Mutagenetix > Incidental Mutation

Incidental Mutation 'R4090:Snap23'

317546

Institutional Source

Beutler Lab

Gene Symbol

Snap23

Ensembl Gene

ENSMUSG00000027287

Gene Name

synaptosomal-associated protein 23

Synonyms

Syndet, SNAP-23, Sndt

MMRRC Submission

040983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120398152-120431736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120416061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 42 (I42V)

Ref Sequence

ENSEMBL: ENSMUSP00000119652 (fasta)

Gene Model

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

AlphaFold

O09044

Predicted Effect

probably benign
Transcript: ENSMUST00000028743
AA Change: I42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028743
Gene: ENSMUSG00000027287
AA Change: I42V

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
AA Change: I42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106339
Gene: ENSMUSG00000027287
AA Change: I42V

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: I42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112138
Gene: ENSMUSG00000027287
AA Change: I42V

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
AA Change: I42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116935
Gene: ENSMUSG00000027287
AA Change: I42V

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
AA Change: I42V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000119652
Gene: ENSMUSG00000027287
AA Change: I42V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153580
AA Change: I42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121509
Gene: ENSMUSG00000027287
AA Change: I42V

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

Meta Mutation Damage Score

0.0660

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (53/55)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Apc2	A	G	10: 80,141,378 (GRCm39)	K268E	probably damaging	Het
Arhgef2	G	C	3: 88,551,185 (GRCm39)	R765P	probably benign	Het
Bptf	T	C	11: 106,972,349 (GRCm39)	K840E	probably damaging	Het
Carf	A	G	1: 60,175,506 (GRCm39)	R245G	possibly damaging	Het
Cd36	A	G	5: 17,990,718 (GRCm39)		probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Col4a4	T	A	1: 82,501,643 (GRCm39)	Y370F	unknown	Het
Cplane1	T	A	15: 8,241,842 (GRCm39)		probably null	Het
Ddx4	A	G	13: 112,750,295 (GRCm39)	V386A	probably benign	Het
Exoc6	A	G	19: 37,560,360 (GRCm39)	T126A	probably benign	Het
Fam83f	A	T	15: 80,576,393 (GRCm39)	N348I	possibly damaging	Het
Gja8	A	G	3: 96,826,468 (GRCm39)	V398A	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm12789	A	T	4: 101,845,526 (GRCm39)	T72S	possibly damaging	Het
Gm1988	A	G	7: 38,820,292 (GRCm39)		noncoding transcript	Het
Gm21370	A	G	13: 120,488,489 (GRCm39)	V20A	probably benign	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Hsd17b13	T	A	5: 104,113,720 (GRCm39)	S245C	probably benign	Het
Htr1f	T	C	16: 64,746,324 (GRCm39)	K323E	probably benign	Het
Igkc	T	C	6: 70,703,442 (GRCm39)		probably benign	Het
Ksr1	T	C	11: 78,918,303 (GRCm39)	E535G	probably damaging	Het
Mlxipl	A	T	5: 135,161,381 (GRCm39)	E433D	probably benign	Het
Npc1	T	C	18: 12,331,219 (GRCm39)		probably null	Het
Or10ak7	C	T	4: 118,791,230 (GRCm39)	E272K	probably benign	Het
Or1e29	A	G	11: 73,667,667 (GRCm39)	L162P	probably damaging	Het
Or6y1	A	G	1: 174,276,500 (GRCm39)	T104A	probably benign	Het
Or7g17	T	C	9: 18,768,398 (GRCm39)	I159T	probably benign	Het
Pcdha3	A	G	18: 37,081,504 (GRCm39)	R749G	probably benign	Het
Ppme1	A	T	7: 99,997,044 (GRCm39)	N122K	possibly damaging	Het
Rasal1	G	A	5: 120,813,674 (GRCm39)	V657M	possibly damaging	Het
Rbm47	A	G	5: 66,180,080 (GRCm39)	M409T	probably benign	Het
Rragd	C	T	4: 33,007,155 (GRCm39)	T161M	probably damaging	Het
Slurp1	T	C	15: 74,598,724 (GRCm39)	H89R	possibly damaging	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Taar8a	T	A	10: 23,953,062 (GRCm39)	V222E	probably damaging	Het
Tmem171	A	T	13: 98,829,096 (GRCm39)	V18D	probably damaging	Het
Topors	T	C	4: 40,260,794 (GRCm39)	D830G	unknown	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Tubg1	T	A	11: 101,015,364 (GRCm39)	M270K	possibly damaging	Het
Vmn1r188	T	C	13: 22,272,772 (GRCm39)	V242A	probably benign	Het
Vmn1r19	T	A	6: 57,381,720 (GRCm39)	I91N	probably damaging	Het
Vmn2r12	T	A	5: 109,239,412 (GRCm39)	M384L	probably benign	Het
Wdr26	T	C	1: 181,030,679 (GRCm39)	E205G	probably damaging	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zfp398	T	A	6: 47,843,159 (GRCm39)	C272S	probably damaging	Het
Zfp975	A	G	7: 42,312,298 (GRCm39)	V105A	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
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'- GGTGAATTTACCATATGCTTGTGAC -3'
(R):5'- TCCCAGTTCAGCAATGACTATG -3'

Sequencing Primer
(F):5'- CATATGCTTGTGACTTACTTTAGAGG -3'
(R):5'- GGATTTTTGGCACTGTAAGT -3'

Posted On

2015-05-15