Mutagenetix > Incidental Mutation

Incidental Mutation 'R7871:Stx5a'

608150

Institutional Source

Beutler Lab

Gene Symbol

Stx5a

Ensembl Gene

ENSMUSG00000010110

Gene Name

syntaxin 5A

Synonyms

syntaxin 5, 0610031F24Rik, D19Ertd627e

MMRRC Submission

045923-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7871 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8718788-8733006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8732482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 384 (W384R)

Ref Sequence

ENSEMBL: ENSMUSP00000010254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010241] [ENSMUST00000010254] [ENSMUST00000073430] [ENSMUST00000175872] [ENSMUST00000176013] [ENSMUST00000176381] [ENSMUST00000176968] [ENSMUST00000177322] [ENSMUST00000177373] [ENSMUST00000183939] [ENSMUST00000184756] [ENSMUST00000184970]

AlphaFold

Q8K1E0

Predicted Effect

probably benign
Transcript: ENSMUST00000010241

SMART Domains

Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097

Domain	Start	End	E-Value	Type
low complexity region	33	50	N/A	INTRINSIC
low complexity region	67	81	N/A	INTRINSIC
Pfam:Tap-RNA_bind	115	198	7.6e-42	PFAM
low complexity region	258	274	N/A	INTRINSIC
LRRcap	333	351	1.44e0	SMART
Pfam:NTF2	385	535	1.3e-29	PFAM
TAP_C	555	618	1.85e-33	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000010254
AA Change: W384R

SMART Domains

Protein: ENSMUSP00000010254
Gene: ENSMUSG00000010110
AA Change: W384R

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
Pfam:Syntaxin-5_N	52	74	1.5e-15	PFAM
SCOP:d1fioa_	92	298	7e-36	SMART
Blast:t_SNARE	258	304	9e-22	BLAST
low complexity region	346	376	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073430

SMART Domains

Protein: ENSMUSP00000073136
Gene: ENSMUSG00000010110

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
Pfam:Syntaxin	90	194	1e-15	PFAM
t_SNARE	258	325	4.33e-15	SMART
transmembrane domain	334	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175872

SMART Domains

Protein: ENSMUSP00000135416
Gene: ENSMUSG00000010110

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
Pfam:Syntaxin	90	194	2.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176013

SMART Domains

Protein: ENSMUSP00000135465
Gene: ENSMUSG00000010110

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
Pfam:Syntaxin	90	143	3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176381

SMART Domains

Protein: ENSMUSP00000134854
Gene: ENSMUSG00000010110

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
Pfam:Syntaxin	90	194	1e-15	PFAM
t_SNARE	258	325	4.33e-15	SMART
transmembrane domain	334	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176968

SMART Domains

Protein: ENSMUSP00000135468
Gene: ENSMUSG00000010110

Domain	Start	End	E-Value	Type
t_SNARE	12	79	4.33e-15	SMART
transmembrane domain	88	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177322

SMART Domains

Protein: ENSMUSP00000135624
Gene: ENSMUSG00000010110

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177373

SMART Domains

Protein: ENSMUSP00000134794
Gene: ENSMUSG00000010110

Domain	Start	End	E-Value	Type
Pfam:Syntaxin	1	98	5.2e-15	PFAM
t_SNARE	162	229	4.33e-15	SMART
transmembrane domain	238	257	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183939

SMART Domains

Protein: ENSMUSP00000139351
Gene: ENSMUSG00000010097

Domain	Start	End	E-Value	Type
Pfam:Tap-RNA_bind	1	63	5.7e-28	PFAM
low complexity region	122	138	N/A	INTRINSIC
Pfam:LRR_1	155	178	2.1e-2	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184756

SMART Domains

Protein: ENSMUSP00000139050
Gene: ENSMUSG00000010097

Domain	Start	End	E-Value	Type
low complexity region	33	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184970

SMART Domains

Protein: ENSMUSP00000139124
Gene: ENSMUSG00000010097

Domain	Start	End	E-Value	Type
low complexity region	33	50	N/A	INTRINSIC
low complexity region	67	81	N/A	INTRINSIC
Pfam:Tap-RNA_bind	112	199	2.4e-45	PFAM
low complexity region	258	274	N/A	INTRINSIC
Pfam:LRR_1	291	314	3.2e-2	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for v-SNAREs (vesicle-SNAP receptors), permitting specific synaptic vesicle docking and fusion. The encoded protein regulates endoplasmic reticulum to Golgi transport and plays a critical role in autophagy. Autoantibodies targeting the encoded protein may be a diagnostic marker for endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,331,092 (GRCm39)	S1041P	probably benign	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,361,864 (GRCm39)		probably null	Het
Arpin	A	T	7: 79,577,463 (GRCm39)	W195R	probably damaging	Het
Asap1	A	G	15: 63,963,925 (GRCm39)	V1091A	probably damaging	Het
Asxl3	A	G	18: 22,657,281 (GRCm39)	T1764A	not run	Het
Bmp7	C	A	2: 172,781,784 (GRCm39)	A27S	probably benign	Het
Ccnh	T	A	13: 85,359,991 (GRCm39)	Y297*	probably null	Het
Ccno	C	A	13: 113,124,647 (GRCm39)	D72E	probably benign	Het
Cd70	T	G	17: 57,455,770 (GRCm39)	T67P	probably damaging	Het
Chml	CTGTTTG	CTG	1: 175,514,966 (GRCm39)		probably null	Het
Chst4	A	G	8: 110,757,545 (GRCm39)	F106S	probably damaging	Het
Cntnap3	A	C	13: 65,051,587 (GRCm39)	L23R	probably benign	Het
Crybg2	T	A	4: 133,814,910 (GRCm39)	L1288H	probably damaging	Het
Cse1l	T	A	2: 166,777,591 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,133,177 (GRCm39)	H841R	probably damaging	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp4f18	G	A	8: 72,742,487 (GRCm39)	P498S	possibly damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dnah3	T	A	7: 119,566,775 (GRCm39)	I97F		Het
Entpd3	A	G	9: 120,389,652 (GRCm39)	R313G	possibly damaging	Het
Erg28	G	A	12: 85,866,253 (GRCm39)	T75I	probably damaging	Het
Fam171a1	A	G	2: 3,226,421 (GRCm39)	H518R	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Galntl6	T	C	8: 58,290,222 (GRCm39)	E457G	probably damaging	Het
Glt8d1	A	T	14: 30,732,296 (GRCm39)	H192L	probably damaging	Het
Gm15446	T	A	5: 110,091,165 (GRCm39)	C472*	probably null	Het
Gm28363	A	T	1: 117,625,228 (GRCm39)	M1L	unknown	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gstp3	T	A	19: 4,108,746 (GRCm39)	K45*	probably null	Het
Hsd17b13	A	G	5: 104,113,681 (GRCm39)	F258L	possibly damaging	Het
Htt	T	C	5: 35,021,993 (GRCm39)	S1646P	probably benign	Het
Ipo11	T	C	13: 107,028,976 (GRCm39)	M326V	probably benign	Het
Itpr3	T	A	17: 27,336,153 (GRCm39)	I2293N	probably damaging	Het
Klk1b8	A	G	7: 43,448,750 (GRCm39)		probably null	Het
Kntc1	T	A	5: 123,922,290 (GRCm39)	L963H	probably damaging	Het
Lyst	T	A	13: 13,810,637 (GRCm39)	L769*	probably null	Het
Map3k13	A	G	16: 21,740,346 (GRCm39)	S558G	probably benign	Het
Mbd1	G	A	18: 74,407,128 (GRCm39)		probably null	Het
Mep1a	T	C	17: 43,790,126 (GRCm39)	N408D	probably benign	Het
Mtrf1	A	G	14: 79,644,378 (GRCm39)	T229A	probably benign	Het
Muc4	C	T	16: 32,754,935 (GRCm38)	S1603L	unknown	Het
Myo1b	A	C	1: 51,818,739 (GRCm39)	I512S	possibly damaging	Het
N4bp2	A	G	5: 65,964,446 (GRCm39)	I832V	probably benign	Het
Nadsyn1	T	A	7: 143,352,233 (GRCm39)	K618*	probably null	Het
Ncstn	T	C	1: 171,903,023 (GRCm39)	D87G	probably benign	Het
Neurl4	T	C	11: 69,794,012 (GRCm39)	V156A	probably benign	Het
Nfasc	C	A	1: 132,527,751 (GRCm39)	G885V	not run	Het
Nox4	A	T	7: 86,963,335 (GRCm39)	Y180F	possibly damaging	Het
Nuggc	A	G	14: 65,860,700 (GRCm39)	T449A	probably benign	Het
Or6c209	A	G	10: 129,483,281 (GRCm39)	I95V	probably benign	Het
Pik3r4	T	C	9: 105,540,316 (GRCm39)	S735P	probably damaging	Het
Ppp1r9b	T	C	11: 94,892,735 (GRCm39)	I645T	probably damaging	Het
Rras2	G	A	7: 113,716,783 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,962,822 (GRCm39)	M25T	probably damaging	Het
Serpinb3c	T	A	1: 107,200,883 (GRCm39)	Y178F	possibly damaging	Het
Sh3bp2	A	G	5: 34,716,429 (GRCm39)	H280R	not run	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Skor1	T	C	9: 63,053,783 (GRCm39)	E62G	probably damaging	Het
Slc22a22	T	A	15: 57,126,751 (GRCm39)	N106I	possibly damaging	Het
Slc44a4	T	A	17: 35,142,828 (GRCm39)		probably null	Het
Sppl2c	A	G	11: 104,079,342 (GRCm39)		probably null	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Topaz1	A	G	9: 122,609,765 (GRCm39)	Y1111C	possibly damaging	Het
Ttbk1	T	A	17: 46,757,164 (GRCm39)	M1157L	probably benign	Het
Ttn	T	C	2: 76,578,489 (GRCm39)	T24135A	probably damaging	Het
Ttn	T	C	2: 76,795,481 (GRCm39)	E632G	unknown	Het
Ttn	T	C	2: 76,547,559 (GRCm39)	T32204A	probably benign	Het
Vmn2r109	T	C	17: 20,760,782 (GRCm39)	I858M	probably benign	Het
Vmn2r71	A	T	7: 85,272,869 (GRCm39)	Q561L	possibly damaging	Het
Yme1l1	A	G	2: 23,071,077 (GRCm39)	D271G	probably damaging	Het
Zfp629	A	G	7: 127,211,167 (GRCm39)	F214S	probably damaging	Het
Zfp709	A	G	8: 72,643,308 (GRCm39)	I246V	probably benign	Het

Other mutations in Stx5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03152:Stx5a	APN	19	8,727,138 (GRCm39)	critical splice donor site	probably null
R0541:Stx5a	UTSW	19	8,727,301 (GRCm39)	missense	probably damaging	1.00
R0726:Stx5a	UTSW	19	8,732,275 (GRCm39)	missense	probably damaging	1.00
R1566:Stx5a	UTSW	19	8,719,675 (GRCm39)	missense	probably damaging	0.99
R1990:Stx5a	UTSW	19	8,726,254 (GRCm39)	critical splice donor site	probably null
R2852:Stx5a	UTSW	19	8,732,476 (GRCm39)	unclassified	probably benign
R3022:Stx5a	UTSW	19	8,732,518 (GRCm39)	unclassified	probably benign
R4426:Stx5a	UTSW	19	8,727,104 (GRCm39)	missense	probably benign	0.02
R4684:Stx5a	UTSW	19	8,720,725 (GRCm39)	missense	probably damaging	0.96
R5594:Stx5a	UTSW	19	8,725,829 (GRCm39)	missense	probably damaging	1.00
R5750:Stx5a	UTSW	19	8,732,501 (GRCm39)	unclassified	probably benign
R5929:Stx5a	UTSW	19	8,719,675 (GRCm39)	missense	probably damaging	0.99
R6644:Stx5a	UTSW	19	8,732,612 (GRCm39)	unclassified	probably benign
R6983:Stx5a	UTSW	19	8,732,533 (GRCm39)	unclassified	probably benign
R7242:Stx5a	UTSW	19	8,732,641 (GRCm39)	missense	unknown
R7258:Stx5a	UTSW	19	8,732,271 (GRCm39)	critical splice acceptor site	probably null
R7464:Stx5a	UTSW	19	8,720,868 (GRCm39)	unclassified	probably benign
R7880:Stx5a	UTSW	19	8,719,692 (GRCm39)	missense	probably damaging	1.00
R7980:Stx5a	UTSW	19	8,719,802 (GRCm39)	missense	probably damaging	1.00
R8375:Stx5a	UTSW	19	8,732,462 (GRCm39)	missense	unknown
R8739:Stx5a	UTSW	19	8,725,924 (GRCm39)	missense	probably damaging	0.96
X0020:Stx5a	UTSW	19	8,726,254 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCTCCAGGATCGACGAGAATG -3'
(R):5'- TCTTCACAGCAGAGTCCAAATC -3'

Sequencing Primer
(F):5'- AATGTGCTTGGAGCCCAG -3'
(R):5'- CCAGAACCAGTGTGTTTCATG -3'

Posted On

2019-12-20