Mutagenetix > Incidental Mutation

Incidental Mutation 'R3755:Snap23'

271374

Institutional Source

Beutler Lab

Gene Symbol

Snap23

Ensembl Gene

ENSMUSG00000027287

Gene Name

synaptosomal-associated protein 23

Synonyms

Syndet, SNAP-23, Sndt

MMRRC Submission

040738-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120398152-120431736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120416726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 79 (C79S)

Ref Sequence

ENSEMBL: ENSMUSP00000121509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028743] [ENSMUST00000110711] [ENSMUST00000116437] [ENSMUST00000142278] [ENSMUST00000150611] [ENSMUST00000153580]

AlphaFold

O09044

Predicted Effect

probably damaging
Transcript: ENSMUST00000028743
AA Change: C79S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028743
Gene: ENSMUSG00000027287
AA Change: C79S

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART
t_SNARE	140	207	1.89e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110711
AA Change: C79S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106339
Gene: ENSMUSG00000027287
AA Change: C79S

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART
t_SNARE	140	207	1.89e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000116437
AA Change: C79S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112138
Gene: ENSMUSG00000027287
AA Change: C79S

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART
t_SNARE	151	218	1.89e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137144

Predicted Effect

probably damaging
Transcript: ENSMUST00000142278
AA Change: C79S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116935
Gene: ENSMUSG00000027287
AA Change: C79S

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART
Pfam:SNAP-25	86	146	6.8e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147864

Predicted Effect

probably damaging
Transcript: ENSMUST00000150611
AA Change: C79S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119652
Gene: ENSMUSG00000027287
AA Change: C79S

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000153580
AA Change: C79S

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

SMART Domains

Protein: ENSMUSP00000121509
Gene: ENSMUSG00000027287
AA Change: C79S

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART

Meta Mutation Damage Score

0.4727

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (50/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to E3.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	A	10: 29,098,110 (GRCm39)	S169Y	probably damaging	Het
Abcb1a	G	A	5: 8,797,403 (GRCm39)	V1225M	possibly damaging	Het
Adamdec1	A	T	14: 68,814,587 (GRCm39)	I130N	probably damaging	Het
Atf7ip	T	A	6: 136,537,815 (GRCm39)	N357K	probably benign	Het
Bace2	C	G	16: 97,237,857 (GRCm39)	T436R	probably benign	Het
Capn13	G	A	17: 73,638,114 (GRCm39)	Q430*	probably null	Het
Ccdc30	A	T	4: 119,225,005 (GRCm39)		probably null	Het
Ces5a	T	C	8: 94,255,130 (GRCm39)	T184A	probably benign	Het
Cntnap5c	T	C	17: 58,411,594 (GRCm39)	C493R	possibly damaging	Het
Creb3l2	A	T	6: 37,340,961 (GRCm39)	I146N	possibly damaging	Het
Erich3	A	G	3: 154,469,958 (GRCm39)		probably benign	Het
Etl4	G	A	2: 20,748,348 (GRCm39)	V27I	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fsip2	G	A	2: 82,808,561 (GRCm39)	D1627N	probably benign	Het
Gcdh	A	G	8: 85,620,109 (GRCm39)		probably benign	Het
Kcna7	T	C	7: 45,058,369 (GRCm39)	F219L	probably benign	Het
Kdm3b	T	C	18: 34,941,349 (GRCm39)	L280S	probably benign	Het
Knl1	T	A	2: 118,933,060 (GRCm39)	V2073D	probably damaging	Het
Kprp	A	G	3: 92,732,346 (GRCm39)	S235P	unknown	Het
Lpp	A	G	16: 24,663,911 (GRCm39)	H396R	probably benign	Het
Lrch4	T	A	5: 137,635,992 (GRCm39)	D348E	probably damaging	Het
Mcm9	T	C	10: 53,502,048 (GRCm39)	N179S	probably benign	Het
Mettl13	T	C	1: 162,371,789 (GRCm39)	E360G	probably damaging	Het
Nfib	A	T	4: 82,241,936 (GRCm39)	S418R	probably damaging	Het
Or52b1	A	G	7: 104,979,358 (GRCm39)	F14L	probably damaging	Het
Or8s2	A	C	15: 98,276,463 (GRCm39)	I176S	probably benign	Het
Pcdha8	G	A	18: 37,126,741 (GRCm39)	V408M	probably damaging	Het
Pcdhb3	T	C	18: 37,435,878 (GRCm39)	F615L	probably damaging	Het
Pkd1l3	C	T	8: 110,359,171 (GRCm39)	T844I	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,802 (GRCm39)	E3909V	probably damaging	Het
Poldip3	A	G	15: 83,015,676 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,816,143 (GRCm39)	I219T	probably damaging	Het
Rad18	T	C	6: 112,670,432 (GRCm39)	N44S	probably damaging	Het
Reep5	T	C	18: 34,505,527 (GRCm39)	Y48C	probably damaging	Het
Rgl2	C	A	17: 34,151,571 (GRCm39)	A205D	probably benign	Het
Rundc3a	A	G	11: 102,290,085 (GRCm39)	I175V	possibly damaging	Het
Slamf1	C	T	1: 171,604,728 (GRCm39)	A166V	probably damaging	Het
Slc4a5	A	G	6: 83,265,285 (GRCm39)	D693G	probably benign	Het
Spag6l	A	C	16: 16,580,884 (GRCm39)		probably null	Het
Trappc13	C	T	13: 104,305,068 (GRCm39)	D40N	probably benign	Het
Trav4-3	C	A	14: 53,836,596 (GRCm39)	S20R	probably benign	Het
Tssk2	G	A	16: 17,716,827 (GRCm39)	E77K	probably damaging	Het
Ubap2	A	G	4: 41,195,482 (GRCm39)	F1051S	probably damaging	Het
Ugt3a1	A	G	15: 9,367,498 (GRCm39)	T414A	probably benign	Het
Urod	C	T	4: 116,850,601 (GRCm39)	C66Y	probably damaging	Het
Vmn1r234	A	G	17: 21,449,271 (GRCm39)	K62E	probably damaging	Het
Wiz	A	G	17: 32,578,106 (GRCm39)	S460P	probably damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zbtb7a	C	T	10: 80,980,100 (GRCm39)	T98M	probably damaging	Het
Zfp524	C	A	7: 5,020,884 (GRCm39)	H137Q	probably damaging	Het

Other mutations in Snap23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02146:Snap23	APN	2	120,429,792 (GRCm39)	missense	probably damaging	1.00
IGL02804:Snap23	APN	2	120,416,637 (GRCm39)	splice site	probably benign
R1844:Snap23	UTSW	2	120,421,163 (GRCm39)	missense	probably benign
R2268:Snap23	UTSW	2	120,429,793 (GRCm39)	missense	probably benign
R3904:Snap23	UTSW	2	120,429,815 (GRCm39)	missense	possibly damaging	0.50
R4089:Snap23	UTSW	2	120,414,856 (GRCm39)	splice site	probably benign
R4090:Snap23	UTSW	2	120,416,061 (GRCm39)	missense	probably benign	0.00
R4112:Snap23	UTSW	2	120,414,856 (GRCm39)	splice site	probably benign
R5509:Snap23	UTSW	2	120,425,346 (GRCm39)	missense	probably benign	0.05
R5726:Snap23	UTSW	2	120,414,752 (GRCm39)	splice site	probably benign
R8990:Snap23	UTSW	2	120,415,516 (GRCm39)	intron	probably benign
R9266:Snap23	UTSW	2	120,414,781 (GRCm39)	start gained	probably benign
Z1177:Snap23	UTSW	2	120,425,331 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CTCACTGGCAGGTGATAGGTAG -3'
(R):5'- GGCACGATTTTCTATGAACCTTCC -3'

Sequencing Primer
(F):5'- AGCGTGGAGGTTGCAGC -3'
(R):5'- AACCTTCCCACTTATATAAAACCTTG -3'

Posted On

2015-03-18