Mutagenetix > Incidental Mutation

Incidental Mutation 'R4762:Napa'

426195

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

042403-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4762 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15832383-15851900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15849196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 245 (K245N)

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: K245N

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000006181
Gene: ENSMUSG00000006024
AA Change: K245N

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: ENSMUST00000150208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149388

Meta Mutation Damage Score

0.0804

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	T	C	1: 158,797,126 (GRCm39)		noncoding transcript	Het
2310030G06Rik	T	C	9: 50,651,967 (GRCm39)	E87G	probably damaging	Het
Aknad1	A	T	3: 108,682,547 (GRCm39)	H541L	possibly damaging	Het
Asb15	A	G	6: 24,567,236 (GRCm39)	E519G	possibly damaging	Het
Atad2	T	C	15: 57,971,758 (GRCm39)	D373G	probably benign	Het
Bbs12	G	A	3: 37,374,529 (GRCm39)	V326M	probably damaging	Het
Birc6	T	C	17: 74,936,484 (GRCm39)	I2617T	probably damaging	Het
Brca2	A	G	5: 150,454,581 (GRCm39)	T115A	probably benign	Het
Casz1	T	C	4: 149,023,438 (GRCm39)	L495P	probably damaging	Het
Ccdc30	T	A	4: 119,190,785 (GRCm39)	I481F	probably damaging	Het
Cept1	A	T	3: 106,446,677 (GRCm39)	Y56*	probably null	Het
Cfap54	A	C	10: 92,897,315 (GRCm39)		probably null	Het
Cyp2j8	G	T	4: 96,358,886 (GRCm39)	D344E	probably damaging	Het
Dido1	A	T	2: 180,331,368 (GRCm39)	W27R	probably damaging	Het
Disp3	A	G	4: 148,356,575 (GRCm39)	I95T	probably damaging	Het
Engase	G	T	11: 118,377,920 (GRCm39)	V237F	possibly damaging	Het
Ephb6	G	A	6: 41,595,094 (GRCm39)	E703K	probably damaging	Het
Fnip1	T	A	11: 54,356,997 (GRCm39)	F35L	probably damaging	Het
Fnip1	A	T	11: 54,390,352 (GRCm39)	T440S	probably benign	Het
Fras1	T	A	5: 96,879,477 (GRCm39)	H2431Q	probably benign	Het
Fzd4	A	T	7: 89,056,924 (GRCm39)	T324S	probably damaging	Het
Gm10192	C	G	4: 97,071,345 (GRCm39)	S20T	probably null	Het
Gpr84	A	T	15: 103,217,027 (GRCm39)	V350E	probably damaging	Het
Gsto2	T	C	19: 47,863,312 (GRCm39)	Y63H	probably damaging	Het
Gtpbp6	T	C	5: 110,252,186 (GRCm39)	T449A	probably damaging	Het
Herc2	G	A	7: 55,820,388 (GRCm39)	V2876I	probably benign	Het
Hnrnpa3	A	G	2: 75,492,351 (GRCm39)	I152V	possibly damaging	Het
Hpse2	T	C	19: 42,777,510 (GRCm39)	D552G	possibly damaging	Het
Itfg1	A	G	8: 86,459,070 (GRCm39)	V460A	possibly damaging	Het
Jhy	G	A	9: 40,822,494 (GRCm39)	A548V	probably benign	Het
Klhl21	T	A	4: 152,094,268 (GRCm39)	L290Q	possibly damaging	Het
Knl1	T	C	2: 118,902,417 (GRCm39)	S1373P	probably benign	Het
Kpna2	A	C	11: 106,881,085 (GRCm39)	M426R	probably benign	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Lpar1	T	G	4: 58,437,346 (GRCm39)	H361P	possibly damaging	Het
Macf1	T	C	4: 123,349,237 (GRCm39)	T2100A	probably benign	Het
Mfsd13b	T	C	7: 120,590,549 (GRCm39)	F97L	probably damaging	Het
Mmp15	A	G	8: 96,098,958 (GRCm39)	K595R	probably benign	Het
Mrps25	C	T	6: 92,152,085 (GRCm39)	G145D	probably damaging	Het
Muc4	T	A	16: 32,574,916 (GRCm39)		probably benign	Het
Or10p1	C	A	10: 129,444,043 (GRCm39)	M102I	probably damaging	Het
Or14c39	A	G	7: 86,344,329 (GRCm39)	T222A	probably benign	Het
Or2y1c	A	T	11: 49,361,112 (GRCm39)	I45F	probably damaging	Het
Or4g17	G	A	2: 111,210,082 (GRCm39)	V246M	probably damaging	Het
Or4k39	T	A	2: 111,239,225 (GRCm39)		noncoding transcript	Het
Or5au1	T	A	14: 52,272,921 (GRCm39)	I216F	possibly damaging	Het
Or8c20	A	G	9: 38,260,577 (GRCm39)	Y60C	probably damaging	Het
Or8k35	A	G	2: 86,424,381 (GRCm39)	S264P	possibly damaging	Het
Papss2	A	T	19: 32,616,378 (GRCm39)	T195S	probably benign	Het
Parp4	T	A	14: 56,848,267 (GRCm39)	H694Q	probably damaging	Het
Patj	C	T	4: 98,293,807 (GRCm39)	R20*	probably null	Het
Pcdhgb8	T	A	18: 37,895,419 (GRCm39)	V163E	probably damaging	Het
Pkd2l1	T	A	19: 44,144,060 (GRCm39)	T338S	probably benign	Het
Ppargc1b	A	T	18: 61,444,328 (GRCm39)	S278R	possibly damaging	Het
Ppl	T	C	16: 4,906,846 (GRCm39)	T1150A	probably benign	Het
Ralgds	A	G	2: 28,442,164 (GRCm39)	D858G	probably damaging	Het
Rassf2	G	A	2: 131,844,783 (GRCm39)		probably benign	Het
Ring1	T	C	17: 34,240,971 (GRCm39)		probably benign	Het
Rusc1	A	C	3: 88,998,949 (GRCm39)	S278A	probably benign	Het
Samd9l	T	C	6: 3,375,623 (GRCm39)	N546S	probably benign	Het
Sct	A	C	7: 140,858,954 (GRCm39)		probably benign	Het
Slc22a12	T	G	19: 6,588,474 (GRCm39)	H348P	probably benign	Het
Slc25a15	A	G	8: 22,873,248 (GRCm39)	S143P	probably damaging	Het
Slc26a11	C	A	11: 119,247,657 (GRCm39)		probably benign	Het
Slc6a20b	A	G	9: 123,427,625 (GRCm39)	M428T	probably damaging	Het
Smim17	G	A	7: 6,432,321 (GRCm39)	V88M	probably damaging	Het
Smoc1	G	T	12: 81,214,425 (GRCm39)	W269L	probably damaging	Het
Sox5	C	T	6: 143,807,109 (GRCm39)		probably null	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
Sptbn5	T	A	2: 119,907,703 (GRCm39)		noncoding transcript	Het
Sun5	G	A	2: 153,707,283 (GRCm39)	R132*	probably null	Het
Tedc2	A	G	17: 24,435,354 (GRCm39)	V345A	probably benign	Het
Tlr6	T	A	5: 65,111,739 (GRCm39)	R389S	probably benign	Het
Ttc17	G	T	2: 94,202,113 (GRCm39)	H396Q	probably damaging	Het
Ttn	A	G	2: 76,773,383 (GRCm39)	S2340P	probably damaging	Het
Vmn1r219	C	T	13: 23,346,999 (GRCm39)	Q63*	probably null	Het
Vmn1r224	A	G	17: 20,639,902 (GRCm39)	T160A	possibly damaging	Het
Vmn2r11	T	C	5: 109,195,436 (GRCm39)	N630S	probably damaging	Het
Zfp1005	T	A	2: 150,109,549 (GRCm39)	C80S	possibly damaging	Het
Zfp747	A	G	7: 126,973,498 (GRCm39)	V224A	possibly damaging	Het
Zfp804b	T	C	5: 6,822,250 (GRCm39)	N271S	probably benign	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
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
R6335:Napa	UTSW	7	15,849,562 (GRCm39)	missense	probably benign	0.01
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'- GCAGTAGGCTCTTTTGCATC -3'
(R):5'- GTCCCTGCGTTAACTGTACTTG -3'

Sequencing Primer
(F):5'- ATGCCTGGAAAGCCTGC -3'
(R):5'- ACTTGTTTCAGGTAGAGAACTGAGC -3'

Posted On

2016-08-17