Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02742:Napg'

305947

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Napg

Ensembl Gene

ENSMUSG00000024581

Gene Name

N-ethylmaleimide sensitive fusion protein attachment protein gamma

Synonyms

2400003O04Rik, SNARE

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL02742

Quality Score

Status

Chromosome

Chromosomal Location

62977836-62999450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62986248 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 110 (T110S)

Ref Sequence

ENSEMBL: ENSMUSP00000025474 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025474
AA Change: T110S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025474
Gene: ENSMUSG00000024581
AA Change: T110S

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

possibly damaging
Transcript: ENSMUST00000150267
AA Change: T110S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122681
Gene: ENSMUSG00000024581
AA Change: T110S

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,095,625	T506A	probably damaging	Het
AI314180	A	G	4: 58,840,757	V667A	probably damaging	Het
Ankib1	A	C	5: 3,693,479	D845E	probably benign	Het
Atxn2	T	C	5: 121,781,336	V369A	possibly damaging	Het
Ccdc50	T	A	16: 27,406,784		probably benign	Het
Clec2g	A	G	6: 128,980,261	I61V	possibly damaging	Het
Col16a1	G	A	4: 130,061,379		probably benign	Het
Dapk2	A	G	9: 66,231,814	Y139C	probably damaging	Het
Fnip1	T	C	11: 54,493,351	L334P	probably damaging	Het
Igf1r	A	G	7: 68,189,991	E682G	possibly damaging	Het
Ints8	T	C	4: 11,241,627	E272G	possibly damaging	Het
Jph2	G	A	2: 163,375,779	P326S	probably damaging	Het
Krtap1-4	T	C	11: 99,583,114		probably benign	Het
Lrp5	A	G	19: 3,604,022	I1135T	probably damaging	Het
Lrrk1	A	G	7: 66,308,691	V320A	probably benign	Het
Myh6	A	C	14: 54,953,924	I820S	possibly damaging	Het
Nova1	G	A	12: 46,720,692	Q56*	probably null	Het
Phyhip	A	G	14: 70,461,927		probably null	Het
Pkd2l2	C	A	18: 34,416,917	S205*	probably null	Het
Ppp2r1a	G	T	17: 20,959,003	C101F	probably benign	Het
Serpinb3c	G	A	1: 107,273,142	R182*	probably null	Het
St18	A	C	1: 6,802,316		probably benign	Het
St6galnac4	C	T	2: 32,597,084	R264C	possibly damaging	Het
Tmem168	T	C	6: 13,603,262	Y35C	probably benign	Het
Tmem219	A	G	7: 126,897,048	L74P	probably damaging	Het
Trpc4	T	A	3: 54,299,246	N622K	probably damaging	Het
Trpm6	A	C	19: 18,830,012		probably benign	Het
Ttl	C	A	2: 129,066,293	F49L	possibly damaging	Het
Vmn1r123	A	T	7: 21,163,043	I287F	possibly damaging	Het
Vmn2r97	T	G	17: 18,929,170	I273M	probably damaging	Het
Wdr5	C	A	2: 27,520,425		probably benign	Het
Zcchc6	C	T	13: 59,816,342	D250N	probably damaging	Het
Zfp37	C	A	4: 62,192,311	C172F	possibly 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
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
R5973:Napg	UTSW	18	62994983	missense	possibly damaging	0.93

Posted On

2015-04-16