Mutagenetix > Incidental Mutation

Incidental Mutation 'R3904:Snap23'

309089

Institutional Source

Beutler Lab

Gene Symbol

Snap23

Ensembl Gene

ENSMUSG00000027287

Gene Name

synaptosomal-associated protein 23

Synonyms

Syndet, SNAP-23, Sndt

MMRRC Submission

040812-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120398152-120431736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120429815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 209 (D209A)

Ref Sequence

ENSEMBL: ENSMUSP00000106339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028743] [ENSMUST00000102496] [ENSMUST00000102497] [ENSMUST00000102498] [ENSMUST00000102499] [ENSMUST00000110711] [ENSMUST00000116437] [ENSMUST00000142278] [ENSMUST00000150611]

AlphaFold

O09044

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028743
AA Change: D209A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028743
Gene: ENSMUSG00000027287
AA Change: D209A

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 benign
Transcript: ENSMUST00000102496

SMART Domains

Protein: ENSMUSP00000099554
Gene: ENSMUSG00000027286

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102497

SMART Domains

Protein: ENSMUSP00000099555
Gene: ENSMUSG00000027286

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102498

SMART Domains

Protein: ENSMUSP00000099556
Gene: ENSMUSG00000027286

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102499

SMART Domains

Protein: ENSMUSP00000099557
Gene: ENSMUSG00000027286

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110711
AA Change: D209A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106339
Gene: ENSMUSG00000027287
AA Change: D209A

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 benign
Transcript: ENSMUST00000116437
AA Change: D220A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112138
Gene: ENSMUSG00000027287
AA Change: D220A

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 benign
Transcript: ENSMUST00000142278

SMART Domains

Protein: ENSMUSP00000116935
Gene: ENSMUSG00000027287

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

probably benign
Transcript: ENSMUST00000150611

SMART Domains

Protein: ENSMUSP00000119652
Gene: ENSMUSG00000027287

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

Meta Mutation Damage Score

0.1060

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (39/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,772,400 (GRCm39)	I530L	probably benign	Het
5930422O12Rik	T	C	8: 33,919,467 (GRCm39)	S96P	probably damaging	Het
Acot4	A	G	12: 84,090,101 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,598,660 (GRCm39)	D1631G	probably benign	Het
Amd1	C	T	10: 40,166,453 (GRCm39)	R210H	probably benign	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Anapc1	A	G	2: 128,484,439 (GRCm39)	F1175S	probably damaging	Het
Ano4	A	G	10: 88,860,867 (GRCm39)	F337S	probably damaging	Het
Bub1	A	C	2: 127,663,862 (GRCm39)	I207S	probably benign	Het
Cfap53	T	A	18: 74,440,445 (GRCm39)	L405M	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a1	C	T	10: 76,547,175 (GRCm39)	R730H	unknown	Het
Esp3	A	T	17: 40,946,820 (GRCm39)	T48S	possibly damaging	Het
Fmo1	G	T	1: 162,661,337 (GRCm39)	N315K	possibly damaging	Het
Fsip2l	T	C	X: 47,930,421 (GRCm39)	N649S	possibly damaging	Het
Impg1	A	G	9: 80,252,867 (GRCm39)	S438P	possibly damaging	Het
Jsrp1	T	A	10: 80,648,246 (GRCm39)	M1L	probably benign	Het
Klra14-ps	T	A	6: 130,129,512 (GRCm39)		noncoding transcript	Het
Mrm3	A	G	11: 76,135,112 (GRCm39)	M108V	probably benign	Het
Mtf2	T	A	5: 108,228,866 (GRCm39)	F61I	probably damaging	Het
Nat10	A	T	2: 103,556,592 (GRCm39)		probably benign	Het
Or2y10	T	C	11: 49,455,585 (GRCm39)	I279T	possibly damaging	Het
Or7c70	T	G	10: 78,683,132 (GRCm39)	I206L	probably benign	Het
Pcgf5	T	C	19: 36,417,495 (GRCm39)	I140T	probably damaging	Het
Pfpl	T	C	19: 12,407,801 (GRCm39)	L684P	probably benign	Het
Psmd10	T	C	X: 139,850,052 (GRCm39)	*152W	probably null	Het
Ptpn23	A	C	9: 110,218,313 (GRCm39)	M600R	probably benign	Het
Pxmp4	C	T	2: 154,429,969 (GRCm39)	R140H	probably damaging	Het
Rnf112	T	C	11: 61,341,211 (GRCm39)	E410G	probably damaging	Het
Samd9l	T	A	6: 3,376,830 (GRCm39)	K144*	probably null	Het
Shld2	A	G	14: 33,981,666 (GRCm39)	W491R	probably damaging	Het
Slc46a3	C	T	5: 147,823,264 (GRCm39)	E193K	probably benign	Het
Tg	C	T	15: 66,638,011 (GRCm39)	Q656*	probably null	Het
Tshz2	A	G	2: 169,726,307 (GRCm39)	Y301C	probably damaging	Het
Ttn	T	A	2: 76,670,638 (GRCm39)		probably benign	Het
Unc80	C	T	1: 66,678,455 (GRCm39)	Q2011*	probably null	Het
Vwa3a	A	G	7: 120,358,099 (GRCm39)	T57A	probably benign	Het
Zfp518a	C	T	19: 40,903,364 (GRCm39)	Q1098*	probably null	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
R3755:Snap23	UTSW	2	120,416,726 (GRCm39)	missense	probably damaging	1.00
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'- ATCATATATTCTGCCCCTGAGC -3'
(R):5'- GACTGTAAGGAAGCCTGAGC -3'

Sequencing Primer
(F):5'- ATTGAACCCAGTGTCCAGTG -3'
(R):5'- GGAAGCCTGAGCAAGAACCTAC -3'

Posted On

2015-04-17