Mutagenetix > Incidental Mutations

Incidental Mutation 'R1387:Napg'

162466

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

039449-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R1387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62977836-62999450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62986212 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 98 (I98V)

Ref Sequence

ENSEMBL: ENSMUSP00000025474 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025474
AA Change: I98V

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025474
Gene: ENSMUSG00000024581
AA Change: I98V

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

noncoding transcript
Transcript: ENSMUST00000133593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137849

Predicted Effect

probably benign
Transcript: ENSMUST00000150267
AA Change: I98V

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122681
Gene: ENSMUSG00000024581
AA Change: I98V

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

Meta Mutation Damage Score

0.0958

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.4%

Validation Efficiency

99% (82/83)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	T	A	9: 98,186,759		noncoding transcript	Het
4930447C04Rik	C	A	12: 72,915,434	R52L	probably benign	Het
9930021J03Rik	A	G	19: 29,723,453	I812T	probably benign	Het
Abca13	C	T	11: 9,682,085	Q5002*	probably null	Het
Acacb	T	C	5: 114,200,512	I761T	probably benign	Het
Acap3	G	T	4: 155,899,480	L134F	probably benign	Het
Adamtsl1	T	C	4: 86,374,993		probably benign	Het
Adgrv1	A	G	13: 81,493,176	V3278A	possibly damaging	Het
Agxt2	T	C	15: 10,380,610	Y196H	probably damaging	Het
Akap13	T	C	7: 75,586,193	V172A	probably damaging	Het
Aqp8	A	G	7: 123,466,668	I229V	probably benign	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Cacng8	T	C	7: 3,415,156	S275P	possibly damaging	Het
Catsperg1	T	C	7: 29,206,864	Y138C	probably damaging	Het
Ccdc93	T	G	1: 121,491,189	L491R	probably damaging	Het
Cntnap2	T	C	6: 47,107,914	V1103A	probably benign	Het
Col12a1	C	T	9: 79,681,375		probably benign	Het
Col6a3	A	G	1: 90,822,416		probably benign	Het
Csf2rb2	C	T	15: 78,298,214	A6T	probably damaging	Het
Cyp2j5	T	A	4: 96,634,285	S351C	probably damaging	Het
Cyth1	A	G	11: 118,182,346		probably benign	Het
Dock2	A	G	11: 34,273,309		probably benign	Het
Duoxa1	T	A	2: 122,303,987	I262F	possibly damaging	Het
Dync2h1	T	C	9: 7,125,816	D1930G	probably benign	Het
Elmsan1	C	A	12: 84,152,931	R1005L	probably damaging	Het
Eno1	C	T	4: 150,248,133		probably benign	Het
Fam102a	T	C	2: 32,565,623	S254P	possibly damaging	Het
Fam98a	T	A	17: 75,538,269	H494L	unknown	Het
Fcamr	C	A	1: 130,804,642	T122K	possibly damaging	Het
Foxq1	A	G	13: 31,559,305	D130G	probably damaging	Het
Glb1	T	A	9: 114,420,363	W5R	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709		noncoding transcript	Het
Gm5431	T	A	11: 48,895,015	R178W	possibly damaging	Het
Gys2	C	T	6: 142,461,283	V116M	probably benign	Het
Hif1a	C	T	12: 73,942,292	T651I	possibly damaging	Het
Itgb5	T	A	16: 33,900,515	Y3*	probably null	Het
Kank3	A	G	17: 33,816,231	N7S	possibly damaging	Het
Kdm2b	G	T	5: 122,880,268	H981Q	probably damaging	Het
Kdm6a	C	T	X: 18,253,996		probably benign	Het
Kif1a	A	T	1: 93,055,950		probably benign	Het
Knl1	T	A	2: 119,070,730	S971T	possibly damaging	Het
Lcn6	T	C	2: 25,677,137	V50A	possibly damaging	Het
Llgl2	G	T	11: 115,853,132	V762F	probably damaging	Het
Lpcat4	T	C	2: 112,244,676	F342L	probably benign	Het
Lrp2	C	A	2: 69,456,918	G3725V	probably damaging	Het
Map1b	T	C	13: 99,432,650	T1188A	unknown	Het
Mecp2	G	A	X: 74,035,788	P362S	possibly damaging	Het
Mmp13	T	A	9: 7,282,033	F445Y	possibly damaging	Het
Myo5b	G	T	18: 74,644,201		probably benign	Het
Myo7b	A	G	18: 31,983,752		probably benign	Het
Nadk2	C	A	15: 9,106,782	L384I	possibly damaging	Het
Ncoa1	G	T	12: 4,274,790	N1041K	probably benign	Het
Nmu	A	T	5: 76,350,145	C64*	probably null	Het
Nobox	T	A	6: 43,307,198	K13M	probably damaging	Het
Nos1	T	C	5: 117,953,783		probably benign	Het
Nrg2	A	G	18: 36,196,739	V141A	probably damaging	Het
Olfr170	T	C	16: 19,606,027	I214V	probably damaging	Het
Olfr362	T	G	2: 37,104,868	I261L	probably benign	Het
Olfr544	T	A	7: 102,484,704	I139L	probably benign	Het
Phldb2	C	T	16: 45,825,994	E71K	possibly damaging	Het
Pik3r4	T	A	9: 105,644,291	Y19N	probably damaging	Het
Pkhd1	A	C	1: 20,555,223		probably benign	Het
Pogk	G	T	1: 166,400,138	P148Q	possibly damaging	Het
Pten	G	T	19: 32,798,096	A79S	probably benign	Het
Ptpdc1	A	T	13: 48,586,320	V545E	possibly damaging	Het
Qdpr	G	C	5: 45,450,138		probably benign	Het
Rhbdd3	T	A	11: 5,104,121	H83Q	probably damaging	Het
Rnf6	A	G	5: 146,211,245	V321A	probably benign	Het
Rtf1	T	A	2: 119,705,645		probably null	Het
Serpina10	C	T	12: 103,628,241	V240I	probably benign	Het
Siah2	A	G	3: 58,691,514	V101A	possibly damaging	Het
Taok3	A	G	5: 117,206,655	K46R	probably damaging	Het
Tcaf2	A	C	6: 42,624,578	L849R	probably damaging	Het
Upf3a	T	C	8: 13,792,118	F178S	probably damaging	Het
Vmn1r218	G	A	13: 23,137,308	G195D	probably damaging	Het
Vmn2r59	A	G	7: 42,046,097	V297A	probably damaging	Het
Vmn2r70	T	A	7: 85,558,761	Q836L	probably benign	Het
Zfp473	A	G	7: 44,732,941	V655A	probably benign	Het
Zic5	A	G	14: 122,459,485	S573P	unknown	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
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
R5973:Napg	UTSW	18	62994983	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TATAGAGACAGCTCTGGCGTGGCCC -3'
(R):5'- GCCTGAATCAGACAGAGAGCACAGC -3'

Sequencing Primer
(F):5'- aggaagccatgacacagaac -3'
(R):5'- CCTGTGTGAGAATTAAGACACTG -3'

Posted On

2014-03-17