Mutagenetix > Incidental Mutation

Incidental Mutation 'R8320:Stx7'

641918

Institutional Source

Beutler Lab

Gene Symbol

Stx7

Ensembl Gene

ENSMUSG00000019998

Gene Name

syntaxin 7

Synonyms

MMRRC Submission

067722-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24025182-24064859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24055046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 63 (A63S)

Ref Sequence

ENSEMBL: ENSMUSP00000020174 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020174
AA Change: A63S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020174
Gene: ENSMUSG00000019998
AA Change: A63S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb10	A	G	5: 24,742,626 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Clec3a	T	C	8: 115,152,369 (GRCm39)	V125A	probably benign	Het
Clspn	A	G	4: 126,457,743 (GRCm39)	D258G	possibly damaging	Het
Cnn3	T	G	3: 121,243,635 (GRCm39)	L32R	probably damaging	Het
Cntnap5a	T	C	1: 116,374,466 (GRCm39)	F993L	possibly damaging	Het
Cobl	A	G	11: 12,217,001 (GRCm39)	S496P	probably damaging	Het
Dmxl2	A	G	9: 54,291,043 (GRCm39)	V2469A	probably benign	Het
Egfr	T	C	11: 16,841,251 (GRCm39)	F714S	probably damaging	Het
Erap1	G	C	13: 74,814,668 (GRCm39)	E465Q	probably benign	Het
Ercc6	T	C	14: 32,242,972 (GRCm39)	V204A	probably benign	Het
Fbln2	C	T	6: 91,234,749 (GRCm39)	T689I	possibly damaging	Het
Fbxw13	G	T	9: 109,012,134 (GRCm39)	T311K	probably benign	Het
Foxj2	T	A	6: 122,810,649 (GRCm39)	S210T	probably benign	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Grid2	T	C	6: 63,233,917 (GRCm39)	I26T	probably benign	Het
Gzmd	A	G	14: 56,367,190 (GRCm39)	I234T	probably benign	Het
Igkv2-137	GA	GAA	6: 67,533,154 (GRCm39)		probably null	Het
Kif26b	T	C	1: 178,711,641 (GRCm39)		probably null	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Klra10	A	G	6: 130,246,211 (GRCm39)	C255R	probably damaging	Het
Lgi4	T	C	7: 30,768,366 (GRCm39)	V455A	probably benign	Het
Mucl3	T	C	17: 35,954,530 (GRCm39)	T11A	probably benign	Het
Neb	C	A	2: 52,186,343 (GRCm39)	V910L	probably benign	Het
Pigg	G	A	5: 108,495,717 (GRCm39)	R918H	probably benign	Het
Poln	A	G	5: 34,307,171 (GRCm39)	V10A	possibly damaging	Het
Polr1a	T	A	6: 71,918,368 (GRCm39)	M642K	probably damaging	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rfc1	A	T	5: 65,460,379 (GRCm39)	Y167*	probably null	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Sars2	C	T	7: 28,446,293 (GRCm39)	T174I	probably damaging	Het
Septin4	T	C	11: 87,480,560 (GRCm39)	V398A	possibly damaging	Het
Slc6a2	C	T	8: 93,719,476 (GRCm39)	T397I	probably benign	Het
Smarca4	G	T	9: 21,588,798 (GRCm39)	R1200L	probably benign	Het
Sval3	G	A	6: 41,949,458 (GRCm39)	V99I	probably benign	Het
Syna	A	G	5: 134,588,574 (GRCm39)	I125T	possibly damaging	Het
Syne2	T	C	12: 76,150,604 (GRCm39)	S1827P	probably damaging	Het
Taf4b	T	C	18: 14,916,749 (GRCm39)	V33A	possibly damaging	Het
Tpcn2	C	T	7: 144,820,359 (GRCm39)	R373H	possibly damaging	Het
Trpm1	A	G	7: 63,918,541 (GRCm39)	D1511G	possibly damaging	Het
Ttc3	C	A	16: 94,219,535 (GRCm39)	R487S	probably damaging	Het
Tubb3	T	C	8: 124,147,594 (GRCm39)	S176P	possibly damaging	Het
Zfp189	C	G	4: 49,530,180 (GRCm39)	Q428E	probably benign	Het
Zscan4d	C	T	7: 10,799,942 (GRCm39)	V316M	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
R6493:Stx7	UTSW	10	24,060,969 (GRCm39)	critical splice donor site	probably null
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'- TGCAACCATTTACCAGGGTTG -3'
(R):5'- TGGAAGCACATGATACTACCTGAAC -3'

Sequencing Primer
(F):5'- CCAGGGTTGGTACAGGTGG -3'
(R):5'- CCCAGTTCAAAGATCCGA -3'

Posted On

2020-07-28