Mutagenetix > Incidental Mutation

Incidental Mutation 'R0726:Stx5a'

218887

Institutional Source

Beutler Lab

Gene Symbol

Stx5a

Ensembl Gene

ENSMUSG00000010110

Gene Name

syntaxin 5A

Synonyms

syntaxin 5, 0610031F24Rik, D19Ertd627e

MMRRC Submission

038908-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0726 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

8718788-8733006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8732275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 208 (I208N)

Ref Sequence

ENSEMBL: ENSMUSP00000134794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010241] [ENSMUST00000010254] [ENSMUST00000073430] [ENSMUST00000175872] [ENSMUST00000176013] [ENSMUST00000176381] [ENSMUST00000176968] [ENSMUST00000177373] [ENSMUST00000177322] [ENSMUST00000184970] [ENSMUST00000183939] [ENSMUST00000184756] [ENSMUST00000176570]

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

probably benign
Transcript: ENSMUST00000010254
AA Change: S315T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000010254
Gene: ENSMUSG00000010110
AA Change: S315T

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 damaging
Transcript: ENSMUST00000073430
AA Change: I304N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073136
Gene: ENSMUSG00000010110
AA Change: I304N

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

noncoding transcript
Transcript: ENSMUST00000176182

Predicted Effect

probably damaging
Transcript: ENSMUST00000176381
AA Change: I304N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134854
Gene: ENSMUSG00000010110
AA Change: I304N

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 damaging
Transcript: ENSMUST00000176968
AA Change: I58N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135468
Gene: ENSMUSG00000010110
AA Change: I58N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177373
AA Change: I208N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134794
Gene: ENSMUSG00000010110
AA Change: I208N

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

noncoding transcript
Transcript: ENSMUST00000176404

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

noncoding transcript
Transcript: ENSMUST00000183780

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

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: ENSMUST00000176570

SMART Domains

Protein: ENSMUSP00000134892
Gene: ENSMUSG00000010110

Domain	Start	End	E-Value	Type
Pfam:SNARE	22	57	2.9e-12	PFAM

Meta Mutation Damage Score

0.9271

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.1%
20x: 89.2%

Validation Efficiency

98% (90/92)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	A	G	7: 143,425,498 (GRCm39)	D49G	probably damaging	Het
Alg12	T	C	15: 88,690,850 (GRCm39)	Y256C	probably damaging	Het
Alox15	T	A	11: 70,241,021 (GRCm39)	D160V	probably damaging	Het
Aox1	T	C	1: 58,373,941 (GRCm39)		probably benign	Het
Bbs9	G	T	9: 22,705,119 (GRCm39)	A729S	probably damaging	Het
Bltp3a	T	C	17: 28,104,463 (GRCm39)	V503A	possibly damaging	Het
Bmp2k	T	A	5: 97,235,353 (GRCm39)		probably benign	Het
Braf	C	T	6: 39,639,082 (GRCm39)	R223Q	possibly damaging	Het
Cd101	A	T	3: 100,927,938 (GRCm39)	S48T	possibly damaging	Het
Cdh9	T	G	15: 16,831,130 (GRCm39)	D322E	probably benign	Het
Col28a1	C	T	6: 8,014,495 (GRCm39)		probably null	Het
Cpxm1	G	A	2: 130,232,859 (GRCm39)	R712W	probably damaging	Het
Csnk1g1	T	C	9: 65,939,637 (GRCm39)		probably benign	Het
Cyp2d37-ps	A	C	15: 82,574,650 (GRCm39)		noncoding transcript	Het
Cyth3	T	C	5: 143,678,397 (GRCm39)	V115A	probably benign	Het
Dnah9	C	T	11: 65,856,507 (GRCm39)	V2885M	probably damaging	Het
Dock9	G	T	14: 121,889,180 (GRCm39)	Y326*	probably null	Het
Espl1	T	C	15: 102,231,033 (GRCm39)	I1844T	probably benign	Het
Fam20a	T	A	11: 109,568,020 (GRCm39)	N357Y	probably damaging	Het
Fancc	C	A	13: 63,471,225 (GRCm39)	R385L	probably benign	Het
Foxe3	A	T	4: 114,782,447 (GRCm39)	L255H	unknown	Het
Frem2	T	C	3: 53,427,047 (GRCm39)	D2967G	possibly damaging	Het
Gabra6	T	G	11: 42,205,954 (GRCm39)	T301P	probably damaging	Het
Ganab	T	A	19: 8,888,477 (GRCm39)	Y511N	probably damaging	Het
Grm4	T	A	17: 27,657,412 (GRCm39)		probably benign	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Kcnj9	G	A	1: 172,153,488 (GRCm39)	S212F	probably damaging	Het
Kif15	C	A	9: 122,788,993 (GRCm39)	H62N	probably benign	Het
Kptn	A	G	7: 15,854,647 (GRCm39)	D106G	probably damaging	Het
Krtap13-1	T	A	16: 88,526,192 (GRCm39)	S139T	probably damaging	Het
Lepr	C	A	4: 101,622,131 (GRCm39)	N354K	probably benign	Het
Lypd3	G	T	7: 24,337,969 (GRCm39)	E112*	probably null	Het
Med13l	A	T	5: 118,886,749 (GRCm39)	N1550I	probably damaging	Het
Mettl2	C	T	11: 105,017,670 (GRCm39)	P60L	probably benign	Het
Mtcl2	G	T	2: 156,902,182 (GRCm39)	R278S	probably damaging	Het
Muc4	A	G	16: 32,590,201 (GRCm39)	E850G	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nek1	A	G	8: 61,542,626 (GRCm39)	R739G	probably damaging	Het
Nipbl	A	T	15: 8,381,039 (GRCm39)	D584E	probably benign	Het
Nkain3	C	T	4: 20,158,388 (GRCm39)	V162M	possibly damaging	Het
Nmrk1	T	C	19: 18,618,844 (GRCm39)		probably benign	Het
Nsd2	T	C	5: 34,018,372 (GRCm39)		probably benign	Het
Or2n1b	T	C	17: 38,459,515 (GRCm39)	F12S	probably damaging	Het
Or4b1	T	A	2: 89,979,627 (GRCm39)	H241L	probably damaging	Het
Or4p23	A	T	2: 88,576,352 (GRCm39)	N293K	probably benign	Het
Or5b24	T	A	19: 12,912,969 (GRCm39)	V289D	probably damaging	Het
Or8b44	T	A	9: 38,410,418 (GRCm39)	M151K	possibly damaging	Het
Otulinl	A	T	15: 27,657,033 (GRCm39)	I338N	probably damaging	Het
Phex	T	A	X: 156,155,557 (GRCm39)		probably benign	Het
Pip5k1b	G	T	19: 24,356,256 (GRCm39)	D227E	probably damaging	Het
Prdm13	A	G	4: 21,683,914 (GRCm39)	I119T	unknown	Het
Rab19	G	T	6: 39,360,893 (GRCm39)	V14L	probably benign	Het
Rasa3	A	G	8: 13,630,118 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,678,074 (GRCm39)	S118N	probably damaging	Het
Rif1	C	T	2: 52,000,365 (GRCm39)	T1273M	possibly damaging	Het
Scn8a	A	G	15: 100,870,711 (GRCm39)	N254S	probably damaging	Het
Sema6a	T	C	18: 47,425,048 (GRCm39)	T188A	probably damaging	Het
Sh3pxd2a	C	T	19: 47,257,201 (GRCm39)	E506K	probably damaging	Het
Smarca2	A	T	19: 26,675,803 (GRCm39)	K1014N	probably damaging	Het
Smarca4	T	G	9: 21,611,435 (GRCm39)		probably null	Het
Sntb1	T	C	15: 55,539,752 (GRCm39)	R361G	probably benign	Het
Tas2r102	T	A	6: 132,739,415 (GRCm39)	W108R	probably damaging	Het
Tcl1	A	G	12: 105,184,929 (GRCm39)	Y94H	probably damaging	Het
Tenm3	T	A	8: 48,689,629 (GRCm39)	Y1986F	probably damaging	Het
Tet2	G	A	3: 133,173,945 (GRCm39)	P1439L	probably benign	Het
Tiam2	T	C	17: 3,563,108 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,928,553 (GRCm39)	T526M	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ushbp1	T	A	8: 71,841,391 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,915,169 (GRCm39)	R115C	probably damaging	Het
Vldlr	A	T	19: 27,215,786 (GRCm39)	D261V	probably damaging	Het
Vmn2r5	C	T	3: 64,411,186 (GRCm39)	D461N	probably benign	Het
Vmn2r86	A	T	10: 130,282,265 (GRCm39)	F784I	probably damaging	Het
Zfp59	A	T	7: 27,553,513 (GRCm39)	I322F	probably damaging	Het
Zfp607a	A	T	7: 27,578,574 (GRCm39)	H548L	probably benign	Het
Zfp626	G	A	7: 27,518,048 (GRCm39)	C343Y	probably damaging	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
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
R7871:Stx5a	UTSW	19	8,732,482 (GRCm39)	missense	unknown
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'- AGAGGCGAGCATGATCTACTACCC -3'
(R):5'- AATAGTAGCCACCTGTCCTCCCAG -3'

Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- CATGGAGTGGCTCAGAATGAGG -3'

Posted On

2014-08-22