Mutagenetix > Incidental Mutation

Incidental Mutation 'R2137:Snap29'

235913

Institutional Source

Beutler Lab

Gene Symbol

Snap29

Ensembl Gene

ENSMUSG00000022765

Gene Name

synaptosomal-associated protein 29

Synonyms

1300018G05Rik

MMRRC Submission

040140-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2137 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17223864-17248690 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17246113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 244 (D244E)

Ref Sequence

ENSEMBL: ENSMUSP00000023449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023449]

AlphaFold

Q9ERB0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023449
AA Change: D244E

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023449
Gene: ENSMUSG00000022765
AA Change: D244E

Domain	Start	End	E-Value	Type
t_SNARE	45	112	1.53e-6	SMART
t_SNARE	193	260	1.39e-13	SMART

Meta Mutation Damage Score

0.0772

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	C	T	10: 81,482,143 (GRCm39)	T88I	probably damaging	Het
Atm	A	T	9: 53,364,675 (GRCm39)	V49D	probably damaging	Het
Bub1b	G	T	2: 118,467,199 (GRCm39)	E841*	probably null	Het
Cdh20	A	T	1: 110,027,836 (GRCm39)	N527I	probably damaging	Het
Cdh22	G	A	2: 164,958,314 (GRCm39)		probably benign	Het
Cog1	T	C	11: 113,550,127 (GRCm39)	L262P	probably damaging	Het
Col22a1	T	C	15: 71,878,797 (GRCm39)	H120R	possibly damaging	Het
Col4a2	T	C	8: 11,483,749 (GRCm39)	S890P	probably benign	Het
Cubn	T	C	2: 13,340,978 (GRCm39)	I2248V	probably benign	Het
Evpl	T	C	11: 116,112,665 (GRCm39)	E1675G	probably damaging	Het
Faiml	G	A	9: 99,114,545 (GRCm39)	P115S	probably benign	Het
Fgg	A	T	3: 82,915,745 (GRCm39)	D62V	possibly damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Galntl6	C	T	8: 58,988,939 (GRCm39)		probably null	Het
Glyr1	T	C	16: 4,836,346 (GRCm39)	Y501C	probably benign	Het
Gm9847	G	T	12: 14,545,082 (GRCm39)		noncoding transcript	Het
Gria4	T	G	9: 4,427,026 (GRCm39)		probably benign	Het
Il36b	A	G	2: 24,044,672 (GRCm39)	N24S	probably benign	Het
Il6st	C	A	13: 112,639,392 (GRCm39)	H606N	possibly damaging	Het
Itprid1	A	G	6: 55,866,174 (GRCm39)	Q189R	probably damaging	Het
Kctd10	A	G	5: 114,505,389 (GRCm39)	F202L	probably damaging	Het
Kif17	T	A	4: 137,989,978 (GRCm39)	D55E	probably damaging	Het
Klf1	C	T	8: 85,629,775 (GRCm39)	A200V	possibly damaging	Het
Klhl32	A	T	4: 24,629,275 (GRCm39)	Y497*	probably null	Het
Kng2	G	T	16: 22,816,076 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,577,611 (GRCm39)	V245A	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Mss51	T	C	14: 20,537,591 (GRCm39)	I47V	probably benign	Het
Myoz2	G	A	3: 122,827,861 (GRCm39)	T19M	probably benign	Het
Nampt	T	A	12: 32,880,309 (GRCm39)	N67K	probably benign	Het
Ncor2	A	T	5: 125,107,776 (GRCm39)	I1607K	probably damaging	Het
Nudt4	T	C	10: 95,399,600 (GRCm39)	Q7R	probably damaging	Het
Or5b119	A	G	19: 13,457,173 (GRCm39)	Y130H	probably damaging	Het
Or5b121	T	A	19: 13,507,802 (GRCm39)	I255N	probably damaging	Het
Or8b12i	T	A	9: 20,082,463 (GRCm39)	I135F	probably damaging	Het
Pgm2	A	T	5: 64,273,709 (GRCm39)	M565L	probably benign	Het
Phactr1	T	G	13: 43,288,651 (GRCm39)	F639V	possibly damaging	Het
Plod3	C	A	5: 137,017,571 (GRCm39)	R165S	probably damaging	Het
Polr2b	T	A	5: 77,468,193 (GRCm39)	N164K	probably benign	Het
Rcbtb2	G	A	14: 73,399,491 (GRCm39)	G52S	probably damaging	Het
Rfc1	A	G	5: 65,468,382 (GRCm39)		probably null	Het
Rheb	A	G	5: 25,012,601 (GRCm39)		probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Ripor2	G	A	13: 24,905,817 (GRCm39)		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scg3	A	T	9: 75,584,092 (GRCm39)	D136E	probably damaging	Het
Slc10a4	C	T	5: 73,164,923 (GRCm39)	L172F	probably damaging	Het
Slc35c2	A	G	2: 165,123,299 (GRCm39)	Y113H	probably damaging	Het
Slc47a1	T	A	11: 61,235,318 (GRCm39)	D505V	probably benign	Het
Taar1	T	C	10: 23,797,168 (GRCm39)	F289L	probably benign	Het
Thbs2	T	A	17: 14,893,568 (GRCm39)	N871Y	probably damaging	Het
Tmem108	T	A	9: 103,377,162 (GRCm39)	T96S	possibly damaging	Het
Tnk2	G	T	16: 32,489,620 (GRCm39)		probably null	Het
Trak1	T	A	9: 121,302,028 (GRCm39)	M928K	possibly damaging	Het
Tuba3b	A	G	6: 145,564,559 (GRCm39)	I110V	probably benign	Het
Tyk2	A	G	9: 21,022,281 (GRCm39)		probably benign	Het
Ugt1a9	T	A	1: 87,998,759 (GRCm39)	C70S	probably benign	Het
Vmn2r10	A	T	5: 109,151,410 (GRCm39)	I68K	possibly damaging	Het
Wfs1	T	C	5: 37,124,845 (GRCm39)	E682G	probably damaging	Het
Zfp213	T	C	17: 23,778,481 (GRCm39)		probably null	Het
Zfp809	T	C	9: 22,146,434 (GRCm39)	V41A	probably benign	Het
Zfp831	A	G	2: 174,547,539 (GRCm39)	K1574R	possibly damaging	Het

Other mutations in Snap29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03231:Snap29	APN	16	17,244,964 (GRCm39)	missense	probably benign	0.06
IGL02799:Snap29	UTSW	16	17,240,367 (GRCm39)	missense	probably benign
R0086:Snap29	UTSW	16	17,246,100 (GRCm39)	missense	probably damaging	0.96
R0371:Snap29	UTSW	16	17,224,067 (GRCm39)	missense	probably benign	0.02
R0616:Snap29	UTSW	16	17,240,370 (GRCm39)	nonsense	probably null
R0709:Snap29	UTSW	16	17,224,012 (GRCm39)	missense	probably damaging	0.99
R2002:Snap29	UTSW	16	17,224,190 (GRCm39)	nonsense	probably null
R4478:Snap29	UTSW	16	17,246,019 (GRCm39)	missense	probably benign	0.00
R4976:Snap29	UTSW	16	17,237,132 (GRCm39)	missense	probably damaging	1.00
R5933:Snap29	UTSW	16	17,224,194 (GRCm39)	missense	probably damaging	1.00
R6314:Snap29	UTSW	16	17,237,183 (GRCm39)	missense	probably benign	0.25
R6824:Snap29	UTSW	16	17,240,370 (GRCm39)	missense	probably benign	0.01
R7397:Snap29	UTSW	16	17,237,236 (GRCm39)	missense	probably damaging	1.00
R9088:Snap29	UTSW	16	17,246,058 (GRCm39)	missense	probably damaging	1.00
R9180:Snap29	UTSW	16	17,224,163 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCAGGCAGGACTCTGTAG -3'
(R):5'- TACTCAGCTTAGACTAAAACTCAGCAG -3'

Sequencing Primer
(F):5'- GACTCTGTAGTTGAGAGGCAC -3'
(R):5'- CAGCAGAACAGCTCAATAATTTTAG -3'

Posted On

2014-10-01