Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03152:Stx5a'

411135

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stx5a

Ensembl Gene

ENSMUSG00000010110

Gene Name

syntaxin 5A

Synonyms

syntaxin 5, 0610031F24Rik, D19Ertd627e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03152

Quality Score

Status

Chromosome

Chromosomal Location

8718788-8733006 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 8727138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010254] [ENSMUST00000073430] [ENSMUST00000175872] [ENSMUST00000175901] [ENSMUST00000176013] [ENSMUST00000176381] [ENSMUST00000177373] [ENSMUST00000176968] [ENSMUST00000177322] [ENSMUST00000176570]

AlphaFold

Q8K1E0

Predicted Effect

probably null
Transcript: ENSMUST00000010254

SMART Domains

Protein: ENSMUSP00000010254
Gene: ENSMUSG00000010110

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 null
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

noncoding transcript
Transcript: ENSMUST00000175834

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 null
Transcript: ENSMUST00000175901

SMART Domains

Protein: ENSMUSP00000134951
Gene: ENSMUSG00000010110

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
Pfam:Syntaxin	90	194	4e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176009

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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000176404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176182

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000176570

SMART Domains

Protein: ENSMUSP00000134892
Gene: ENSMUSG00000010110

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176844

Coding Region Coverage

Validation Efficiency

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d1	T	A	5: 16,527,566 (GRCm39)	N540K	probably benign	Het
Caln1	A	G	5: 130,646,693 (GRCm39)	E43G	probably damaging	Het
Car14	A	C	3: 95,806,157 (GRCm39)	C301W	probably damaging	Het
Clpx	G	A	9: 65,217,458 (GRCm39)	V9I	possibly damaging	Het
Edar	A	G	10: 58,445,817 (GRCm39)	F249S	possibly damaging	Het
Fads2b	A	G	2: 85,330,648 (GRCm39)	S220P	probably damaging	Het
Fhip2a	C	A	19: 57,367,264 (GRCm39)	T269K	probably damaging	Het
Gm4799	A	G	10: 82,790,797 (GRCm39)		noncoding transcript	Het
Grk4	T	C	5: 34,902,701 (GRCm39)	S418P	probably damaging	Het
Kcnh4	A	G	11: 100,636,598 (GRCm39)	S774P	probably benign	Het
Kif23	A	G	9: 61,837,058 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Myef2l	A	T	3: 10,153,334 (GRCm39)	K34N	probably benign	Het
Or5al1	A	T	2: 85,990,030 (GRCm39)	I228N	possibly damaging	Het
Pcgf6	A	T	19: 47,037,344 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,868,036 (GRCm39)	R265C	probably damaging	Het
Smgc	A	G	15: 91,725,625 (GRCm39)	K2R	possibly damaging	Het
Syne2	A	T	12: 76,012,486 (GRCm39)	N2560I	probably benign	Het
Tuba3a	A	T	6: 125,258,300 (GRCm39)	L230Q	probably damaging	Het
Tubb4b-ps1	A	G	5: 7,230,001 (GRCm39)		probably benign	Het
Zfp217	A	G	2: 169,960,972 (GRCm39)	S452P	probably damaging	Het
Zfp764l1	A	G	7: 126,991,469 (GRCm39)	C173R	probably damaging	Het
Zzef1	G	A	11: 72,814,008 (GRCm39)		probably null	Het

Other mutations in Stx5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2016-08-02