Mutagenetix > Incidental Mutation

Incidental Mutation 'R1218:Stx6'

99792

Institutional Source

Beutler Lab

Gene Symbol

Stx6

Ensembl Gene

ENSMUSG00000026470

Gene Name

syntaxin 6

Synonyms

2310039E05Rik, 2410005I16Rik

MMRRC Submission

039287-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R1218 (G1)

Quality Score

123

Status

Not validated

Chromosome

Chromosomal Location

155034374-155083405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155077737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 248 (V248A)

Ref Sequence

ENSEMBL: ENSMUSP00000027743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027743] [ENSMUST00000193059] [ENSMUST00000195302]

AlphaFold

Q9JKK1

Predicted Effect

probably benign
Transcript: ENSMUST00000027743
AA Change: V248A

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027743
Gene: ENSMUSG00000026470
AA Change: V248A

Domain	Start	End	E-Value	Type
Pfam:Syntaxin-6_N	5	103	1.9e-41	PFAM
t_SNARE	158	225	3.77e-15	SMART
transmembrane domain	235	254	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192690

Predicted Effect

probably benign
Transcript: ENSMUST00000193059

SMART Domains

Protein: ENSMUSP00000141976
Gene: ENSMUSG00000026470

Domain	Start	End	E-Value	Type
Pfam:Syntaxin-6_N	5	103	4.2e-32	PFAM
low complexity region	156	175	N/A	INTRINSIC
Blast:t_SNARE	176	199	5e-7	BLAST
PDB:2NPS\|D	176	199	4e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194158

Predicted Effect

probably benign
Transcript: ENSMUST00000195302

SMART Domains

Protein: ENSMUSP00000142089
Gene: ENSMUSG00000026470

Domain	Start	End	E-Value	Type
Pfam:Syntaxin-6_N	5	103	5.1e-35	PFAM
t_SNARE	158	225	3.77e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195693

Coding Region Coverage

1x: 99.2%
3x: 97.9%
10x: 93.3%
20x: 80.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	T	15: 81,948,353 (GRCm39)	T750I	probably benign	Het
5330417H12Rik	T	C	7: 107,224,024 (GRCm39)		probably benign	Het
9230109A22Rik	C	T	15: 25,139,024 (GRCm39)		noncoding transcript	Het
Ahnak	A	G	19: 8,992,983 (GRCm39)	K4756E	probably damaging	Het
Ano5	A	T	7: 51,220,169 (GRCm39)		probably null	Het
Bmp6	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	13: 38,530,226 (GRCm39)		probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cbfa2t2	A	T	2: 154,365,839 (GRCm39)	M350L	probably benign	Het
Ceacam20	A	T	7: 19,710,022 (GRCm39)	M349L	probably benign	Het
Cfap91	A	G	16: 38,118,495 (GRCm39)	V768A	probably benign	Het
Chd1	G	T	17: 15,945,574 (GRCm39)	G33C	probably damaging	Het
Dhx40	A	G	11: 86,690,310 (GRCm39)	V237A	probably benign	Het
Dlst	G	T	12: 85,170,638 (GRCm39)	D256Y	probably damaging	Het
Dmxl1	T	A	18: 50,026,678 (GRCm39)	S1929T	probably damaging	Het
Exosc10	T	A	4: 148,654,858 (GRCm39)	I551N	probably damaging	Het
Faap100	T	C	11: 120,269,166 (GRCm39)	D91G	probably benign	Het
Fbn1	T	G	2: 125,254,669 (GRCm39)	Q198P	possibly damaging	Het
Flrt2	A	G	12: 95,745,727 (GRCm39)	I22V	probably benign	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
H2bc3	A	G	13: 23,931,142 (GRCm39)	Y122C	probably benign	Het
Inava	A	T	1: 136,142,140 (GRCm39)	V653E	probably damaging	Het
Kcnn1	T	C	8: 71,305,332 (GRCm39)	I293V	probably benign	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Mcpt9	G	T	14: 56,266,125 (GRCm39)	Y34*	probably null	Het
Mepe	A	T	5: 104,474,939 (GRCm39)	M7L	probably benign	Het
Mprip	A	G	11: 59,634,640 (GRCm39)	Y383C	probably damaging	Het
Mtrex	G	A	13: 113,054,156 (GRCm39)	A159V	probably damaging	Het
Myh2	A	T	11: 67,083,351 (GRCm39)	D1438V	probably damaging	Het
Napb	T	C	2: 148,542,345 (GRCm39)	Y205C	probably damaging	Het
Odf2l	A	G	3: 144,854,693 (GRCm39)	D510G	probably damaging	Het
Olfml2b	A	G	1: 170,477,351 (GRCm39)	D162G	probably damaging	Het
Oscp1	T	C	4: 125,952,532 (GRCm39)	V20A	probably benign	Het
Pcdhb10	T	C	18: 37,546,214 (GRCm39)	L430P	probably damaging	Het
Polq	A	G	16: 36,849,808 (GRCm39)	D354G	possibly damaging	Het
Rims1	C	A	1: 22,522,256 (GRCm39)	V481F	probably damaging	Het
Ryr1	A	G	7: 28,785,534 (GRCm39)	I1719T	possibly damaging	Het
Smtn	T	C	11: 3,480,021 (GRCm39)	H400R	probably benign	Het
Snx33	A	G	9: 56,833,269 (GRCm39)	Y267H	probably damaging	Het
Sstr1	T	A	12: 58,260,406 (GRCm39)	M343K	possibly damaging	Het
Tbx5	C	T	5: 119,976,785 (GRCm39)	L58F	probably damaging	Het
Tmem241	A	G	18: 12,197,271 (GRCm39)	Y186H	probably damaging	Het
Tnfaip8l3	T	C	9: 53,934,760 (GRCm39)	K72E	probably damaging	Het
Trrap	T	A	5: 144,753,219 (GRCm39)	I1848N	probably damaging	Het
Xrcc6	G	A	15: 81,907,142 (GRCm39)	V155I	probably benign	Het
Zfp458	T	C	13: 67,404,273 (GRCm39)	E722G	probably damaging	Het
Zfyve1	G	T	12: 83,594,825 (GRCm39)	H722Q	possibly damaging	Het

Other mutations in Stx6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Stx6	APN	1	155,077,679 (GRCm39)	unclassified	probably benign
IGL01414:Stx6	APN	1	155,077,691 (GRCm39)	missense	possibly damaging	0.85
IGL02376:Stx6	APN	1	155,077,725 (GRCm39)	missense	probably benign	0.39
IGL02415:Stx6	APN	1	155,069,059 (GRCm39)	missense	possibly damaging	0.68
R0276:Stx6	UTSW	1	155,049,909 (GRCm39)	splice site	probably benign
R0709:Stx6	UTSW	1	155,069,040 (GRCm39)	missense	probably damaging	1.00
R1484:Stx6	UTSW	1	155,053,650 (GRCm39)	missense	probably benign	0.05
R2366:Stx6	UTSW	1	155,077,706 (GRCm39)	missense	probably benign	0.39
R2389:Stx6	UTSW	1	155,073,164 (GRCm39)	missense	possibly damaging	0.96
R3125:Stx6	UTSW	1	155,034,654 (GRCm39)	missense	probably damaging	0.99
R4924:Stx6	UTSW	1	155,049,737 (GRCm39)	missense	probably damaging	1.00
R5642:Stx6	UTSW	1	155,073,925 (GRCm39)	missense	probably benign	0.00
R7369:Stx6	UTSW	1	155,073,130 (GRCm39)	nonsense	probably null
R8222:Stx6	UTSW	1	155,073,889 (GRCm39)	missense	possibly damaging	0.94
R9214:Stx6	UTSW	1	155,067,210 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAAGTGTAGCCCCAAGGCAGAAC -3'
(R):5'- TCTCAAAGCTGGAGTCACAGAGGAG -3'

Sequencing Primer
(F):5'- GGGATCTGCTCTGCTCTGC -3'
(R):5'- TCACAGAGGAGGCGGGG -3'

Posted On

2014-01-15