Mutagenetix > Incidental Mutation

Incidental Mutation 'R8990:Snap23'

723571

Institutional Source

Beutler Lab

Gene Symbol

Snap23

Ensembl Gene

ENSMUSG00000027287

Gene Name

synaptosomal-associated protein 23

Synonyms

Syndet, SNAP-23, Sndt

MMRRC Submission

068822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120398152-120431736 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 120415516 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

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,104,494 (GRCm39)	V731M		Het
Ank2	A	G	3: 126,841,829 (GRCm39)		probably null	Het
Ano8	G	C	8: 71,929,201 (GRCm39)	P1004R	unknown	Het
Aopep	G	A	13: 63,304,428 (GRCm39)	C480Y	probably damaging	Het
Asnsd1	C	T	1: 53,385,901 (GRCm39)	G491D	probably damaging	Het
Atp6v1c2	A	G	12: 17,341,647 (GRCm39)	V248A	probably benign	Het
BC035947	C	T	1: 78,475,486 (GRCm39)	V349M	probably damaging	Het
Bcl2l14	A	G	6: 134,400,630 (GRCm39)	D17G	probably damaging	Het
Bltp1	T	C	3: 36,975,370 (GRCm39)	S681P	possibly damaging	Het
Cbs	T	C	17: 31,834,523 (GRCm39)	T489A	probably benign	Het
Ccdc66	T	C	14: 27,208,655 (GRCm39)	K533R	probably benign	Het
Cenpx	A	G	11: 120,602,591 (GRCm39)	F53S	unknown	Het
Col4a4	A	G	1: 82,473,555 (GRCm39)	S657P	unknown	Het
Csnk2a1	A	G	2: 152,096,177 (GRCm39)	Y50C	probably damaging	Het
Ddx60	C	T	8: 62,427,168 (GRCm39)	R748*	probably null	Het
Diaph1	A	T	18: 37,988,857 (GRCm39)	L959H	probably damaging	Het
Dnaaf5	T	G	5: 139,155,951 (GRCm39)	L544R	probably damaging	Het
Dnah10	A	G	5: 124,814,057 (GRCm39)	D399G		Het
Eif2b4	T	C	5: 31,347,971 (GRCm39)	E247G	probably benign	Het
Fmnl2	T	C	2: 53,016,971 (GRCm39)	I1050T	unknown	Het
Gm10272	T	A	10: 77,542,658 (GRCm39)	S67T	probably damaging	Het
Gm32742	G	A	9: 51,058,802 (GRCm39)	P1072S	probably damaging	Het
Hdac11	T	A	6: 91,145,799 (GRCm39)	L151*	probably null	Het
Iars1	A	G	13: 49,841,752 (GRCm39)	D80G	possibly damaging	Het
Kazn	T	C	4: 141,868,947 (GRCm39)	D413G	probably damaging	Het
Kcnc1	T	A	7: 46,077,733 (GRCm39)	*512R	probably null	Het
Kcnf1	G	A	12: 17,225,336 (GRCm39)	T295I	probably benign	Het
Klhl9	A	G	4: 88,640,205 (GRCm39)	V12A	probably benign	Het
Klk6	T	A	7: 43,476,254 (GRCm39)	H31Q	probably benign	Het
Ldhal6b	A	T	17: 5,468,020 (GRCm39)	S305T	probably damaging	Het
Lta4h	C	A	10: 93,314,315 (GRCm39)	D462E	probably damaging	Het
Ly75	T	G	2: 60,188,903 (GRCm39)	R274S	probably benign	Het
Mideas	T	C	12: 84,218,380 (GRCm39)	T527A	probably benign	Het
Mn1	A	G	5: 111,566,381 (GRCm39)	N117S	possibly damaging	Het
Mrgprd	T	C	7: 144,875,915 (GRCm39)	V262A	probably benign	Het
Mtres1	A	G	10: 43,401,233 (GRCm39)	S239P	unknown	Het
Muc4	C	A	16: 32,574,009 (GRCm39)	H696N	probably benign	Het
Nlrp3	A	T	11: 59,439,584 (GRCm39)	Q387L	probably damaging	Het
Nme7	A	G	1: 164,155,902 (GRCm39)	D34G	probably damaging	Het
Ntrk2	T	A	13: 59,007,988 (GRCm39)	L250*	probably null	Het
Or13p8	T	C	4: 118,584,224 (GRCm39)	V260A	probably benign	Het
Palld	C	T	8: 61,968,279 (GRCm39)	E1096K	probably damaging	Het
Pcdh7	A	G	5: 57,879,364 (GRCm39)	D973G	probably benign	Het
Pced1a	A	G	2: 130,264,471 (GRCm39)	Y120H	probably damaging	Het
Pira13	T	A	7: 3,824,273 (GRCm39)	T627S	unknown	Het
Pkhd1	A	G	1: 20,417,529 (GRCm39)	S2541P	probably benign	Het
Ptcd1	A	G	5: 145,102,047 (GRCm39)	S91P	probably damaging	Het
R3hdm1	C	T	1: 128,106,833 (GRCm39)	R229C	probably damaging	Het
Sectm1a	G	T	11: 120,960,701 (GRCm39)	T38K	probably damaging	Het
Serpinb2	A	T	1: 107,450,428 (GRCm39)	I142F	probably damaging	Het
Slc25a39	A	T	11: 102,295,895 (GRCm39)	V112E	possibly damaging	Het
Sp8	T	A	12: 118,813,122 (GRCm39)	Y326N	possibly damaging	Het
Speer4c2	G	A	5: 15,858,598 (GRCm39)	R141C	probably benign	Het
Spock1	A	T	13: 57,843,984 (GRCm39)		probably null	Het
Trpc2	T	C	7: 101,745,195 (GRCm39)	Y804H	probably benign	Het
Trpc7	T	C	13: 56,952,485 (GRCm39)	N562S	possibly damaging	Het
Trpm6	G	A	19: 18,792,799 (GRCm39)	G741E	probably damaging	Het
Vmn1r160	T	A	7: 22,570,759 (GRCm39)	H37Q	probably damaging	Het
Vmn1r174	G	T	7: 23,453,956 (GRCm39)	M207I	possibly damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	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
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
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'- AGTTACCTGCAATTCTGGAAGG -3'
(R):5'- ATCTCATCATCTGCAGCTAGTG -3'

Sequencing Primer
(F):5'- CCTGCAATTCTGGAAGGAATTCTG -3'
(R):5'- GCTAGTGCTAGTATCCCACCC -3'

Posted On

2022-08-29