Mutagenetix > Incidental Mutation

Incidental Mutation 'R6983:Stx5a'

542819

Institutional Source

Beutler Lab

Gene Symbol

Stx5a

Ensembl Gene

ENSMUSG00000010110

Gene Name

syntaxin 5A

Synonyms

syntaxin 5, 0610031F24Rik, D19Ertd627e

MMRRC Submission

045090-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8718788-8733006 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 8732533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139124 (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: R401G

SMART Domains

Protein: ENSMUSP00000010254
Gene: ENSMUSG00000010110
AA Change: R401G

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: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,953,686 (GRCm39)	V530A	probably benign	Het
Adgrg6	T	C	10: 14,307,439 (GRCm39)	N816D	probably damaging	Het
Aebp2	T	C	6: 140,583,389 (GRCm39)	F288L	possibly damaging	Het
Afdn	T	C	17: 14,101,583 (GRCm39)	S1024P	probably damaging	Het
Akap6	A	C	12: 52,934,436 (GRCm39)	K643Q	probably damaging	Het
Atg2a	A	T	19: 6,310,070 (GRCm39)	D1751V	probably damaging	Het
Best2	T	A	8: 85,736,405 (GRCm39)	I253F	probably benign	Het
Bmp1	G	T	14: 70,745,647 (GRCm39)	P55T	probably damaging	Het
C1s1	C	A	6: 124,517,855 (GRCm39)	V42F	possibly damaging	Het
Ccdc115	A	G	1: 34,478,122 (GRCm39)		probably null	Het
Cdc42bpg	C	T	19: 6,371,698 (GRCm39)	P1326S	probably damaging	Het
Cdhr3	G	A	12: 33,092,379 (GRCm39)	T744I	probably benign	Het
Cit	T	G	5: 116,132,150 (GRCm39)	L1745R	probably damaging	Het
Commd6	A	T	14: 101,874,488 (GRCm39)	S39T	probably damaging	Het
Crot	T	G	5: 9,028,280 (GRCm39)	Y223S	probably benign	Het
Crybg1	G	T	10: 43,875,338 (GRCm39)	A590D	probably damaging	Het
Cwf19l2	G	A	9: 3,477,817 (GRCm39)	E841K	probably damaging	Het
Dennd4c	T	C	4: 86,717,730 (GRCm39)	Y576H	probably damaging	Het
Diaph1	A	T	18: 38,022,822 (GRCm39)	V749E	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
F5	A	T	1: 164,021,698 (GRCm39)	D1391V	probably damaging	Het
Foxf2	T	A	13: 31,811,180 (GRCm39)	M373K	probably benign	Het
Fstl1	A	T	16: 37,651,980 (GRCm39)	E287D	probably benign	Het
Gltpd2	T	C	11: 70,411,110 (GRCm39)	Y134H	probably damaging	Het
Hemgn	T	A	4: 46,395,997 (GRCm39)	H413L	possibly damaging	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Hykk	T	C	9: 54,853,793 (GRCm39)	S372P	probably benign	Het
Inava	A	G	1: 136,147,894 (GRCm39)	S353P	possibly damaging	Het
Ints10	T	C	8: 69,246,703 (GRCm39)	V11A	probably damaging	Het
Khdrbs1	A	G	4: 129,614,635 (GRCm39)	V306A	probably benign	Het
Lamtor2	G	A	3: 88,460,146 (GRCm39)	Q9*	probably null	Het
Lonp2	T	A	8: 87,350,876 (GRCm39)	V22E	probably damaging	Het
Mad1l1	T	C	5: 140,179,739 (GRCm39)	E383G	probably damaging	Het
Man2b1	T	A	8: 85,817,700 (GRCm39)		probably null	Het
Mtch1	T	C	17: 29,557,750 (GRCm39)	I243V	probably damaging	Het
Myo18a	T	A	11: 77,736,341 (GRCm39)	M1546K	probably benign	Het
Ntf3	T	C	6: 126,078,808 (GRCm39)	T233A	probably damaging	Het
Omg	T	C	11: 79,392,764 (GRCm39)	S365G	probably benign	Het
Or52ad1	C	T	7: 102,996,022 (GRCm39)	V38I	probably benign	Het
Otol1	T	A	3: 69,935,374 (GRCm39)	N455K	probably damaging	Het
Pakap	T	A	4: 57,709,973 (GRCm39)	V306D	probably damaging	Het
Pde4dip	A	T	3: 97,625,552 (GRCm39)	Y1349N	probably damaging	Het
Pitpnm2	A	G	5: 124,271,469 (GRCm39)	L368P	probably damaging	Het
Pnpla8	T	A	12: 44,330,030 (GRCm39)	I194K	possibly damaging	Het
Podn	T	C	4: 107,881,470 (GRCm39)		probably null	Het
Potefam1	A	G	2: 111,058,595 (GRCm39)		probably null	Het
Pramel6	A	T	2: 87,339,923 (GRCm39)	E229V	possibly damaging	Het
Ptpro	C	T	6: 137,426,915 (GRCm39)	P262L	probably damaging	Het
Rnf122	A	T	8: 31,608,488 (GRCm39)	T19S	probably benign	Het
Shank2	T	A	7: 143,635,585 (GRCm39)	Y320N	possibly damaging	Het
Slc2a9	A	C	5: 38,549,064 (GRCm39)	I243S	probably damaging	Het
Slc5a6	A	T	5: 31,197,749 (GRCm39)	M130K	probably benign	Het
Tbr1	G	T	2: 61,642,079 (GRCm39)	G185V	probably damaging	Het
Tg	A	G	15: 66,565,207 (GRCm39)	D1183G	probably benign	Het
Thbs1	A	T	2: 117,950,433 (GRCm39)	I689F	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trub2	A	T	2: 29,677,796 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,597,306 (GRCm39)	V19869A	probably damaging	Het
Tufm	T	C	7: 126,088,607 (GRCm39)	V303A	possibly damaging	Het
Vezf1	T	C	11: 87,964,145 (GRCm39)	I99T	possibly damaging	Het
Vmn2r1	T	C	3: 63,989,118 (GRCm39)	V19A	probably benign	Het
Xpc	C	T	6: 91,481,005 (GRCm39)	R289K	probably damaging	Het
Zfp811	T	A	17: 33,016,406 (GRCm39)	K545*	probably null	Het
Zmiz2	G	A	11: 6,352,413 (GRCm39)	D623N	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
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
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'- GTCAGTTACCTCCAATCGGTG -3'
(R):5'- AAGGAAGGGCGTTTTCTCCTC -3'

Sequencing Primer
(F):5'- CAATCGGTGGCTCATGGTCAAAATC -3'
(R):5'- GCTTATAAAAATCTCAAGGTGGAGAC -3'

Posted On

2018-11-28