Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Stx7'

23649

Institutional Source

Beutler Lab

Gene Symbol

Stx7

Ensembl Gene

ENSMUSG00000019998

Gene Name

syntaxin 7

Synonyms

MMRRC Submission

038458-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24025182-24064859 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 24060977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020174] [ENSMUST00000220041]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020174

SMART Domains

Protein: ENSMUSP00000020174
Gene: ENSMUSG00000019998

Domain	Start	End	E-Value	Type
SynN	3	116	2.66e-31	SMART
t_SNARE	160	227	2.39e-17	SMART
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220041

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the ordered fusion of endosomes and lysosomes with the phagosome. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,819,406 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,927,763 (GRCm39)	Q492L	possibly damaging	Het
Aplnr	A	G	2: 84,967,521 (GRCm39)	D182G	probably damaging	Het
Arnt2	G	T	7: 84,010,867 (GRCm39)	S3*	probably null	Het
Asxl3	T	C	18: 22,656,211 (GRCm39)	V1407A	probably benign	Het
Atg13	A	T	2: 91,515,107 (GRCm39)		probably null	Het
Atm	A	T	9: 53,365,579 (GRCm39)		probably benign	Het
Birc6	T	G	17: 74,916,322 (GRCm39)	V1746G	possibly damaging	Het
Cbln1	G	T	8: 88,198,741 (GRCm39)	T43K	probably benign	Het
Cbx5	T	C	15: 103,108,127 (GRCm39)	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,894,854 (GRCm39)	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 26,008,210 (GRCm39)		probably benign	Het
Cd2bp2	A	G	7: 126,793,000 (GRCm39)	Y341H	probably damaging	Het
Cdhr5	T	A	7: 140,856,291 (GRCm39)	D88V	probably damaging	Het
Ces1f	T	A	8: 93,993,957 (GRCm39)	T275S	probably null	Het
Cimip4	T	A	15: 78,263,028 (GRCm39)	M209L	probably damaging	Het
Clca4a	T	C	3: 144,666,478 (GRCm39)	N458S	probably benign	Het
Cog5	A	G	12: 31,889,840 (GRCm39)	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,214,006 (GRCm39)	T305S	probably benign	Het
Csmd3	T	A	15: 47,483,125 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,313 (GRCm39)	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,773,809 (GRCm39)	N195K	probably damaging	Het
Ddx1	A	G	12: 13,273,809 (GRCm39)	V606A	probably damaging	Het
Dip2b	G	A	15: 100,084,028 (GRCm39)	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Enpp1	T	A	10: 24,529,815 (GRCm39)	T608S	probably benign	Het
Fancm	T	C	12: 65,148,406 (GRCm39)	Y674H	probably damaging	Het
Fat4	T	A	3: 38,945,745 (GRCm39)	V1546D	probably damaging	Het
Fsd1	G	A	17: 56,297,522 (GRCm39)	A158T	probably benign	Het
Fzd2	T	A	11: 102,496,948 (GRCm39)	M464K	probably damaging	Het
Gjc2	A	G	11: 59,068,416 (GRCm39)	F22S	possibly damaging	Het
Gria2	T	C	3: 80,615,145 (GRCm39)	Y445C	probably damaging	Het
Hsdl1	T	A	8: 120,292,995 (GRCm39)	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,451,273 (GRCm39)	Y226C	probably damaging	Het
Il16	A	G	7: 83,371,516 (GRCm39)	C97R	probably damaging	Het
Impg1	A	T	9: 80,252,843 (GRCm39)	S369T	probably damaging	Het
Jmjd1c	A	G	10: 67,054,888 (GRCm39)	T390A	unknown	Het
Lgi1	A	G	19: 38,289,741 (GRCm39)	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,427,860 (GRCm39)	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,808,547 (GRCm39)		probably benign	Het
Man1c1	A	T	4: 134,367,709 (GRCm39)		probably null	Het
Map1lc3b	A	C	8: 122,317,289 (GRCm39)	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,386,358 (GRCm39)	R124H	probably benign	Het
Mcu	A	G	10: 59,292,499 (GRCm39)	L60P	probably damaging	Het
Mrs2	G	T	13: 25,202,517 (GRCm39)	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Neb	G	A	2: 52,096,890 (GRCm39)		probably benign	Het
Nlrp2	C	T	7: 5,331,328 (GRCm39)	G356D	probably benign	Het
Notch3	A	G	17: 32,375,122 (GRCm39)		probably benign	Het
Npr2	A	C	4: 43,641,617 (GRCm39)	S474R	probably damaging	Het
Nup58	A	G	14: 60,482,065 (GRCm39)	F100L	probably benign	Het
Osbpl6	A	C	2: 76,376,386 (GRCm39)	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,908,360 (GRCm39)	M542L	probably benign	Het
Papln	A	G	12: 83,829,801 (GRCm39)		probably benign	Het
Parpbp	T	C	10: 87,928,758 (GRCm39)	I561V	possibly damaging	Het
Pcdhb13	C	T	18: 37,575,634 (GRCm39)	A4V	probably benign	Het
Pelp1	T	C	11: 70,286,530 (GRCm39)	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,019,497 (GRCm39)	M182L	probably benign	Het
Por	T	C	5: 135,760,032 (GRCm39)	S240P	possibly damaging	Het
Pramel15	A	T	4: 144,103,843 (GRCm39)		probably benign	Het
Pramel28	T	C	4: 143,691,460 (GRCm39)	E421G	probably damaging	Het
Prss22	A	T	17: 24,215,275 (GRCm39)	V167D	probably damaging	Het
Prss37	A	C	6: 40,493,283 (GRCm39)	L61R	probably damaging	Het
Psmd1	C	T	1: 86,046,338 (GRCm39)	T702M	probably benign	Het
Pxdn	G	T	12: 30,052,430 (GRCm39)	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,281,315 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,510,767 (GRCm39)	V228A	probably damaging	Het
Rnf169	T	C	7: 99,575,210 (GRCm39)	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,332,745 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,379,670 (GRCm39)	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,029,717 (GRCm39)		probably benign	Het
Slc12a4	A	G	8: 106,671,982 (GRCm39)	V910A	possibly damaging	Het
Slc6a12	A	T	6: 121,332,331 (GRCm39)	I222F	probably benign	Het
Spty2d1	G	A	7: 46,647,649 (GRCm39)	R427*	probably null	Het
Ssc5d	A	G	7: 4,947,662 (GRCm39)	T1339A	probably benign	Het
Sspo	A	C	6: 48,432,686 (GRCm39)	E854A	possibly damaging	Het
Styk1	A	T	6: 131,278,693 (GRCm39)		probably benign	Het
Tmem163	T	G	1: 127,596,374 (GRCm39)		probably benign	Het
Tmppe	C	CT	9: 114,233,707 (GRCm39)		probably null	Het
Tmx2	A	G	2: 84,503,426 (GRCm39)	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174 (GRCm38)	L54P	probably damaging	Het
Trim62	A	T	4: 128,796,343 (GRCm39)	Y280F	probably benign	Het
Tssk4	A	T	14: 55,889,016 (GRCm39)	K181*	probably null	Het
Tssk4	A	T	14: 55,889,017 (GRCm39)	K181M	probably damaging	Het
Ubn1	A	G	16: 4,882,478 (GRCm39)	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het

Other mutations in Stx7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02959:Stx7	APN	10	24,031,247 (GRCm39)	missense	probably benign	0.05
IGL03133:Stx7	APN	10	24,060,936 (GRCm39)	missense	probably damaging	0.99
madison	UTSW	10	24,058,659 (GRCm39)	splice site	probably null
stones	UTSW	10	24,060,883 (GRCm39)	critical splice acceptor site	probably null
switch	UTSW	10	24,058,724 (GRCm39)	nonsense	probably null
teufel	UTSW	10	24,057,454 (GRCm39)	missense	possibly damaging	0.86
R0413:Stx7	UTSW	10	24,057,492 (GRCm39)	missense	probably damaging	0.99
R1624:Stx7	UTSW	10	24,060,903 (GRCm39)	missense	probably damaging	1.00
R3980:Stx7	UTSW	10	24,060,947 (GRCm39)	missense	probably damaging	0.99
R5874:Stx7	UTSW	10	24,058,659 (GRCm39)	splice site	probably null
R6114:Stx7	UTSW	10	24,060,883 (GRCm39)	critical splice acceptor site	probably null
R6493:Stx7	UTSW	10	24,060,969 (GRCm39)	critical splice donor site	probably null
R8320:Stx7	UTSW	10	24,055,046 (GRCm39)	missense	probably damaging	0.98
R8560:Stx7	UTSW	10	24,057,454 (GRCm39)	missense	possibly damaging	0.86
R9098:Stx7	UTSW	10	24,058,724 (GRCm39)	nonsense	probably null
R9792:Stx7	UTSW	10	24,057,475 (GRCm39)	missense	probably damaging	1.00
R9795:Stx7	UTSW	10	24,057,475 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGACTGTGTTGTGTCCAGGTAG -3'
(R):5'- CCCTGAGAAAACAGACTGACTGGC -3'

Sequencing Primer
(F):5'- CCTTAAATGTCTGCTGCATGAAG -3'
(R):5'- ACAGACTGACTGGCAGTTC -3'

Posted On

2013-04-16