Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02146:Snap23'

281751

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snap23

Ensembl Gene

ENSMUSG00000027287

Gene Name

synaptosomal-associated protein 23

Synonyms

Syndet, SNAP-23, Sndt

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02146

Quality Score

Status

Chromosome

Chromosomal Location

120398152-120431736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120429792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 212 (N212K)

Ref Sequence

ENSEMBL: ENSMUSP00000112138 (fasta)

Gene Model

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

AlphaFold

O09044

Predicted Effect

probably damaging
Transcript: ENSMUST00000028743
AA Change: N201K

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

SMART Domains

Protein: ENSMUSP00000028743
Gene: ENSMUSG00000027287
AA Change: N201K

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

probably damaging
Transcript: ENSMUST00000110711
AA Change: N201K

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

SMART Domains

Protein: ENSMUSP00000106339
Gene: ENSMUSG00000027287
AA Change: N201K

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: N212K

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

SMART Domains

Protein: ENSMUSP00000112138
Gene: ENSMUSG00000027287
AA Change: N212K

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

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,164,023 (GRCm39)	C784R	possibly damaging	Het
Akp3	A	T	1: 87,054,297 (GRCm39)	D278V	probably benign	Het
Atxn7l1	G	T	12: 33,418,030 (GRCm39)	R730S	probably benign	Het
Bag6	A	G	17: 35,355,191 (GRCm39)	T30A	probably damaging	Het
Blk	G	T	14: 63,611,648 (GRCm39)	P429H	probably damaging	Het
Bmp2k	T	A	5: 97,212,689 (GRCm39)	M524K	unknown	Het
Bst1	T	A	5: 43,983,678 (GRCm39)	H221Q	probably damaging	Het
Ces2g	T	C	8: 105,693,576 (GRCm39)	I419T	possibly damaging	Het
Cnep1r1	T	C	8: 88,856,326 (GRCm39)	V34A	probably benign	Het
Ctnnbl1	A	G	2: 157,661,414 (GRCm39)	E308G	probably damaging	Het
Cyp20a1	A	T	1: 60,410,410 (GRCm39)	K237I	possibly damaging	Het
Dlg5	T	C	14: 24,252,429 (GRCm39)	T104A	probably damaging	Het
Dnaaf11	C	T	15: 66,361,374 (GRCm39)	W42*	probably null	Het
Dnaaf11	C	A	15: 66,361,375 (GRCm39)	W42L	probably benign	Het
Dnah9	C	T	11: 65,818,526 (GRCm39)	V3271M	probably damaging	Het
Eed	T	A	7: 89,618,803 (GRCm39)	N204Y	possibly damaging	Het
Fat3	A	G	9: 15,910,878 (GRCm39)	V1708A	probably benign	Het
Fcrl6	T	C	1: 172,426,264 (GRCm39)	T178A	probably benign	Het
Galnt4	A	C	10: 98,945,563 (GRCm39)	K429N	possibly damaging	Het
Ints6	T	A	14: 62,996,709 (GRCm39)	T94S	possibly damaging	Het
Iqsec3	A	T	6: 121,360,916 (GRCm39)	S981T	probably damaging	Het
Itga9	T	A	9: 118,663,400 (GRCm39)	S146T	possibly damaging	Het
Itpr3	A	G	17: 27,336,249 (GRCm39)	Y2325C	probably damaging	Het
Kng2	T	A	16: 22,806,582 (GRCm39)	Q539L	probably damaging	Het
Lmtk3	T	A	7: 45,444,371 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,129,927 (GRCm39)	Y248H	probably damaging	Het
Mroh1	A	G	15: 76,318,879 (GRCm39)		probably benign	Het
Mroh2b	T	C	15: 4,980,776 (GRCm39)		probably null	Het
Myo18b	A	T	5: 112,991,151 (GRCm39)	M942K	probably damaging	Het
Myzap	T	A	9: 71,471,730 (GRCm39)	T94S	probably benign	Het
Nebl	C	A	2: 17,353,679 (GRCm39)	R957S	probably damaging	Het
Nexn	A	T	3: 151,952,885 (GRCm39)	D278E	probably benign	Het
Nlgn1	A	T	3: 25,966,846 (GRCm39)	N222K	probably damaging	Het
Or6c76	T	A	10: 129,612,727 (GRCm39)		probably benign	Het
Or8d1	G	A	9: 38,766,654 (GRCm39)	A99T	probably benign	Het
Osbpl6	A	T	2: 76,380,094 (GRCm39)	R79S	possibly damaging	Het
Phip	T	C	9: 82,763,771 (GRCm39)	I1268M	probably benign	Het
Pkd2	G	T	5: 104,637,157 (GRCm39)	R590L	probably damaging	Het
Reg2	G	A	6: 78,382,568 (GRCm39)		probably benign	Het
Scaf1	A	T	7: 44,662,934 (GRCm39)	D26E	probably damaging	Het
Ska1	A	G	18: 74,329,981 (GRCm39)	I253T	possibly damaging	Het
Slc11a2	T	C	15: 100,299,169 (GRCm39)	N443D	probably damaging	Het
Slc6a12	A	T	6: 121,330,460 (GRCm39)	T155S	probably benign	Het
Slit3	A	G	11: 35,125,675 (GRCm39)	K118R	possibly damaging	Het
Snx13	T	A	12: 35,151,078 (GRCm39)	D346E	probably benign	Het
Sumf1	C	A	6: 108,150,392 (GRCm39)		probably null	Het
Susd2	T	C	10: 75,474,267 (GRCm39)	N479S	possibly damaging	Het
Tiam1	A	G	16: 89,646,569 (GRCm39)	I821T	probably benign	Het
Tll2	C	A	19: 41,086,276 (GRCm39)	V651L	probably benign	Het
Vmn2r1	A	G	3: 64,012,104 (GRCm39)	D655G	probably benign	Het
Vmn2r72	T	C	7: 85,387,170 (GRCm39)	Y798C	probably damaging	Het
Vps13b	A	C	15: 35,646,479 (GRCm39)	I1528L	probably benign	Het
Wdtc1	G	A	4: 133,029,076 (GRCm39)	L337F	probably benign	Het
Zfp128	A	C	7: 12,623,959 (GRCm39)	K109T	possibly damaging	Het

Other mutations in Snap23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16