Mutagenetix > Incidental Mutations

Incidental Mutation 'R5973:Napg'

471578

Institutional Source

Beutler Lab

Gene Symbol

Napg

Ensembl Gene

ENSMUSG00000024581

Gene Name

N-ethylmaleimide sensitive fusion protein attachment protein gamma

Synonyms

2400003O04Rik, SNARE

MMRRC Submission

044156-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R5973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62977836-62999450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62994983 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 279 (S279N)

Ref Sequence

ENSEMBL: ENSMUSP00000122681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025474] [ENSMUST00000150267]

AlphaFold

Q9CWZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025474
AA Change: S229N

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025474
Gene: ENSMUSG00000024581
AA Change: S229N

Domain	Start	End	E-Value	Type
Pfam:SNAP	7	261	1e-30	PFAM
low complexity region	294	310	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124837

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150267
AA Change: S279N

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122681
Gene: ENSMUSG00000024581
AA Change: S279N

Domain	Start	End	E-Value	Type
Pfam:SNAP	7	195	6.7e-23	PFAM
low complexity region	204	214	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155440

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,226,867	I1536N	probably damaging	Het
Actr1b	A	G	1: 36,702,081	S140P	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc7	A	T	5: 122,428,303	T92S	probably benign	Het
Ash2l	G	A	8: 25,817,614	T585M	possibly damaging	Het
Asxl1	T	C	2: 153,402,011	F1495L	probably damaging	Het
Atp5j	T	C	16: 84,828,440		probably null	Het
Bcl2a1c	A	G	9: 114,330,397	N81S	probably benign	Het
Bfsp2	A	C	9: 103,432,657		probably null	Het
Casq1	A	G	1: 172,219,501	Y64H	probably damaging	Het
Ceacam16	A	G	7: 19,856,337	V227A	probably damaging	Het
Cers6	T	A	2: 69,068,625		probably null	Het
Chrnb1	A	G	11: 69,795,845		probably benign	Het
Clpb	G	A	7: 101,663,997	V63I	probably benign	Het
Dnah11	G	T	12: 118,110,952	D1388E	probably benign	Het
Dst	T	C	1: 34,156,857	L405P	probably damaging	Het
Dstyk	A	G	1: 132,434,411	E193G	probably damaging	Het
Dusp2	A	T	2: 127,337,288	S188C	probably damaging	Het
Ep400	T	C	5: 110,729,831	I810V	unknown	Het
Faim2	C	T	15: 99,521,251	G79D	probably benign	Het
Fpgt	A	T	3: 155,087,403	I329K	probably damaging	Het
Fut8	A	G	12: 77,364,997	T78A	probably benign	Het
Gm10436	T	C	12: 88,175,913	I312V	probably benign	Het
Gm14124	A	G	2: 150,267,935	T182A	unknown	Het
Gm15130	A	G	2: 111,135,369		probably benign	Het
Gm17087	A	C	17: 8,566,697	I58R	probably benign	Het
Gm5724	T	A	6: 141,754,456	T117S	probably benign	Het
Grk2	T	C	19: 4,287,897	D485G	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hmcn1	A	G	1: 150,563,817	S5539P	probably damaging	Het
Hmcn2	G	A	2: 31,420,323	V3310M	probably damaging	Het
Impdh1	A	T	6: 29,207,162	L61Q	probably damaging	Het
Inhbb	A	T	1: 119,418,076	V161D	possibly damaging	Het
Kansl2	C	T	15: 98,529,425	V192M	probably damaging	Het
Krt2	T	C	15: 101,816,312	K288E	probably damaging	Het
Lyar	A	G	5: 38,227,946	K110R	probably damaging	Het
Lyrm9	C	A	11: 78,836,135	H35N	probably damaging	Het
Mab21l1	A	G	3: 55,783,112	D40G	probably benign	Het
Maml2	A	C	9: 13,621,619		probably benign	Het
Mbd5	A	G	2: 49,272,389	H69R	probably benign	Het
Morc2b	G	T	17: 33,137,472	A442E	probably damaging	Het
Moxd2	A	T	6: 40,878,810	L615Q	probably damaging	Het
Msh2	G	A	17: 87,708,583	G548S	probably damaging	Het
Ncor1	A	T	11: 62,349,310		probably null	Het
Nkiras2	G	T	11: 100,626,040	R128L	probably damaging	Het
Npy4r	T	C	14: 34,146,707	D208G	probably benign	Het
Olfr1333	C	T	4: 118,830,216	V75I	probably benign	Het
Olfr589	A	G	7: 103,154,874	V291A	possibly damaging	Het
Olfr901	G	T	9: 38,430,331	L16F	probably damaging	Het
Pcdhgb2	A	G	18: 37,690,507	T184A	probably benign	Het
Plxna4	T	C	6: 32,251,065		probably null	Het
Pnldc1	C	T	17: 12,894,373	E328K	probably benign	Het
Pon1	T	A	6: 5,185,334	L55F	probably damaging	Het
Prkci	G	T	3: 31,038,456	D296Y	probably damaging	Het
Prkd1	T	C	12: 50,388,255	H563R	probably damaging	Het
Ptpru	T	C	4: 131,818,925	N266S	probably benign	Het
Rapgef6	A	T	11: 54,639,783	I589F	probably damaging	Het
Rcan3	A	T	4: 135,418,542	S127T	probably benign	Het
Sh3tc2	A	G	18: 61,977,904	D277G	probably benign	Het
Sipa1l3	G	A	7: 29,399,524	A440V	probably benign	Het
Slc13a2	A	C	11: 78,400,532	I372S	probably damaging	Het
Spns1	A	T	7: 126,370,323	I528N	probably damaging	Het
Sult6b2	T	C	6: 142,790,295	K191R	probably benign	Het
Swt1	A	G	1: 151,402,949		probably null	Het
Tcn2	A	T	11: 3,927,546	L34*	probably null	Het
Tmem131l	C	T	3: 83,922,246	A1035T	possibly damaging	Het
Trpc4	A	G	3: 54,315,842	E733G	probably damaging	Het
Uap1l1	A	T	2: 25,364,630	H184Q	possibly damaging	Het
Vil1	T	G	1: 74,416,033	V48G	possibly damaging	Het
Vps39	A	T	2: 120,328,705	H367Q	probably damaging	Het
Wars2	A	G	3: 99,187,646	T86A	probably benign	Het
Wdr90	A	G	17: 25,845,133	S1872P	probably damaging	Het
Wdr90	A	G	17: 25,846,407	L1625P	probably damaging	Het
Xaf1	A	T	11: 72,303,430	M46L	probably damaging	Het

Other mutations in Napg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01820:Napg	APN	18	62986445	missense	probably benign	0.21
IGL02728:Napg	APN	18	62994304	splice site	probably benign
IGL02742:Napg	APN	18	62986248	missense	probably damaging	0.99
R0276:Napg	UTSW	18	62986963	missense	probably damaging	1.00
R0277:Napg	UTSW	18	62986963	missense	probably damaging	1.00
R0323:Napg	UTSW	18	62986963	missense	probably damaging	1.00
R0325:Napg	UTSW	18	62986963	missense	probably damaging	1.00
R0751:Napg	UTSW	18	62994338	missense	probably benign	0.04
R0988:Napg	UTSW	18	62983360	splice site	probably benign
R1184:Napg	UTSW	18	62994338	missense	probably benign	0.04
R1387:Napg	UTSW	18	62986212	missense	possibly damaging	0.50
R1678:Napg	UTSW	18	62984072	critical splice donor site	probably null
R1779:Napg	UTSW	18	62982691	missense	probably benign	0.33
R4723:Napg	UTSW	18	62992492	critical splice donor site	probably null
R5848:Napg	UTSW	18	62994369	missense	possibly damaging	0.49
R5874:Napg	UTSW	18	62978020	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGTGAGGCATTTCTATGGGG -3'
(R):5'- CATGGTTTGGTGTGAAAATACAGG -3'

Sequencing Primer
(F):5'- ATTTCTATGGGGTCATGAACGAGGAC -3'
(R):5'- TACAGGTATAGAGACAGAAACCTTAC -3'

Posted On

2017-03-31