Mutagenetix > Incidental Mutations

Incidental Mutation 'R0751:Napg'

70365

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

038931-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R0751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62977836-62999450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 62994338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 204 (H204Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025474 (fasta)

Gene Model

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

AlphaFold

Q9CWZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000025474
AA Change: H204Q

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000025474
Gene: ENSMUSG00000024581
AA Change: H204Q

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 benign
Transcript: ENSMUST00000150267
AA Change: H254Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122681
Gene: ENSMUSG00000024581
AA Change: H254Q

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

0.0749

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	A	4: 133,065,396	M1316K	probably benign	Het
Alox12	T	C	11: 70,246,950	I455V	probably benign	Het
Ankrd28	A	G	14: 31,764,268	L89P	probably damaging	Het
Aqp9	A	T	9: 71,138,205	C41S	probably damaging	Het
Arhgap17	T	C	7: 123,314,690	Y199C	probably damaging	Het
Aspm	A	T	1: 139,456,898		probably benign	Het
Cacfd1	T	C	2: 27,018,981		probably null	Het
Cd33	T	C	7: 43,532,121	D205G	probably damaging	Het
Chadl	T	C	15: 81,693,057	S198G	probably benign	Het
Chtf8	A	G	8: 106,886,477		probably null	Het
Clec4a4	G	T	6: 123,012,712	W104L	probably benign	Het
Clock	A	T	5: 76,229,361	I696K	possibly damaging	Het
Crtc2	T	A	3: 90,262,633	Y445*	probably null	Het
Dapk1	A	T	13: 60,696,298	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,449,841		probably null	Het
Derl2	T	C	11: 71,014,547		probably null	Het
Dnah7c	A	G	1: 46,465,905	T154A	probably benign	Het
Dnmt3b	T	A	2: 153,674,842		probably null	Het
Dusp3	A	T	11: 101,981,728	S106T	probably benign	Het
Eftud2	A	G	11: 102,839,253	V897A	probably damaging	Het
Eif3l	T	A	15: 79,075,766		probably null	Het
Fbxo33	A	C	12: 59,219,092	F130V	probably damaging	Het
Ffar3	T	A	7: 30,855,104	N264Y	probably damaging	Het
Fig4	T	C	10: 41,272,982	D158G	probably damaging	Het
Fyco1	A	G	9: 123,819,153	F1239L	probably damaging	Het
Gabra2	A	G	5: 71,092,099		probably benign	Het
Gabra6	C	A	11: 42,315,017	R336S	probably benign	Het
Gm9268	A	G	7: 43,047,409	Y630C	probably damaging	Het
Hkdc1	T	C	10: 62,398,673	D581G	probably damaging	Het
Iqgap1	A	G	7: 80,725,573		probably benign	Het
Larp4b	T	C	13: 9,166,309		probably benign	Het
Lcp1	A	T	14: 75,199,387	M58L	probably benign	Het
Lrrc8a	T	C	2: 30,256,350	V392A	possibly damaging	Het
Mavs	A	T	2: 131,246,764	Y496F	probably damaging	Het
Mpi	A	T	9: 57,550,614	S102T	probably damaging	Het
Mroh9	G	A	1: 163,066,124	R161W	possibly damaging	Het
Myo1h	A	T	5: 114,320,686	S161C	probably damaging	Het
Nelfcd	C	A	2: 174,423,014	A182D	probably benign	Het
Ntsr2	G	T	12: 16,654,030	K91N	probably damaging	Het
Obscn	A	G	11: 59,081,819	S2134P	probably damaging	Het
Ogfod2	G	A	5: 124,113,476		probably benign	Het
Olfr385	G	T	11: 73,589,144	T198K	probably benign	Het
Olfr525	G	A	7: 140,323,325	V209I	probably benign	Het
Pcdha8	T	C	18: 36,994,070	V535A	probably damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pik3r1	T	C	13: 101,686,358		probably null	Het
Pimreg	C	A	11: 72,043,113	Q22K	probably benign	Het
Pld5	A	G	1: 176,044,896	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,831,333		probably benign	Het
Ppip5k2	A	T	1: 97,749,652	C306*	probably null	Het
Ptprc	A	G	1: 138,092,930	Y588H	probably damaging	Het
Rac2	T	G	15: 78,565,945	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,977,380		probably null	Het
Serpinb1a	T	C	13: 32,843,216	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,259,774	E259A	probably benign	Het
Slc12a4	A	T	8: 105,951,900	V266E	probably damaging	Het
Slc8b1	A	G	5: 120,524,195		probably benign	Het
Smim4	G	T	14: 31,088,996		probably benign	Het
Spink6	T	C	18: 44,071,538		probably benign	Het
Spta1	G	A	1: 174,184,690	R354H	probably damaging	Het
Ssb	T	A	2: 69,870,565	S330T	probably benign	Het
Stard9	G	T	2: 120,697,485	V1408F	probably benign	Het
Sumf2	A	T	5: 129,850,005	T61S	probably benign	Het
Sypl2	T	C	3: 108,216,756	T157A	probably damaging	Het
Tgfbr3	A	T	5: 107,139,883	D483E	probably damaging	Het
Tnrc6a	A	G	7: 123,170,340	N451S	possibly damaging	Het
Tradd	T	C	8: 105,259,771	E123G	probably damaging	Het
Trim36	T	C	18: 46,196,251	T41A	probably damaging	Het
Ttc30a2	C	T	2: 75,978,031	A46T	probably damaging	Het
Ttll7	C	T	3: 146,939,991	P535S	probably damaging	Het
Ubr4	C	T	4: 139,437,198		probably benign	Het
Vmn1r195	A	G	13: 22,279,011	Y217C	probably damaging	Het
Vmn2r63	A	C	7: 42,928,035	F360V	probably damaging	Het
Vmn2r78	G	A	7: 86,954,380	V589M	possibly damaging	Het
Vrk2	A	G	11: 26,483,331		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
R0325:Napg	UTSW	18	62986963	missense	probably damaging	1.00
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

PCR Primer
(F):5'- TCAGGCCAGTAACACCAGTGTCAG -3'
(R):5'- TCACACAACCCTGCAATGGTAGTC -3'

Sequencing Primer
(F):5'- CTCCCAGGTGTCCTTTAGAAG -3'
(R):5'- CAATGGTAGTCTTACCTCTTGGAAG -3'

Posted On

2013-09-30