Mutagenetix > Incidental Mutation

Incidental Mutation 'R6493:Stx7'

522864

Institutional Source

Beutler Lab

Gene Symbol

Stx7

Ensembl Gene

ENSMUSG00000019998

Gene Name

syntaxin 7

Synonyms

MMRRC Submission

044625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6493 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24025182-24064859 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 24060969 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 null
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 null
Transcript: ENSMUST00000220041

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.3%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,184,704 (GRCm39)	H934L	probably benign	Het
Abcb1b	G	A	5: 8,874,698 (GRCm39)	D453N	probably damaging	Het
Ampd3	A	G	7: 110,395,018 (GRCm39)		probably null	Het
Axdnd1	A	T	1: 156,208,383 (GRCm39)	I485N	probably damaging	Het
Bscl2	A	G	19: 8,817,138 (GRCm39)	D22G	probably damaging	Het
Ccdc96	A	G	5: 36,643,596 (GRCm39)	E534G	probably damaging	Het
Cdc42bpg	G	T	19: 6,368,485 (GRCm39)	G1061V	probably damaging	Het
Cers3	T	C	7: 66,393,468 (GRCm39)	Y26H	probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Daxx	T	A	17: 34,131,345 (GRCm39)		probably null	Het
Egf	T	C	3: 129,512,737 (GRCm39)		probably benign	Het
Eps15	A	G	4: 109,226,145 (GRCm39)	D629G	probably damaging	Het
Fancm	G	A	12: 65,144,262 (GRCm39)	A575T	probably benign	Het
Fat4	G	A	3: 38,945,036 (GRCm39)	D1310N	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Grxcr2	G	A	18: 42,131,766 (GRCm39)	P101L	possibly damaging	Het
Hsd17b12	A	T	2: 93,874,228 (GRCm39)	I225N	probably damaging	Het
Kcnj8	T	C	6: 142,511,773 (GRCm39)	Y278C	probably damaging	Het
Lama3	G	A	18: 12,615,205 (GRCm39)		probably null	Het
Lax1	C	T	1: 133,607,530 (GRCm39)	D404N	probably benign	Het
Lipg	T	C	18: 75,081,095 (GRCm39)	K329E	probably damaging	Het
Lysmd2	T	G	9: 75,542,984 (GRCm39)	L197R	probably damaging	Het
Maneal	A	T	4: 124,750,964 (GRCm39)	I264N	probably damaging	Het
Myh4	A	G	11: 67,149,455 (GRCm39)	N1729S	probably benign	Het
Myl2	A	G	5: 122,244,791 (GRCm39)	N154D	possibly damaging	Het
Nlrp9c	T	A	7: 26,081,812 (GRCm39)	D638V	probably damaging	Het
Notch1	T	C	2: 26,362,110 (GRCm39)	H74R	unknown	Het
Olfml3	A	T	3: 103,643,523 (GRCm39)	V286D	possibly damaging	Het
Or14c46	T	G	7: 85,918,090 (GRCm39)	K302N	probably benign	Het
Or4b12	G	A	2: 90,096,052 (GRCm39)	H241Y	probably damaging	Het
Or51a25	G	T	7: 102,373,287 (GRCm39)	R137S	possibly damaging	Het
Or51f23c-ps1	A	G	7: 102,431,603 (GRCm39)	K307E	probably benign	Het
Or8k41	T	C	2: 86,313,565 (GRCm39)	I174V	possibly damaging	Het
Parn	A	C	16: 13,474,789 (GRCm39)	F127V	probably damaging	Het
Pcdhac2	T	C	18: 37,277,758 (GRCm39)	V246A	probably damaging	Het
Plin2	G	A	4: 86,580,224 (GRCm39)	T90I	possibly damaging	Het
Podxl	C	T	6: 31,501,981 (GRCm39)	C326Y	probably damaging	Het
Pramel46	A	G	5: 95,418,684 (GRCm39)	L104P	probably damaging	Het
Prl8a8	T	A	13: 27,691,335 (GRCm39)	K223*	probably null	Het
Ptprh	T	G	7: 4,583,989 (GRCm39)	E201A	possibly damaging	Het
Rtn1	A	C	12: 72,355,103 (GRCm39)	V281G	probably damaging	Het
Scaf8	T	C	17: 3,221,394 (GRCm39)	S294P	unknown	Het
Shroom3	C	A	5: 93,089,420 (GRCm39)	N723K	probably benign	Het
Spata22	T	C	11: 73,244,572 (GRCm39)	*312R	probably null	Het
Taar6	T	C	10: 23,861,021 (GRCm39)	D175G	probably benign	Het
Tbccd1	A	C	16: 22,641,216 (GRCm39)	L387R	probably damaging	Het
Tecpr1	T	C	5: 144,146,792 (GRCm39)	M525V	probably benign	Het
Tex10	A	T	4: 48,436,450 (GRCm39)	I756N	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Ttn	T	C	2: 76,572,341 (GRCm39)	E24438G	probably damaging	Het
Tut4	A	G	4: 108,384,002 (GRCm39)	K1053R	probably damaging	Het
Wdpcp	C	T	11: 21,661,631 (GRCm39)	T301I	possibly damaging	Het
Zbtb1	C	T	12: 76,433,247 (GRCm39)	T411I	probably benign	Het
Zzef1	G	A	11: 72,804,129 (GRCm39)	G2624R	probably benign	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
R0201:Stx7	UTSW	10	24,060,977 (GRCm39)	splice site	probably benign
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
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'- CTGTGTTGTGTCCAGGTAGAAC -3'
(R):5'- TCTGTGGATCACCCTGAGAAAAC -3'

Sequencing Primer
(F):5'- GTGTCTTTTCCTTAAATGTCTGCTG -3'
(R):5'- TGGATCACCCTGAGAAAACAGACTG -3'

Posted On

2018-06-06