Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03410:Stxbp3'

421746

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stxbp3

Ensembl Gene

ENSMUSG00000027882

Gene Name

syntaxin binding protein 3

Synonyms

Stxbp3, Stxbp3a, Munc-18c

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03410

Quality Score

Status

Chromosome

Chromosomal Location

108700496-108747818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108709476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 354 (C354Y)

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: C354Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: C354Y

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,220,728 (GRCm39)	V409E	probably damaging	Het
1700086D15Rik	A	G	11: 65,043,393 (GRCm39)		probably benign	Het
Apba1	A	G	19: 23,914,945 (GRCm39)	N715S	possibly damaging	Het
Arfgef3	G	T	10: 18,476,238 (GRCm39)	A1527D	probably damaging	Het
Cmtm2a	G	T	8: 105,010,501 (GRCm39)	P133T	probably damaging	Het
Cyp2d9	T	C	15: 82,340,900 (GRCm39)	V483A	probably benign	Het
Dclre1b	T	A	3: 103,715,456 (GRCm39)	D14V	probably damaging	Het
Dock5	T	C	14: 68,083,535 (GRCm39)	I125V	probably benign	Het
Dok3	G	T	13: 55,672,044 (GRCm39)	Y211*	probably null	Het
Fat4	T	C	3: 38,945,325 (GRCm39)	V1406A	probably damaging	Het
Fbn2	A	G	18: 58,183,315 (GRCm39)	F1790S	possibly damaging	Het
Gm4787	A	T	12: 81,425,948 (GRCm39)	M70K	probably damaging	Het
Gulp1	A	T	1: 44,747,777 (GRCm39)	D10V	probably damaging	Het
Hagh	T	C	17: 25,079,916 (GRCm39)		probably benign	Het
Htt	A	G	5: 34,956,789 (GRCm39)	E206G	probably damaging	Het
Hyou1	A	G	9: 44,299,355 (GRCm39)	E682G	probably benign	Het
Ift56	T	C	6: 38,362,435 (GRCm39)	L70P	probably damaging	Het
Igkv4-59	G	T	6: 69,415,450 (GRCm39)	A35E	probably damaging	Het
Krt78	A	G	15: 101,862,421 (GRCm39)	V80A	probably damaging	Het
Lars2	G	A	9: 123,247,841 (GRCm39)	A333T	possibly damaging	Het
Lrrc4	G	A	6: 28,830,515 (GRCm39)	R367W	probably damaging	Het
Med1	A	T	11: 98,080,009 (GRCm39)	M44K	possibly damaging	Het
Mep1a	T	A	17: 43,788,986 (GRCm39)		probably null	Het
Mmrn1	A	G	6: 60,952,819 (GRCm39)	I367V	probably benign	Het
Myo18a	T	C	11: 77,738,830 (GRCm39)	L1677P	probably damaging	Het
Neb	T	C	2: 52,209,717 (GRCm39)	T246A	probably benign	Het
Nkiras1	A	G	14: 18,280,073 (GRCm38)	R155G	probably benign	Het
Nrip1	T	C	16: 76,089,379 (GRCm39)	N726S	probably benign	Het
Nyap2	A	G	1: 81,219,156 (GRCm39)	T393A	possibly damaging	Het
Oprm1	A	T	10: 6,780,051 (GRCm39)	I238F	probably damaging	Het
Or4b1b	A	G	2: 90,112,557 (GRCm39)	Y121H	probably damaging	Het
Or4b1d	G	A	2: 89,969,489 (GRCm39)		probably benign	Het
Or5m11b	T	A	2: 85,805,764 (GRCm39)	M59K	probably damaging	Het
Pcnx2	T	A	8: 126,613,779 (GRCm39)	E557D	probably damaging	Het
Pole	A	G	5: 110,472,425 (GRCm39)	I1563V	probably benign	Het
Pramel21	C	A	4: 143,341,851 (GRCm39)	H93Q	probably benign	Het
Prdx3	T	G	19: 60,859,848 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,669,501 (GRCm39)	R295K	probably null	Het
Rhbdl2	T	A	4: 123,723,463 (GRCm39)	L289*	probably null	Het
Rnps1	A	G	17: 24,640,835 (GRCm39)		probably benign	Het
Rpgrip1	A	G	14: 52,395,823 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,603,033 (GRCm39)	Y4518N	probably damaging	Het
Scyl3	A	G	1: 163,772,436 (GRCm39)	N296S	probably damaging	Het
Sipa1l3	G	A	7: 29,047,964 (GRCm39)	T1308M	probably damaging	Het
Slc39a9	A	G	12: 80,691,662 (GRCm39)	D3G	probably damaging	Het
Slc4a9	A	G	18: 36,662,740 (GRCm39)	E165G	probably benign	Het
Slc6a3	A	T	13: 73,686,776 (GRCm39)	I48F	probably benign	Het
Terb1	C	A	8: 105,199,674 (GRCm39)		probably benign	Het
Tfrc	G	A	16: 32,443,649 (GRCm39)		probably null	Het
Toporsl	A	C	4: 52,611,134 (GRCm39)	R342S	probably benign	Het
Ube2d3	T	A	3: 135,170,978 (GRCm39)	W141R	probably damaging	Het
Vps13b	G	T	15: 35,910,486 (GRCm39)	V3417L	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
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
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

Posted On

2016-08-02