Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02415:Stx6'

292385

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stx6

Ensembl Gene

ENSMUSG00000026470

Gene Name

syntaxin 6

Synonyms

2310039E05Rik, 2410005I16Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

155034374-155083405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155069059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 195 (E195G)

Ref Sequence

ENSEMBL: ENSMUSP00000142089 (fasta)

Gene Model

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

AlphaFold

Q9JKK1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027743
AA Change: E195G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027743
Gene: ENSMUSG00000026470
AA Change: E195G

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

noncoding transcript
Transcript: ENSMUST00000192091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192519

Predicted Effect

unknown
Transcript: ENSMUST00000192690
AA Change: E49G

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193059
AA Change: E195G

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141976
Gene: ENSMUSG00000026470
AA Change: E195G

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

possibly damaging
Transcript: ENSMUST00000195302
AA Change: E195G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142089
Gene: ENSMUSG00000026470
AA Change: E195G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,777,056 (GRCm39)	D124G	probably benign	Het
Adamts13	T	A	2: 26,879,295 (GRCm39)	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,854,506 (GRCm39)		probably null	Het
Amy1	T	C	3: 113,357,234 (GRCm39)	I202V	probably benign	Het
Bdp1	G	A	13: 100,225,916 (GRCm39)	T322I	probably damaging	Het
Cep295	A	G	9: 15,264,316 (GRCm39)	L110S	probably damaging	Het
Cep72	T	C	13: 74,198,273 (GRCm39)	D369G	probably benign	Het
Chd3	A	T	11: 69,239,739 (GRCm39)		probably benign	Het
Ckmt2	G	A	13: 92,011,459 (GRCm39)		probably benign	Het
Cyp2s1	T	C	7: 25,507,562 (GRCm39)	T296A	probably damaging	Het
E2f5	T	A	3: 14,668,957 (GRCm39)	V283E	probably benign	Het
Eeig2	A	G	3: 108,887,608 (GRCm39)	Y219H	probably damaging	Het
F5	A	G	1: 164,019,498 (GRCm39)	T658A	probably damaging	Het
Gml	A	T	15: 74,688,289 (GRCm39)	Y59*	probably null	Het
Kmo	A	T	1: 175,476,889 (GRCm39)		probably benign	Het
Krt25	A	T	11: 99,213,398 (GRCm39)	I107N	probably damaging	Het
Llgl2	A	G	11: 115,744,111 (GRCm39)	M773V	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Med12	T	C	X: 100,325,396 (GRCm39)	V761A	probably damaging	Het
Mrpl19	T	C	6: 81,940,942 (GRCm39)	T150A	probably benign	Het
Muc2	G	T	7: 141,305,609 (GRCm39)	E646*	probably null	Het
Muc20	T	A	16: 32,615,051 (GRCm39)	T109S	unknown	Het
Nr2f6	T	C	8: 71,827,156 (GRCm39)	T382A	probably benign	Het
Nrap	A	G	19: 56,370,741 (GRCm39)	I172T	probably damaging	Het
Or5an1	A	G	19: 12,260,862 (GRCm39)	Y150C	probably benign	Het
Or8b47	T	C	9: 38,435,408 (GRCm39)	C127R	probably benign	Het
P3h1	A	T	4: 119,105,152 (GRCm39)	Q710L	probably benign	Het
Parvb	A	G	15: 84,177,016 (GRCm39)	H185R	probably damaging	Het
Pkhd1	A	G	1: 20,484,645 (GRCm39)	I1970T	probably damaging	Het
Pkhd1	T	C	1: 20,592,983 (GRCm39)	Y1710C	probably damaging	Het
Plxna2	C	A	1: 194,326,272 (GRCm39)	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,506,930 (GRCm39)	N284S	possibly damaging	Het
Reln	T	A	5: 22,176,949 (GRCm39)	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,311,798 (GRCm39)	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,804,239 (GRCm39)	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,260,172 (GRCm39)		probably null	Het
Sult2b1	G	T	7: 45,391,509 (GRCm39)	D90E	possibly damaging	Het
Taok1	A	G	11: 77,431,066 (GRCm39)		probably benign	Het
Tbx15	A	T	3: 99,259,826 (GRCm39)	M566L	probably benign	Het
Tcaf1	C	T	6: 42,663,584 (GRCm39)	A99T	probably benign	Het
Tcf20	T	A	15: 82,737,660 (GRCm39)	M1264L	probably benign	Het
Tenm4	G	A	7: 96,523,281 (GRCm39)	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,288,726 (GRCm39)		probably benign	Het
Ubr1	C	A	2: 120,801,084 (GRCm39)		probably benign	Het
Ulk1	T	C	5: 110,935,487 (GRCm39)	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,804,033 (GRCm39)	I181V	probably benign	Het
Vmn2r66	G	A	7: 84,656,020 (GRCm39)	T332I	probably damaging	Het
Wdr1	C	A	5: 38,688,453 (GRCm39)	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,371,539 (GRCm39)	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,565,150 (GRCm39)	E573K	probably benign	Het
Zfp334	G	T	2: 165,223,771 (GRCm39)	Q91K	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
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
R1218:Stx6	UTSW	1	155,077,737 (GRCm39)	missense	probably benign	0.39
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

Posted On

2015-04-16