Mutagenetix > Incidental Mutation

Incidental Mutation 'R5307:Stxbp3'

404618

Institutional Source

Beutler Lab

Gene Symbol

Stxbp3

Ensembl Gene

ENSMUSG00000027882

Gene Name

syntaxin binding protein 3

Synonyms

Stxbp3, Stxbp3a, Munc-18c

MMRRC Submission

042890-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5307 (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 108701114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 585 (D585G)

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: D585G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: D585G

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,199,999 (GRCm39)	G531A	probably damaging	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ap3d1	T	C	10: 80,559,383 (GRCm39)	T264A	probably benign	Het
Arhgef17	C	G	7: 100,578,635 (GRCm39)	G771A	probably benign	Het
Atg2b	T	A	12: 105,624,588 (GRCm39)	D637V	probably benign	Het
Atp10b	A	G	11: 43,103,302 (GRCm39)	E562G	probably damaging	Het
Atp1a1	A	G	3: 101,497,280 (GRCm39)	V342A	probably damaging	Het
Atp2a2	A	G	5: 122,599,810 (GRCm39)	I527T	probably benign	Het
Atr	T	A	9: 95,760,597 (GRCm39)	N1022K	probably benign	Het
Bach2	T	A	4: 32,562,683 (GRCm39)	D383E	probably benign	Het
Casq1	A	T	1: 172,046,983 (GRCm39)	L92Q	probably damaging	Het
Chd1	T	A	17: 15,952,832 (GRCm39)	Y371N	probably damaging	Het
Chd9	G	A	8: 91,723,777 (GRCm39)	A617T	probably damaging	Het
Cntrob	T	A	11: 69,205,576 (GRCm39)	R419S	possibly damaging	Het
Corin	C	A	5: 72,514,321 (GRCm39)	G318C	probably damaging	Het
Cpa3	A	G	3: 20,281,327 (GRCm39)		probably null	Het
Cplane1	G	A	15: 8,290,174 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,879,710 (GRCm39)	S493G	probably benign	Het
Ddc	A	G	11: 11,826,321 (GRCm39)	F80S	probably damaging	Het
Dhrs2	A	G	14: 55,473,601 (GRCm39)	S87G	possibly damaging	Het
Dnah12	A	G	14: 26,414,641 (GRCm39)	E14G	possibly damaging	Het
Dtd1	A	G	2: 144,588,942 (GRCm39)	E200G	possibly damaging	Het
Dync2h1	T	C	9: 7,155,099 (GRCm39)	E895G	probably damaging	Het
Ehhadh	A	C	16: 21,581,442 (GRCm39)	S517A	probably benign	Het
Ephb2	C	A	4: 136,421,098 (GRCm39)	Q417H	possibly damaging	Het
Ephb4	A	G	5: 137,361,574 (GRCm39)	T526A	probably damaging	Het
Fam222b	G	A	11: 78,044,594 (GRCm39)	V52I	probably damaging	Het
Galm	G	A	17: 80,452,416 (GRCm39)	W118*	probably null	Het
Galm	G	T	17: 80,452,417 (GRCm39)	W118C	probably damaging	Het
Gcfc2	A	G	6: 81,921,367 (GRCm39)	N458D	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gykl1	A	C	18: 52,827,723 (GRCm39)	R310S	possibly damaging	Het
Gzmn	A	C	14: 56,405,403 (GRCm39)	V27G	probably damaging	Het
H2-T23	T	A	17: 36,343,108 (GRCm39)	M90L	probably benign	Het
Hnrnpu	T	C	1: 178,164,877 (GRCm39)	E87G	unknown	Het
Hps3	G	A	3: 20,066,865 (GRCm39)	S567L	possibly damaging	Het
Igfn1	A	T	1: 135,892,676 (GRCm39)	V2148E	probably damaging	Het
Ighv1-75	T	C	12: 115,797,572 (GRCm39)	R117G	probably damaging	Het
Itgae	C	T	11: 73,036,464 (GRCm39)	A1134V	probably benign	Het
Kmt2b	C	T	7: 30,281,098 (GRCm39)	A1294T	possibly damaging	Het
Leng8	C	T	7: 4,148,472 (GRCm39)	T748I	probably damaging	Het
Lrig3	G	C	10: 125,842,559 (GRCm39)	D495H	probably damaging	Het
Mctp1	G	A	13: 76,860,198 (GRCm39)		probably null	Het
Mfsd3	T	A	15: 76,586,371 (GRCm39)	L168*	probably null	Het
Nherf1	T	A	11: 115,054,587 (GRCm39)	I79N	probably damaging	Het
Nlrp4d	C	A	7: 10,096,709 (GRCm39)	G921*	probably null	Het
Nsun4	G	A	4: 115,891,335 (GRCm39)	T348I	probably damaging	Het
Nucb1	T	C	7: 45,147,842 (GRCm39)	T246A	probably damaging	Het
Nynrin	A	C	14: 56,101,263 (GRCm39)	S311R	probably damaging	Het
Or4k37	T	A	2: 111,158,741 (GRCm39)		probably null	Het
Or5ar1	T	G	2: 85,671,358 (GRCm39)	Y259S	probably damaging	Het
Ovch2	C	A	7: 107,391,341 (GRCm39)	R303L	probably benign	Het
Pcsk9	A	G	4: 106,304,371 (GRCm39)	S490P	probably damaging	Het
Pi4ka	A	G	16: 17,140,894 (GRCm39)	F859L	probably benign	Het
Pkd1l3	A	G	8: 110,367,424 (GRCm39)	D1207G	probably damaging	Het
Pnpla7	G	A	2: 24,911,964 (GRCm39)	R710Q	possibly damaging	Het
Prex2	T	G	1: 11,270,256 (GRCm39)	S1314A	probably damaging	Het
Rnf216	A	G	5: 143,078,757 (GRCm39)	L64P	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc6a20b	T	G	9: 123,432,899 (GRCm39)	S374R	possibly damaging	Het
Slc8a1	G	T	17: 81,956,653 (GRCm39)	N128K	probably damaging	Het
Slfn5	A	T	11: 82,847,211 (GRCm39)	D32V	probably damaging	Het
Snrnp35	T	C	5: 124,628,553 (GRCm39)	I122T	possibly damaging	Het
Snx24	C	T	18: 53,473,283 (GRCm39)	Q76*	probably null	Het
Sspo	T	A	6: 48,431,784 (GRCm39)	H692Q	probably damaging	Het
Svep1	T	C	4: 58,072,677 (GRCm39)	N2211D	possibly damaging	Het
Tnfrsf18	G	A	4: 156,112,881 (GRCm39)		probably null	Het
Tnik	T	G	3: 28,596,121 (GRCm39)	D171E	probably damaging	Het
Ttc23l	T	A	15: 10,533,745 (GRCm39)	H266L	probably damaging	Het
Ttn	G	T	2: 76,725,114 (GRCm39)	S2037*	probably null	Het
Tuba3a	G	A	6: 125,258,273 (GRCm39)	T239I	probably damaging	Het
Usp25	T	A	16: 76,890,594 (GRCm39)	D767E	probably benign	Het
Whrn	G	T	4: 63,350,080 (GRCm39)	H546N	probably benign	Het
Xirp2	C	T	2: 67,341,506 (GRCm39)	T1249I	probably damaging	Het
Zbtb1	T	A	12: 76,433,014 (GRCm39)	D333E	probably damaging	Het
Zfp689	T	G	7: 127,047,987 (GRCm39)	E15A	possibly damaging	Het
Zhx3	A	G	2: 160,621,788 (GRCm39)	M793T	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
R4683:Stxbp3	UTSW	3	108,708,188 (GRCm39)	missense	probably damaging	1.00
R5106:Stxbp3	UTSW	3	108,702,243 (GRCm39)	missense	probably benign	0.01
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'- AGATCTTGTACAAAGCAGCAACAG -3'
(R):5'- CTCAGTGACAAGGGTTGATGTG -3'

Sequencing Primer
(F):5'- CCATACACTATTTACACCGC -3'
(R):5'- GAATTTTGGAGACATGCTGTTAGAAG -3'

Posted On

2016-07-22