Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02376:Stx6'

291089

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 #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

155034374-155083405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155077725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 244 (V244D)

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: V244D

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

SMART Domains

Protein: ENSMUSP00000027743
Gene: ENSMUSG00000026470
AA Change: V244D

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,815,466 (GRCm39)		probably benign	Het
Adcy3	G	A	12: 4,251,031 (GRCm39)	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,236,544 (GRCm39)	V289A	probably benign	Het
Akr1d1	A	T	6: 37,507,220 (GRCm39)	D14V	probably damaging	Het
Ankrd12	T	C	17: 66,349,524 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,111,506 (GRCm39)	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,845,140 (GRCm39)	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,867,735 (GRCm39)	T444A	probably damaging	Het
Arr3	A	C	X: 99,658,281 (GRCm39)	K281Q	probably damaging	Het
Arrdc2	A	T	8: 71,291,623 (GRCm39)	I114N	probably benign	Het
Atg2b	A	T	12: 105,611,727 (GRCm39)	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,338,894 (GRCm39)	Y188S	probably benign	Het
Cbx6	C	A	15: 79,712,500 (GRCm39)	R309L	probably benign	Het
Cfap410	A	G	10: 77,820,388 (GRCm39)		probably benign	Het
Chrna9	T	C	5: 66,128,502 (GRCm39)	S237P	probably damaging	Het
Dapk1	G	A	13: 60,844,208 (GRCm39)	V76I	probably benign	Het
Elk4	T	A	1: 131,942,288 (GRCm39)	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287 (GRCm39)	T799P	probably damaging	Het
Exosc2	G	A	2: 31,569,887 (GRCm39)	V233M	possibly damaging	Het
Fam217b	A	G	2: 178,059,366 (GRCm39)	D3G	probably benign	Het
Farp1	T	A	14: 121,510,268 (GRCm39)	N755K	probably damaging	Het
Fer	A	G	17: 64,241,341 (GRCm39)	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,216,844 (GRCm39)	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300 (GRCm39)	I658S	probably damaging	Het
Gemin2	A	G	12: 59,068,506 (GRCm39)	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,268,168 (GRCm39)	Y875F	probably benign	Het
Hnrnpr	G	A	4: 136,046,766 (GRCm39)	G149D	probably damaging	Het
Krt74	A	C	15: 101,662,938 (GRCm39)		noncoding transcript	Het
Ltf	A	G	9: 110,858,692 (GRCm39)	D480G	probably benign	Het
Map1b	A	G	13: 99,572,103 (GRCm39)	L206P	probably damaging	Het
Meis1	T	C	11: 18,831,752 (GRCm39)	M429V	probably benign	Het
Myh4	C	A	11: 67,136,554 (GRCm39)	T444N	probably benign	Het
Nckap1l	A	T	15: 103,379,658 (GRCm39)	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,350,447 (GRCm39)	I646T	probably damaging	Het
Ndufv1	T	C	19: 4,057,823 (GRCm39)		probably null	Het
Ogdhl	T	C	14: 32,065,275 (GRCm39)	Y710H	probably damaging	Het
Or4c52	A	G	2: 89,845,804 (GRCm39)	I177V	probably benign	Het
Otud7b	A	G	3: 96,062,354 (GRCm39)	K531R	possibly damaging	Het
Pax3	T	C	1: 78,108,929 (GRCm39)	Y243C	probably damaging	Het
Pde1a	A	G	2: 79,705,567 (GRCm39)		probably benign	Het
Pik3cb	C	T	9: 98,934,405 (GRCm39)	M813I	probably benign	Het
Prss42	A	T	9: 110,632,175 (GRCm39)	D302V	possibly damaging	Het
Rad52	T	C	6: 119,892,191 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,285,789 (GRCm39)	Y393*	probably null	Het
Rhbdd3	T	C	11: 5,053,192 (GRCm39)		probably benign	Het
Sbf2	C	T	7: 110,062,163 (GRCm39)	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,870,060 (GRCm39)		probably null	Het
Smg9	A	G	7: 24,114,455 (GRCm39)	I265V	probably benign	Het
Sppl2b	G	T	10: 80,703,432 (GRCm39)	E565*	probably null	Het
Tle4	T	C	19: 14,571,768 (GRCm39)	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,414,429 (GRCm39)	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,066,295 (GRCm39)	T220I	possibly damaging	Het
Ttn	A	T	2: 76,557,811 (GRCm39)	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,799,981 (GRCm39)	M281L	probably benign	Het
Zfp595	T	C	13: 67,464,514 (GRCm39)	K586R	possibly damaging	Het
Zfta	C	T	19: 7,399,741 (GRCm39)	P496L	probably 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
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
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