Mutagenetix > Incidental Mutation

Incidental Mutation 'R4723:Napg'

397225

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

041959-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R4723 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62977836-62999450 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 62992492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122681 (fasta)

Gene Model

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

AlphaFold

Q9CWZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000025474

SMART Domains

Protein: ENSMUSP00000025474
Gene: ENSMUSG00000024581

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

probably null
Transcript: ENSMUST00000150267

SMART Domains

Protein: ENSMUSP00000122681
Gene: ENSMUSG00000024581

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

Validation Efficiency

94% (77/82)

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
4932443I19Rik	A	T	8: 13,735,937	N69I	probably damaging	Het
Adgrv1	T	C	13: 81,433,525	D4800G	probably benign	Het
Akna	T	C	4: 63,387,032	D499G	probably benign	Het
Arid1b	A	C	17: 5,337,290	I1673L	probably benign	Het
Bcr	T	A	10: 75,175,329	M24K	probably benign	Het
Bsn	A	G	9: 108,112,655	V1966A	probably benign	Het
Ccdc39	T	C	3: 33,813,078	N928S	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdc6	G	A	11: 98,908,831		probably null	Het
Cmtm1	C	T	8: 104,293,675	A371T	probably damaging	Het
Cmtm7	A	C	9: 114,763,391	V46G	possibly damaging	Het
Cmtr1	A	G	17: 29,687,157		probably null	Het
Col5a3	T	C	9: 20,809,591	H149R	unknown	Het
Coro7	T	G	16: 4,631,994	Q634P	probably benign	Het
Crym	A	G	7: 120,201,075		probably null	Het
Csmd3	A	T	15: 47,669,160	F2546L	probably benign	Het
Dmap1	T	C	4: 117,676,039	T273A	probably benign	Het
Dnah1	T	C	14: 31,272,942	Y2786C	probably damaging	Het
Echs1	A	C	7: 140,110,648		probably benign	Het
Edem3	T	A	1: 151,804,698	F525I	possibly damaging	Het
Exosc3	T	C	4: 45,319,642	I127V	probably benign	Het
Fam193a	A	G	5: 34,420,786	D208G	probably benign	Het
Farp2	T	C	1: 93,580,899	V773A	probably benign	Het
Gas6	A	G	8: 13,466,848	V550A	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm2423	A	G	13: 13,232,376		noncoding transcript	Het
Grin1	T	C	2: 25,294,470	S911G	probably benign	Het
Hkdc1	T	C	10: 62,400,354	I470V	probably benign	Het
Hsdl2	T	A	4: 59,593,270		probably benign	Het
Iars2	A	G	1: 185,315,979	Y519H	probably damaging	Het
Ikbkb	A	T	8: 22,669,607	M455K	probably benign	Het
Keap1	G	T	9: 21,231,410	H516Q	probably benign	Het
Klk1b27	A	T	7: 44,056,532	I220F	probably damaging	Het
Knop1	G	A	7: 118,855,864		probably benign	Het
Lhcgr	T	C	17: 88,742,602	T499A	probably benign	Het
Lrch3	A	T	16: 32,988,484		probably null	Het
Lrrc2	G	A	9: 110,970,160		probably null	Het
Lrrk2	T	C	15: 91,764,759	L1652P	probably damaging	Het
Mbl1	T	C	14: 41,154,558	V71A	possibly damaging	Het
Med8	T	A	4: 118,411,801	M1K	probably null	Het
Mfsd2b	A	G	12: 4,868,992	L88P	probably benign	Het
Mkrn2	T	A	6: 115,611,850	C185S	probably damaging	Het
Myo1d	A	G	11: 80,779,841		probably benign	Het
Ncor1	A	G	11: 62,378,612	M253T	probably benign	Het
Oas3	T	C	5: 120,766,256	T518A	unknown	Het
Obox3-ps8	A	G	17: 36,453,144		noncoding transcript	Het
Olfr519	A	T	7: 108,893,821	F195L	probably benign	Het
Olfr656	T	C	7: 104,618,489	V270A	possibly damaging	Het
Olfr71	T	C	4: 43,705,785	K261R	probably damaging	Het
Opn5	A	T	17: 42,607,200	M57K	probably damaging	Het
Pde2a	C	G	7: 101,494,618	P148R	possibly damaging	Het
Prss56	C	T	1: 87,185,337	L158F	possibly damaging	Het
Psmg3	G	A	5: 139,826,370		probably benign	Het
Rnase9	C	T	14: 51,039,444	G26R	probably damaging	Het
Skint4	T	C	4: 112,118,236	V131A	possibly damaging	Het
Slc10a4	T	A	5: 73,012,055	V341E	probably damaging	Het
Slc16a14	T	C	1: 84,913,020	Y188C	probably damaging	Het
Slc7a1	G	T	5: 148,335,440	P476T	probably damaging	Het
Smchd1	A	T	17: 71,436,747	C474*	probably null	Het
Smurf1	A	T	5: 144,893,184	D336E	probably damaging	Het
Sox30	G	A	11: 45,984,765	S448N	probably benign	Het
Spag11a	G	A	8: 19,159,382	V63I	possibly damaging	Het
Sprr1b	T	G	3: 92,437,293	K92T	probably damaging	Het
Stam2	T	C	2: 52,720,950	Y20C	probably benign	Het
Sult2b1	T	A	7: 45,742,065	Y97F	probably damaging	Het
Tecpr2	C	T	12: 110,932,976	P593S	probably benign	Het
Tek	T	C	4: 94,799,160	V170A	possibly damaging	Het
Tiam2	A	G	17: 3,450,317	Y891C	probably benign	Het
Tmem220	A	G	11: 67,029,993	T75A	possibly damaging	Het
Traf3	T	G	12: 111,262,036	D560E	probably damaging	Het
Txlnb	A	G	10: 17,799,267	H56R	probably benign	Het
Vmn2r98	A	T	17: 19,066,340	N367Y	probably benign	Het
Vnn3	A	G	10: 23,851,691	I36M	possibly damaging	Het
Zbtb7a	G	A	10: 81,144,440	R156H	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
R5848:Napg	UTSW	18	62994369	missense	possibly damaging	0.49
R5874:Napg	UTSW	18	62978020	nonsense	probably null
R5973:Napg	UTSW	18	62994983	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGATTCTATGGGTCTTCATCTGC -3'
(R):5'- AGTGTGATTTAACTGCACTCAACCC -3'

Sequencing Primer
(F):5'- GTTTCTGACCATGACAGACCTAG -3'
(R):5'- ACCCTCCCAGGTTCACG -3'

Posted On

2016-06-28