Mutagenetix > Incidental Mutation

Incidental Mutation 'R6722:Stxbp3'

529621

Institutional Source

Beutler Lab

Gene Symbol

Stxbp3

Ensembl Gene

ENSMUSG00000027882

Gene Name

syntaxin binding protein 3

Synonyms

Stxbp3, Stxbp3a, Munc-18c

MMRRC Submission

044840-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6722 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108700496-108747818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108723762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 150 (Y150H)

Gene Model

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

AlphaFold

Q60770

Predicted Effect

probably benign
Transcript: ENSMUST00000102621
AA Change: Y158H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: Y158H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196679
AA Change: Y150H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.1052

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (52/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	G	12: 81,468,228 (GRCm39)	D131A	probably damaging	Het
Ank3	T	C	10: 69,826,074 (GRCm39)		probably benign	Het
Atp1a4	T	C	1: 172,085,617 (GRCm39)		probably benign	Het
Bmal2	T	A	6: 146,720,398 (GRCm39)	D187E	probably damaging	Het
Castor2	T	C	5: 134,164,458 (GRCm39)	S140P	probably benign	Het
Ccdc162	T	C	10: 41,520,637 (GRCm39)	N673S	probably benign	Het
Cd84	G	A	1: 171,700,344 (GRCm39)	V154M	probably damaging	Het
Celsr1	C	A	15: 85,790,115 (GRCm39)		probably null	Het
Cfap57	A	C	4: 118,441,914 (GRCm39)	L718R	probably damaging	Het
Cntnap5b	G	A	1: 100,406,211 (GRCm39)	V803M	probably damaging	Het
Col6a2	C	T	10: 76,450,392 (GRCm39)	V180I	probably damaging	Het
Coq4	A	T	2: 29,678,297 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,012,983 (GRCm39)	T389A	probably benign	Het
Dennd1c	T	C	17: 57,373,802 (GRCm39)	D587G	probably benign	Het
Dnaja4	A	G	9: 54,607,038 (GRCm39)	D9G	probably damaging	Het
Hes2	T	G	4: 152,244,834 (GRCm39)	L101R	probably damaging	Het
Icam2	A	G	11: 106,273,307 (GRCm39)	S2P	probably damaging	Het
Krt31	A	G	11: 99,939,254 (GRCm39)	L221P	probably damaging	Het
Lipm	A	T	19: 34,098,665 (GRCm39)	N380Y	probably benign	Het
Lrp2bp	G	A	8: 46,473,600 (GRCm39)		probably null	Het
Mbd2	T	A	18: 70,713,819 (GRCm39)	M216K	probably damaging	Het
Mrps33	T	C	6: 39,782,599 (GRCm39)		probably benign	Het
Nbeal2	T	C	9: 110,462,060 (GRCm39)	D1459G	probably damaging	Het
Ncapd3	T	C	9: 26,998,852 (GRCm39)	S1281P	probably benign	Het
Nt5c1b	T	A	12: 10,422,874 (GRCm39)	Y56N	possibly damaging	Het
Nthl1	A	G	17: 24,853,008 (GRCm39)	K71E	probably benign	Het
Or4f62	T	A	2: 111,987,227 (GRCm39)	N310K	probably benign	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pde4a	G	A	9: 21,122,521 (GRCm39)	A806T	probably damaging	Het
Pde4d	C	A	13: 109,769,432 (GRCm39)	S40*	probably null	Het
Pde4dip	G	A	3: 97,625,555 (GRCm39)	R1348*	probably null	Het
Pdx1	C	T	5: 147,207,310 (GRCm39)	P88S	probably damaging	Het
Pnisr	T	A	4: 21,859,165 (GRCm39)	V120D	probably damaging	Het
Prss51	G	T	14: 64,332,508 (GRCm39)	C65F	probably damaging	Het
Pus10	G	A	11: 23,652,975 (GRCm39)	E195K	possibly damaging	Het
Pzp	T	A	6: 128,464,917 (GRCm39)	Q1319L	probably damaging	Het
Rbpms	G	T	8: 34,324,421 (GRCm39)	T101K	probably damaging	Het
Rundc3a	A	G	11: 102,290,775 (GRCm39)	N281S	possibly damaging	Het
Scml4	C	T	10: 42,736,728 (GRCm39)		probably benign	Het
Sez6	T	C	11: 77,844,528 (GRCm39)	V117A	probably damaging	Het
Sgsm2	A	C	11: 74,756,250 (GRCm39)	C366W	probably damaging	Het
Slc12a4	T	C	8: 106,670,882 (GRCm39)		probably null	Het
Smg5	C	T	3: 88,260,332 (GRCm39)	R641C	probably damaging	Het
Thoc2l	T	A	5: 104,668,145 (GRCm39)	M889K	probably damaging	Het
Tkt	T	C	14: 30,291,041 (GRCm39)	F351S	probably damaging	Het
Tln1	A	G	4: 43,547,618 (GRCm39)	L781P	probably damaging	Het
Triobp	G	A	15: 78,885,765 (GRCm39)	E1823K	probably damaging	Het
Ttll4	T	C	1: 74,720,948 (GRCm39)	V538A	possibly damaging	Het
Uba52rt	A	G	4: 3,973,386 (GRCm39)	Y59H	probably benign	Het
Vmn1r61	T	A	7: 5,613,687 (GRCm39)	N209I	possibly damaging	Het
Wdr75	T	A	1: 45,844,512 (GRCm39)		probably null	Het
Zfp985	T	C	4: 147,667,528 (GRCm39)	V132A	probably benign	Het
Zswim3	T	A	2: 164,662,544 (GRCm39)		probably null	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
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
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'- CTATGACCTGGAGCCTACACCTTAA -3'
(R):5'- GGGAGGCAGAGGAGAGATGA -3'

Sequencing Primer
(F):5'- TGCAGGGCATGGCAACTAC -3'
(R):5'- TGAAGGGAGTCAGGAGAGATCTG -3'

Posted On

2018-08-01