Mutagenetix > Incidental Mutations

Incidental Mutation 'R0325:Napg'

65062

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

038535-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R0325 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62977836-62999450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62986963 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 149 (R149C)

Ref Sequence

ENSEMBL: ENSMUSP00000122681 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025474
AA Change: R149C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025474
Gene: ENSMUSG00000024581
AA Change: R149C

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 damaging
Transcript: ENSMUST00000150267
AA Change: R149C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122681
Gene: ENSMUSG00000024581
AA Change: R149C

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

0.4274

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.0%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	T	1: 26,685,266	Q278K	possibly damaging	Het
4933416C03Rik	T	C	10: 116,113,569	I17M	probably damaging	Het
5330417C22Rik	A	G	3: 108,461,251	L808P	probably damaging	Het
Adcyap1	A	G	17: 93,202,832	D96G	probably benign	Het
Adgrv1	C	T	13: 81,540,015	V1749M	probably damaging	Het
Adnp2	A	T	18: 80,130,653	N180K	probably benign	Het
Ahdc1	G	T	4: 133,062,719	A424S	unknown	Het
Alpk3	G	A	7: 81,067,953	R86H	possibly damaging	Het
Atf7ip	A	C	6: 136,560,989	T49P	possibly damaging	Het
Atp7b	G	A	8: 22,028,451	L124F	probably benign	Het
Bub1	A	T	2: 127,801,394	L1010*	probably null	Het
Cd300c	C	A	11: 114,959,585	E131*	probably null	Het
Cep135	A	G	5: 76,615,743	K527E	probably damaging	Het
Cfd	G	T	10: 79,891,758	E89*	probably null	Het
Crb1	A	C	1: 139,241,166	C871W	probably damaging	Het
D6Ertd527e	A	T	6: 87,111,295	S147C	unknown	Het
Ddx60	A	T	8: 61,983,855	E946D	probably benign	Het
Dmrt1	G	A	19: 25,546,007	E241K	probably benign	Het
Dnah11	C	G	12: 118,012,339	V2782L	probably benign	Het
Dzip1	T	C	14: 118,909,557	I313M	probably damaging	Het
Egln3	T	C	12: 54,203,512	E17G	probably benign	Het
Eif3d	A	G	15: 77,968,220	V42A	probably damaging	Het
Eogt	C	A	6: 97,113,955	G408W	probably damaging	Het
Fip1l1	T	A	5: 74,595,842	N498K	probably damaging	Het
Fmn2	T	A	1: 174,609,954		probably null	Het
Fndc3b	T	C	3: 27,467,430	E532G	probably damaging	Het
Gabrb3	T	C	7: 57,765,530	L116P	probably damaging	Het
Galnt6	A	T	15: 100,693,471		probably null	Het
Glmp	G	A	3: 88,325,084	M1I	probably null	Het
Gm13101	A	T	4: 143,966,740	V56E	probably damaging	Het
Gm13124	T	C	4: 144,555,511	Y237C	probably damaging	Het
Gm5478	T	C	15: 101,644,326	D79G	probably damaging	Het
Gnb1	T	G	4: 155,551,683	D153E	probably benign	Het
Grik2	T	C	10: 49,240,725	I86V	probably damaging	Het
Hdac3	C	T	18: 37,940,952		probably null	Het
Hdgfl2	G	A	17: 56,099,181	R523H	possibly damaging	Het
Ifngr1	T	A	10: 19,597,432	N43K	probably damaging	Het
Iqgap1	A	G	7: 80,751,930	W476R	probably benign	Het
Jag1	A	G	2: 137,095,445		probably null	Het
Kars	T	C	8: 112,008,216	D46G	probably benign	Het
Kcnd2	A	G	6: 21,216,683	I129V	probably damaging	Het
Lama3	A	C	18: 12,482,126	D1369A	probably damaging	Het
Lars	A	T	18: 42,250,902	V76E	possibly damaging	Het
Lgals9	T	C	11: 78,963,448	I337V	probably damaging	Het
Lrp1b	T	C	2: 40,851,711	D3068G	probably damaging	Het
Med12l	A	G	3: 59,077,059	T462A	possibly damaging	Het
Megf9	T	A	4: 70,455,941	D286V	probably damaging	Het
Meox1	T	A	11: 101,879,401	S167C	probably damaging	Het
Mier2	C	T	10: 79,542,596		probably null	Het
Mrps2	C	A	2: 28,469,779	T216K	probably damaging	Het
Mto1	A	T	9: 78,453,004	D258V	probably damaging	Het
Mug1	A	T	6: 121,849,842	H208L	probably benign	Het
Myo15b	T	A	11: 115,884,265	I751N	probably damaging	Het
Ndrg4	T	A	8: 95,710,935	M17K	probably damaging	Het
Nfrkb	T	G	9: 31,414,180	M973R	probably benign	Het
Nxph4	C	T	10: 127,526,911	R37H	probably damaging	Het
Oas1e	A	G	5: 120,795,395	I35T	probably damaging	Het
Oc90	C	T	15: 65,897,665		probably null	Het
Olfr1045	G	A	2: 86,198,711	L14F	possibly damaging	Het
Olfr1076	A	T	2: 86,509,205	T249S	probably benign	Het
Olfr1271	A	T	2: 90,265,536	M298K	probably null	Het
Olfr461	A	T	6: 40,544,123	N285K	possibly damaging	Het
Olfr653	A	T	7: 104,580,360	D238V	probably damaging	Het
Papola	T	A	12: 105,807,193	I157N	probably damaging	Het
Pcyox1l	G	C	18: 61,697,893	P303A	possibly damaging	Het
Pkdrej	T	C	15: 85,819,551	N728S	probably benign	Het
Pkp4	A	G	2: 59,318,529	D542G	probably damaging	Het
Pla2g5	C	T	4: 138,800,656	D100N	probably benign	Het
Poln	C	T	5: 34,149,764	R31H	probably benign	Het
Ppp3ca	G	A	3: 136,935,139	A484T	probably benign	Het
Prag1	A	G	8: 36,103,804	T514A	probably benign	Het
Prex2	G	A	1: 11,200,057		probably null	Het
Prrc2b	G	T	2: 32,199,091	W403L	probably damaging	Het
Pter	A	T	2: 13,000,937	K307M	probably damaging	Het
Ptpn5	G	A	7: 47,090,758	S99L	probably benign	Het
Ptpn5	A	C	7: 47,090,759	S99A	probably benign	Het
Rpap1	A	C	2: 119,771,840	H674Q	probably benign	Het
Rph3a	A	T	5: 120,943,064	D623E	probably benign	Het
Sdr9c7	G	T	10: 127,898,719	E25D	probably benign	Het
Sept9	T	G	11: 117,356,632	V479G	probably damaging	Het
Sgo2a	A	G	1: 58,016,697	D680G	probably benign	Het
Sgo2b	A	T	8: 63,928,376	I474N	probably benign	Het
Sgsm1	A	T	5: 113,288,835	I43N	probably damaging	Het
Shprh	G	A	10: 11,170,109	M891I	probably benign	Het
Skiv2l	A	T	17: 34,844,815	Y551N	possibly damaging	Het
Slc12a9	A	G	5: 137,322,846	M469T	probably damaging	Het
Slc4a2	A	T	5: 24,435,943	I747F	probably damaging	Het
Slc7a6	T	A	8: 106,194,517	N373K	probably damaging	Het
Slc7a6os	T	C	8: 106,201,056	D296G	probably benign	Het
Sncaip	A	G	18: 52,905,809	T120A	probably damaging	Het
Sorcs1	G	C	19: 50,313,042		probably null	Het
Spata16	A	G	3: 26,667,456	E42G	probably damaging	Het
Syne2	A	T	12: 75,962,641	M2440L	probably benign	Het
Tead2	A	G	7: 45,225,755	E232G	probably damaging	Het
Tmf1	T	G	6: 97,176,504	T203P	possibly damaging	Het
Trrap	C	A	5: 144,816,395	H1843Q	probably benign	Het
Unc79	C	A	12: 103,171,644	Q2314K	probably damaging	Het
Unc80	G	T	1: 66,510,881	G766V	probably damaging	Het
Vmn1r217	A	G	13: 23,114,594	L46P	probably damaging	Het
Vmn2r80	A	T	10: 79,148,939	I42F	possibly damaging	Het
Vwa5a	T	C	9: 38,728,665	V403A	probably damaging	Het
Zfp42	T	C	8: 43,295,951	E171G	probably damaging	Het
Zfp64	A	T	2: 168,926,040	S551T	probably benign	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
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
R5973:Napg	UTSW	18	62994983	missense	possibly damaging	0.93

Predicted Primers

Posted On

2013-08-08