Mutagenetix > Incidental Mutation

Incidental Mutation 'R4864:Stx3'

374794

Institutional Source

Beutler Lab

Gene Symbol

Stx3

Ensembl Gene

ENSMUSG00000041488

Gene Name

syntaxin 3

Synonyms

syntaxin 3A, Syn-3, syntaxin 3B

MMRRC Submission

042474-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11752482-11796767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11754515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 269 (I269N)

Ref Sequence

ENSEMBL: ENSMUSP00000074776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047698] [ENSMUST00000069285] [ENSMUST00000075304] [ENSMUST00000167199] [ENSMUST00000211047] [ENSMUST00000211641]

AlphaFold

Q64704

Predicted Effect

probably benign
Transcript: ENSMUST00000047698

SMART Domains

Protein: ENSMUSP00000037317
Gene: ENSMUSG00000041488

Domain	Start	End	E-Value	Type
SynN	27	146	5.39e-41	SMART
t_SNARE	186	253	1.07e-19	SMART
transmembrane domain	265	286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069285

SMART Domains

Protein: ENSMUSP00000069529
Gene: ENSMUSG00000041488

Domain	Start	End	E-Value	Type
SynN	27	146	5.39e-41	SMART
t_SNARE	186	253	6.87e-18	SMART
transmembrane domain	264	286	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075304
AA Change: I269N

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074776
Gene: ENSMUSG00000041488
AA Change: I269N

Domain	Start	End	E-Value	Type
SynN	27	128	1.13e-16	SMART
t_SNARE	168	235	1.07e-19	SMART
transmembrane domain	247	268	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167199

SMART Domains

Protein: ENSMUSP00000128915
Gene: ENSMUSG00000024683

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L16	59	190	2.7e-30	PFAM
low complexity region	200	211	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211047

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211089

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211641
AA Change: I251N

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.0793

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Acp6	T	C	3: 97,066,683 (GRCm39)		probably null	Het
Adora3	T	A	3: 105,815,131 (GRCm39)	Y148N	probably damaging	Het
Ahnak2	G	A	12: 112,740,040 (GRCm39)	S538L	probably damaging	Het
Aox3	T	G	1: 58,215,646 (GRCm39)	V1026G	probably damaging	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,548,612 (GRCm39)		probably null	Het
Arhgef37	G	A	18: 61,627,996 (GRCm39)	A649V	probably benign	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Bace1	A	T	9: 45,766,109 (GRCm39)	I179F	probably damaging	Het
Brinp1	A	G	4: 68,717,123 (GRCm39)	F242L	probably damaging	Het
Brk1	T	C	6: 113,592,805 (GRCm39)	Y63H	possibly damaging	Het
Ccdc74a	A	G	16: 17,466,736 (GRCm39)	T148A	probably benign	Het
Cenpc1	T	A	5: 86,193,180 (GRCm39)	L236F	probably damaging	Het
Col13a1	C	T	10: 61,698,439 (GRCm39)	E541K	unknown	Het
Copg1	T	A	6: 87,866,678 (GRCm39)	C44S	probably damaging	Het
D130043K22Rik	A	G	13: 25,047,595 (GRCm39)	E380G	probably damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dgkd	A	T	1: 87,844,560 (GRCm39)	N242I	possibly damaging	Het
Dnah2	C	T	11: 69,313,416 (GRCm39)	V4248I	probably damaging	Het
Dpy19l3	T	A	7: 35,411,607 (GRCm39)	K376*	probably null	Het
Eef1d	A	G	15: 75,775,255 (GRCm39)	S135P	possibly damaging	Het
Epc2	T	A	2: 49,427,177 (GRCm39)	S574T	probably benign	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,455,967 (GRCm39)		probably benign	Het
Exoc5	A	T	14: 49,289,839 (GRCm39)	V13E	probably benign	Het
Fbn1	A	T	2: 125,214,317 (GRCm39)	C765S	possibly damaging	Het
Fbxo5	A	T	10: 5,752,392 (GRCm39)	C74S	probably benign	Het
Fbxw9	T	C	8: 85,792,530 (GRCm39)	S322P	probably damaging	Het
Fmo5	T	A	3: 97,553,195 (GRCm39)	I381N	probably damaging	Het
Fmo6	T	C	1: 162,751,964 (GRCm39)	D175G	probably benign	Het
Gm7361	A	G	5: 26,467,008 (GRCm39)		probably null	Het
Gm9961	G	A	16: 11,720,899 (GRCm39)		probably benign	Het
Golga7b	T	A	19: 42,255,405 (GRCm39)		probably null	Het
Gorab	T	C	1: 163,213,967 (GRCm39)	E321G	probably benign	Het
Gpx1	T	A	9: 108,216,594 (GRCm39)	V28E	probably benign	Het
H2-T15	T	A	17: 36,369,253 (GRCm39)		probably benign	Het
H3c14	T	C	3: 96,154,575 (GRCm39)	I125T	probably damaging	Het
Hk1	T	C	10: 62,178,318 (GRCm39)	S8G	probably benign	Het
Iqsec1	C	T	6: 90,641,038 (GRCm39)	R1026H	probably damaging	Het
Kdm4b	A	T	17: 56,660,091 (GRCm39)	Y86F	probably benign	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Lamb1	C	T	12: 31,371,005 (GRCm39)	T1400M	probably benign	Het
Lcor	G	T	19: 41,573,803 (GRCm39)	A853S	probably benign	Het
Lrriq3	T	A	3: 154,893,447 (GRCm39)	Y383N	possibly damaging	Het
Map3k21	T	C	8: 126,654,294 (GRCm39)	I371T	probably benign	Het
Mllt1	A	T	17: 57,212,819 (GRCm39)	F105I	probably damaging	Het
Nfatc2	A	G	2: 168,378,312 (GRCm39)	M451T	probably damaging	Het
Nfkbiz	A	C	16: 55,638,787 (GRCm39)	N224K	probably damaging	Het
Nlrp4d	A	G	7: 10,115,088 (GRCm39)	V531A	noncoding transcript	Het
Noc3l	A	G	19: 38,778,081 (GRCm39)	Y778H	probably benign	Het
Nup98	C	A	7: 101,802,403 (GRCm39)	A734S	possibly damaging	Het
Or2ag18	T	C	7: 106,405,171 (GRCm39)	Y166C	probably damaging	Het
Or4k2	T	A	14: 50,424,039 (GRCm39)	I212F	probably damaging	Het
Or9g20	A	G	2: 85,630,033 (GRCm39)	Y194H	probably damaging	Het
Or9r7	T	A	10: 129,962,756 (GRCm39)	R57*	probably null	Het
Pate4	A	T	9: 35,519,535 (GRCm39)	C52S	probably damaging	Het
Pecr	C	A	1: 72,316,490 (GRCm39)	A72S	probably benign	Het
Pomt1	A	G	2: 32,142,004 (GRCm39)	N578S	probably benign	Het
Ppm1a	T	C	12: 72,830,738 (GRCm39)	S88P	probably benign	Het
Ppm1l	T	A	3: 69,449,844 (GRCm39)		probably benign	Het
Prdm13	A	G	4: 21,685,543 (GRCm39)	S86P	unknown	Het
Prph2	T	C	17: 47,221,848 (GRCm39)	S76P	probably benign	Het
Sarnp	G	A	10: 128,669,212 (GRCm39)	R23H	probably damaging	Het
Septin1	T	C	7: 126,816,064 (GRCm39)		probably benign	Het
Serpini1	T	C	3: 75,520,481 (GRCm39)	I26T	probably benign	Het
Setdb2	A	G	14: 59,646,715 (GRCm39)	I616T	probably benign	Het
Slc2a10	T	C	2: 165,356,541 (GRCm39)	F67S	probably benign	Het
Slc38a6	T	A	12: 73,390,424 (GRCm39)		probably null	Het
Smg6	T	C	11: 74,820,988 (GRCm39)	S420P	possibly damaging	Het
Srp72	T	A	5: 77,132,009 (GRCm39)	H229Q	probably benign	Het
Ston2	A	G	12: 91,615,448 (GRCm39)	V320A	possibly damaging	Het
Tdg-ps	A	G	15: 82,400,843 (GRCm39)		noncoding transcript	Het
Tecpr1	T	A	5: 144,150,935 (GRCm39)	N291I	probably benign	Het
Tmem177	A	G	1: 119,838,553 (GRCm39)	V42A	probably benign	Het
Trim26	T	A	17: 37,168,886 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,196,980 (GRCm39)	S456P	probably benign	Het
Tubgcp6	T	C	15: 88,988,021 (GRCm39)	Y984C	probably benign	Het
Unc5cl	A	G	17: 48,766,872 (GRCm39)	E82G	possibly damaging	Het
Uncx	T	C	5: 139,529,875 (GRCm39)	S43P	probably damaging	Het
Vmn1r1	A	G	1: 181,985,332 (GRCm39)	V111A	probably benign	Het
Vmn1r168	A	G	7: 23,240,907 (GRCm39)	I255V	probably damaging	Het
Vwce	A	G	19: 10,628,000 (GRCm39)	T487A	probably benign	Het
Xaf1	A	G	11: 72,197,682 (GRCm39)		probably benign	Het
Zfp27	G	T	7: 29,594,261 (GRCm39)	P568Q	probably damaging	Het
Zfp382	A	T	7: 29,832,885 (GRCm39)	I179F	possibly damaging	Het

Other mutations in Stx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Stx3	APN	19	11,769,152 (GRCm39)	missense	probably damaging	0.99
IGL01578:Stx3	APN	19	11,763,969 (GRCm39)	missense	probably damaging	1.00
IGL02086:Stx3	APN	19	11,796,046 (GRCm39)	splice site	probably benign
IGL02487:Stx3	APN	19	11,760,469 (GRCm39)	missense	probably damaging	0.96
R0124:Stx3	UTSW	19	11,769,163 (GRCm39)	missense	possibly damaging	0.83
R0573:Stx3	UTSW	19	11,763,110 (GRCm39)	missense	probably damaging	1.00
R1739:Stx3	UTSW	19	11,762,887 (GRCm39)	missense	probably damaging	1.00
R2869:Stx3	UTSW	19	11,766,938 (GRCm39)	missense	probably damaging	0.99
R2869:Stx3	UTSW	19	11,766,938 (GRCm39)	missense	probably damaging	0.99
R2870:Stx3	UTSW	19	11,766,938 (GRCm39)	missense	probably damaging	0.99
R2870:Stx3	UTSW	19	11,766,938 (GRCm39)	missense	probably damaging	0.99
R2874:Stx3	UTSW	19	11,766,938 (GRCm39)	missense	probably damaging	0.99
R6156:Stx3	UTSW	19	11,780,874 (GRCm39)	missense	probably damaging	1.00
R7298:Stx3	UTSW	19	11,767,412 (GRCm39)	nonsense	probably null
R7443:Stx3	UTSW	19	11,769,208 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AATTCAGCTATTCCTATACCCAGCC -3'
(R):5'- AGGACACTCACATCATGGTCTG -3'

Sequencing Primer
(F):5'- GCTATTCCTATACCCAGCCCTCAC -3'
(R):5'- GTGTCTAACCTGGAAACATTCTC -3'

Posted On

2016-03-17