Mutagenetix > Incidental Mutation

Incidental Mutation 'R6335:Napa'

512903

Institutional Source

Beutler Lab

Gene Symbol

Napa

Ensembl Gene

ENSMUSG00000006024

Gene Name

N-ethylmaleimide sensitive fusion protein attachment protein alpha

Synonyms

a-SNAP, SNAPA, RA81, hyh, 1500039N14Rik, SNARE

MMRRC Submission

044489-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6335 (G1)

Quality Score

210.009

Status

Validated

Chromosome

Chromosomal Location

15832383-15851900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15849562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 258 (S258I)

Ref Sequence

ENSEMBL: ENSMUSP00000006181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006178] [ENSMUST00000006181] [ENSMUST00000127637]

AlphaFold

Q9DB05

Predicted Effect

probably benign
Transcript: ENSMUST00000006178

SMART Domains

Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021

Domain	Start	End	E-Value	Type
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000006181
AA Change: S258I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000006181
Gene: ENSMUSG00000006024
AA Change: S258I

Domain	Start	End	E-Value	Type
Pfam:SNAP	8	288	4.5e-113	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124563

Predicted Effect

probably benign
Transcript: ENSMUST00000127637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149388

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: The homozygous null mutation is embryonic lethal while partial loss of function homozygous mutants develop hydrocephalus and die postnatally. These mutants also display central nervous system abnormalities and impaired motor capabilities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11a	T	C	8: 12,909,481 (GRCm39)		probably null	Het
Best3	G	T	10: 116,838,556 (GRCm39)	V205F	probably benign	Het
C1qtnf1	A	G	11: 118,338,960 (GRCm39)	H210R	probably damaging	Het
Camkv	T	C	9: 107,823,894 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,849 (GRCm39)	D1200E	possibly damaging	Het
Cep192	T	A	18: 67,967,784 (GRCm39)	I756N	probably damaging	Het
Crocc2	A	T	1: 93,130,560 (GRCm39)	Q947L	probably benign	Het
Dcaf1	A	G	9: 106,715,845 (GRCm39)	T321A	possibly damaging	Het
Dgkz	T	C	2: 91,774,724 (GRCm39)	M87V	probably benign	Het
Dmrt2	T	A	19: 25,650,935 (GRCm39)	S40R	possibly damaging	Het
Dpep1	T	G	8: 123,927,391 (GRCm39)	L315R	probably damaging	Het
Fam221b	G	T	4: 43,665,942 (GRCm39)	T223N	possibly damaging	Het
Fasn	A	T	11: 120,706,185 (GRCm39)	V1053E	probably damaging	Het
Galc	T	C	12: 98,208,973 (GRCm39)	D227G	probably damaging	Het
Grik1	A	G	16: 87,744,794 (GRCm39)	L486P	probably damaging	Het
Grik5	A	G	7: 24,713,019 (GRCm39)	S836P	probably benign	Het
Grpel2	T	C	18: 61,852,792 (GRCm39)	K70R	possibly damaging	Het
Ipo7	A	G	7: 109,617,675 (GRCm39)	D15G	possibly damaging	Het
Iqgap1	A	G	7: 80,377,772 (GRCm39)	Y1284H	probably damaging	Het
Lmo7	T	C	14: 102,138,072 (GRCm39)	S692P	probably damaging	Het
Mecom	A	G	3: 30,034,905 (GRCm39)	L447P	probably damaging	Het
Mtor	A	G	4: 148,550,384 (GRCm39)	D680G	probably damaging	Het
Muc16	T	A	9: 18,572,004 (GRCm39)	I172F	unknown	Het
Musk	A	G	4: 58,366,811 (GRCm39)	I476M	probably benign	Het
Myef2	T	C	2: 124,951,632 (GRCm39)	T268A	probably damaging	Het
Naip1	A	G	13: 100,563,060 (GRCm39)	S702P	probably damaging	Het
Nfasc	T	A	1: 132,504,132 (GRCm39)	I1039F	probably damaging	Het
Nlrc5	A	G	8: 95,228,902 (GRCm39)	S1238G	probably benign	Het
Or10q12	T	C	19: 13,746,144 (GRCm39)	V146A	probably benign	Het
Or1j12	A	G	2: 36,342,734 (GRCm39)	I46V	probably benign	Het
Or5w8	T	A	2: 87,687,811 (GRCm39)	C97*	probably null	Het
Pacs1	G	T	19: 5,210,005 (GRCm39)	N215K	probably damaging	Het
Parp10	A	G	15: 76,126,388 (GRCm39)	S267P	probably benign	Het
Pbrm1	G	T	14: 30,806,052 (GRCm39)	C995F	probably damaging	Het
Pcdh7	A	T	5: 58,099,607 (GRCm39)		probably null	Het
Ppef2	T	C	5: 92,383,613 (GRCm39)	Y499C	probably damaging	Het
Pramel16	G	T	4: 143,675,602 (GRCm39)	T408K	probably benign	Het
Prex2	A	C	1: 11,180,544 (GRCm39)	I370L	probably benign	Het
Ptprd	A	G	4: 75,872,420 (GRCm39)	Y1350H	probably damaging	Het
Rasgrp1	T	C	2: 117,124,351 (GRCm39)	K284E	probably damaging	Het
Rexo1	A	T	10: 80,379,915 (GRCm39)	Y23N	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sash3	C	T	X: 47,248,398 (GRCm39)	L307F	probably damaging	Homo
Scn9a	T	A	2: 66,398,608 (GRCm39)	M1L	possibly damaging	Het
Serpinb6e	C	A	13: 34,021,805 (GRCm39)	L174F	probably benign	Het
Siae	C	T	9: 37,544,277 (GRCm39)	T275I	probably benign	Het
Sptbn5	C	A	2: 119,884,900 (GRCm39)		probably benign	Het
Ss18l2	C	T	9: 121,541,672 (GRCm39)	T55I	probably damaging	Het
Taf1c	A	G	8: 120,328,518 (GRCm39)	C163R	probably damaging	Het
Tanc2	C	T	11: 105,748,382 (GRCm39)	R505W	probably damaging	Het
Tango6	C	A	8: 107,419,308 (GRCm39)	P285Q	possibly damaging	Het
Tdrd9	G	T	12: 112,008,186 (GRCm39)		probably null	Het
Tead3	A	T	17: 28,552,299 (GRCm39)	L307H	probably damaging	Het
Ticrr	A	C	7: 79,344,031 (GRCm39)		probably null	Het
Trpc4	T	C	3: 54,224,995 (GRCm39)		probably null	Het
Upb1	A	T	10: 75,264,135 (GRCm39)	T194S	probably benign	Het
Vav3	A	G	3: 109,470,512 (GRCm39)	N566S	probably benign	Het
Vmn1r196	T	A	13: 22,477,887 (GRCm39)	S175R	probably benign	Het
Zscan29	T	C	2: 120,991,917 (GRCm39)	N589D	possibly damaging	Het

Other mutations in Napa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01760:Napa	APN	7	15,832,669 (GRCm39)	missense	possibly damaging	0.66
IGL02383:Napa	APN	7	15,846,503 (GRCm39)	splice site	probably benign
IGL02968:Napa	APN	7	15,847,266 (GRCm39)	splice site	probably benign
R0782:Napa	UTSW	7	15,849,192 (GRCm39)	missense	probably benign	0.00
R2067:Napa	UTSW	7	15,849,203 (GRCm39)	unclassified	probably benign
R2115:Napa	UTSW	7	15,848,134 (GRCm39)	missense	possibly damaging	0.91
R2360:Napa	UTSW	7	15,848,083 (GRCm39)	missense	probably damaging	1.00
R4762:Napa	UTSW	7	15,849,196 (GRCm39)	missense	probably benign	0.22
R5386:Napa	UTSW	7	15,850,397 (GRCm39)	missense	probably benign	0.01
R5503:Napa	UTSW	7	15,849,549 (GRCm39)	missense	probably benign	0.07
R6939:Napa	UTSW	7	15,849,182 (GRCm39)	missense	possibly damaging	0.94
R6961:Napa	UTSW	7	15,843,034 (GRCm39)	nonsense	probably null
R7841:Napa	UTSW	7	15,849,559 (GRCm39)	missense	possibly damaging	0.94
R8809:Napa	UTSW	7	15,846,551 (GRCm39)	missense	possibly damaging	0.46
X0025:Napa	UTSW	7	15,849,137 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTACAGTTAACGCAGGGACC -3'
(R):5'- TCAAGTAGGGCAGAGTCTTTTG -3'

Sequencing Primer
(F):5'- TTAACGCAGGGACCGTGGAG -3'
(R):5'- AACTTGTTCTGTAGACCAGGCTGAC -3'

Posted On

2018-04-27