Mutagenetix > Incidental Mutation

Incidental Mutation 'R5726:Snap23'

501447

Institutional Source

Beutler Lab

Gene Symbol

Snap23

Ensembl Gene

ENSMUSG00000027287

Gene Name

synaptosomal-associated protein 23

Synonyms

Syndet, SNAP-23, Sndt

MMRRC Submission

043344-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120398152-120431736 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 120414752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121509 (fasta)

Gene Model

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

AlphaFold

O09044

Predicted Effect

probably benign
Transcript: ENSMUST00000028743

SMART Domains

Protein: ENSMUSP00000028743
Gene: ENSMUSG00000027287

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: ENSMUST00000110711

SMART Domains

Protein: ENSMUSP00000106339
Gene: ENSMUSG00000027287

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

SMART Domains

Protein: ENSMUSP00000112138
Gene: ENSMUSG00000027287

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: 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

noncoding transcript
Transcript: ENSMUST00000147864

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153580

SMART Domains

Protein: ENSMUSP00000121509
Gene: ENSMUSG00000027287

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (72/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,835,832 (GRCm39)	K254E	probably damaging	Het
Aak1	C	T	6: 86,902,106 (GRCm39)	Q92*	probably null	Het
Acss3	T	C	10: 106,959,183 (GRCm39)	T88A	possibly damaging	Het
Adcy4	A	T	14: 56,021,118 (GRCm39)	S6R	probably damaging	Het
Aldh1l2	T	C	10: 83,348,170 (GRCm39)	E311G	possibly damaging	Het
Arhgap25	C	T	6: 87,440,441 (GRCm39)	S402N	probably benign	Het
Btn1a1	T	A	13: 23,643,522 (GRCm39)	D309V	probably damaging	Het
Cdh23	C	T	10: 60,243,259 (GRCm39)	V1037M	probably damaging	Het
Clcn2	T	C	16: 20,529,285 (GRCm39)		probably benign	Het
Cln3	T	C	7: 126,174,673 (GRCm39)	T276A	probably null	Het
CN725425	A	G	15: 91,144,706 (GRCm39)	E523G	possibly damaging	Het
Crppa	T	C	12: 36,597,829 (GRCm39)	V320A	probably damaging	Het
Cspg4	A	T	9: 56,793,188 (GRCm39)	T308S	probably damaging	Het
Dgkh	G	T	14: 78,862,342 (GRCm39)	F208L	probably benign	Het
Eif2ak4	A	G	2: 118,273,613 (GRCm39)	D846G	probably damaging	Het
Fmo4	A	G	1: 162,635,828 (GRCm39)		probably null	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Fxr2	T	C	11: 69,524,172 (GRCm39)	V10A	probably benign	Het
Gm10271	T	C	10: 116,792,792 (GRCm39)		probably null	Het
Gsk3b	T	C	16: 38,028,498 (GRCm39)		probably benign	Het
Ift43	T	A	12: 86,208,957 (GRCm39)	D169E	probably damaging	Het
Ift57	T	A	16: 49,519,861 (GRCm39)	L54H	probably damaging	Het
Ighv1-37	T	C	12: 114,860,294 (GRCm39)		probably benign	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lrp2	T	C	2: 69,339,491 (GRCm39)	D1140G	probably damaging	Het
Map1a	G	A	2: 121,135,546 (GRCm39)	A1883T	probably damaging	Het
Map4k2	G	T	19: 6,401,362 (GRCm39)	G611C	probably damaging	Het
Mical1	A	G	10: 41,359,692 (GRCm39)		probably benign	Het
Myh14	A	G	7: 44,292,886 (GRCm39)		probably null	Het
Myh8	T	A	11: 67,185,392 (GRCm39)	V881D	possibly damaging	Het
Myo1g	G	T	11: 6,459,420 (GRCm39)	Q817K	probably benign	Het
Nin	A	C	12: 70,124,953 (GRCm39)	V123G	probably damaging	Het
Nup160	A	G	2: 90,548,195 (GRCm39)	D976G	probably damaging	Het
Nup210l	A	T	3: 90,036,514 (GRCm39)		probably null	Het
Or5an1c	A	G	19: 12,218,644 (GRCm39)	I127T	probably damaging	Het
Phf14	T	C	6: 11,933,537 (GRCm39)		probably benign	Het
Podxl2	T	C	6: 88,825,721 (GRCm39)	D400G	probably damaging	Het
Pygl	C	T	12: 70,237,916 (GRCm39)	W707*	probably null	Het
Rnf19b	T	C	4: 128,965,685 (GRCm39)	V261A	possibly damaging	Het
Rnf213	A	G	11: 119,307,284 (GRCm39)	Y648C	probably damaging	Het
Scn5a	C	T	9: 119,362,913 (GRCm39)	R569H	probably damaging	Het
Sdk2	A	G	11: 113,742,626 (GRCm39)	L761P	probably damaging	Het
Shroom3	C	T	5: 93,090,864 (GRCm39)	P1124S	probably benign	Het
Sirt4	A	G	5: 115,617,705 (GRCm39)	V317A	probably benign	Het
Skic3	T	C	13: 76,266,466 (GRCm39)	Y238H	probably damaging	Het
Slc12a2	G	T	18: 58,029,426 (GRCm39)	A271S	probably benign	Het
Slc6a9	A	G	4: 117,721,210 (GRCm39)	Y208C	probably damaging	Het
Sra1	C	T	18: 36,803,226 (GRCm39)		probably benign	Het
Srbd1	C	T	17: 86,428,157 (GRCm39)	D359N	possibly damaging	Het
Srp19	A	G	18: 34,464,826 (GRCm39)	Y22C	probably damaging	Het
Sstr4	T	C	2: 148,238,003 (GRCm39)	S205P	probably damaging	Het
Sv2b	T	C	7: 74,773,962 (GRCm39)	D503G	possibly damaging	Het
Tbc1d30	C	T	10: 121,103,479 (GRCm39)	V518M	probably damaging	Het
Tlr4	A	G	4: 66,758,652 (GRCm39)	K482E	probably benign	Het
Tpm1	G	A	9: 66,930,694 (GRCm39)	L310F	probably damaging	Het
Trpm6	A	G	19: 18,830,981 (GRCm39)	Y1282C	probably damaging	Het
Tsc22d1	T	A	14: 76,742,757 (GRCm39)	L65*	probably null	Het
Ttc39c	C	A	18: 12,830,992 (GRCm39)	A284D	probably damaging	Het
Txndc16	G	A	14: 45,403,221 (GRCm39)	H297Y	probably benign	Het
Utrn	A	T	10: 12,545,550 (GRCm39)	D1698E	probably benign	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Vmn2r14	A	T	5: 109,365,486 (GRCm39)	D529E	possibly damaging	Het
Vmn2r70	C	T	7: 85,208,315 (GRCm39)	V721I	probably damaging	Het
Zbtb18	A	G	1: 177,276,119 (GRCm39)	H484R	probably damaging	Het
Zc3h13	T	A	14: 75,568,269 (GRCm39)	S1187R	possibly damaging	Het
Zfhx4	T	A	3: 5,468,381 (GRCm39)	D2846E	probably benign	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
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
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'- TCCCATTGGAAAGAATACTTCCC -3'
(R):5'- TGACTCACTTTTCTACTGTGAAAATGG -3'

Sequencing Primer
(F):5'- TAGATTCAGGTTCCAGCAGC -3'
(R):5'- TAGTGGCCTACAAATGGCTC -3'

Posted On

2017-12-01