign	Het
Trnau1ap	A	T	4: 132,049,063 (GRCm39)	Y47N	probably damaging	Het
Ubr5	C	T	15: 38,038,211 (GRCm39)	R316H	probably damaging	Het
Vmn1r230	C	T	17: 21,067,515 (GRCm39)	R235C	probably benign	Het
Wnt10a	C	T	1: 74,842,296 (GRCm39)	H93Y	unknown	Het
Zfp1005	T	A	2: 150,108,390 (GRCm39)	H50Q	possibly damaging	Het
Zfp52	A	G	17: 21,781,769 (GRCm39)	D539G	probably benign	Het

Other mutations in Stxbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00805:Stxbp3	APN	3	108,723,667 (GRCm39)	missense	probably benign	0.05
IGL01370:Stxbp3	APN	3	108,704,741 (GRCm39)	nonsense	probably null
IGL01810:Stxbp3	APN	3	108,707,468 (GRCm39)	missense	probably benign	0.35
IGL02583:Stxbp3	APN	3	108,708,187 (GRCm39)	missense	probably damaging	1.00
IGL02827:Stxbp3	APN	3	108,717,211 (GRCm39)	missense	probably damaging	1.00
IGL03022:Stxbp3	APN	3	108,708,072 (GRCm39)	missense	probably damaging	1.00
IGL03198:Stxbp3	APN	3	108,734,405 (GRCm39)	missense	probably damaging	0.96
IGL03410:Stxbp3	APN	3	108,709,476 (GRCm39)	missense	probably damaging	1.00
G1patch:Stxbp3	UTSW	3	108,734,916 (GRCm39)	missense	possibly damaging	0.47
R0666:Stxbp3	UTSW	3	108,712,618 (GRCm39)	missense	possibly damaging	0.49
R3887:Stxbp3	UTSW	3	108,712,549 (GRCm39)	splice site	probably null
R4128:Stxbp3	UTSW	3	108,702,147 (GRCm39)	missense	probably benign	0.03
R5106:Stxbp3	UTSW	3	108,702,243 (GRCm39)	missense	probably benign	0.01
R5307:Stxbp3	UTSW	3	108,701,114 (GRCm39)	missense	probably damaging	1.00
R6643:Stxbp3	UTSW	3	108,701,150 (GRCm39)	missense	probably damaging	1.00
R6722:Stxbp3	UTSW	3	108,723,762 (GRCm39)	missense	probably benign	0.03
R6725:Stxbp3	UTSW	3	108,734,916 (GRCm39)	missense	possibly damaging	0.47
R7110:Stxbp3	UTSW	3	108,723,649 (GRCm39)	missense	probably damaging	1.00
R7135:Stxbp3	UTSW	3	108,708,071 (GRCm39)	missense	probably damaging	1.00
R7231:Stxbp3	UTSW	3	108,708,125 (GRCm39)	missense	probably damaging	1.00
R7769:Stxbp3	UTSW	3	108,708,144 (GRCm39)	missense	probably benign
R8688:Stxbp3	UTSW	3	108,709,425 (GRCm39)	critical splice donor site	probably benign
R9048:Stxbp3	UTSW	3	108,723,704 (GRCm39)	missense	probably benign	0.33
R9503:Stxbp3	UTSW	3	108,710,911 (GRCm39)	missense	probably damaging	1.00
R9523:Stxbp3	UTSW	3	108,747,756 (GRCm39)	missense	probably damaging	1.00
X0020:Stxbp3	UTSW	3	108,701,163 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGCTGAGTGATCTTAGAGC -3'
(R):5'- GCTCAGGTCCACATGACTTTC -3'

Sequencing Primer
(F):5'- ACTTTAATGCAGTCTTGGGACC -3'
(R):5'- AGGTCCACATGACTTTCTCTCC -3'

Posted On

2017-12-01