Incidental Mutation 'IGL02383:Napa'
ID 291477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Napa
Ensembl Gene ENSMUSG00000006024
Gene Name N-ethylmaleimide sensitive fusion protein attachment protein alpha
Synonyms a-SNAP, SNAPA, RA81, hyh, 1500039N14Rik, SNARE
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02383
Quality Score
Status
Chromosome 7
Chromosomal Location 15832383-15851900 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 15846503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006181] [ENSMUST00000127637]
AlphaFold Q9DB05
Predicted Effect probably benign
Transcript: ENSMUST00000006181
SMART Domains Protein: ENSMUSP00000006181
Gene: ENSMUSG00000006024

DomainStartEndE-ValueType
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: ENSMUST00000132828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150208
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 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T C 6: 133,269,205 (GRCm39) probably benign Het
Adap2 C A 11: 80,051,015 (GRCm39) A115D probably damaging Het
Ankrd1 A G 19: 36,097,165 (GRCm39) V6A probably benign Het
Apobr T A 7: 126,185,779 (GRCm39) V430E probably benign Het
Arhgap28 A G 17: 68,203,084 (GRCm39) V123A probably benign Het
Atp2b2 A G 6: 113,790,903 (GRCm39) V167A probably damaging Het
B3galnt2 A T 13: 14,171,618 (GRCm39) *505C probably null Het
Bcat2 T A 7: 45,237,431 (GRCm39) L305Q probably damaging Het
Coa8 T A 12: 111,690,847 (GRCm39) probably benign Het
Col9a1 T C 1: 24,224,339 (GRCm39) S174P unknown Het
Ddx41 A T 13: 55,680,170 (GRCm39) D418E probably benign Het
Defa40 A G 8: 21,740,377 (GRCm39) D61G probably damaging Het
Exoc6 T C 19: 37,566,922 (GRCm39) F240L probably benign Het
Fbln7 G A 2: 128,737,477 (GRCm39) V431I probably benign Het
Gfral T A 9: 76,104,374 (GRCm39) N213Y probably damaging Het
Golgb1 A G 16: 36,706,562 (GRCm39) D22G probably benign Het
H2-M1 G A 17: 36,981,141 (GRCm39) T298I unknown Het
Haus3 A T 5: 34,323,580 (GRCm39) Y343* probably null Het
Hid1 T C 11: 115,243,446 (GRCm39) E534G probably damaging Het
Il4ra T C 7: 125,170,676 (GRCm39) V196A probably benign Het
Itm2b C A 14: 73,600,536 (GRCm39) E255* probably null Het
Kidins220 A T 12: 25,047,332 (GRCm39) probably benign Het
Klhl22 T A 16: 17,594,762 (GRCm39) F297Y possibly damaging Het
Krt9 T C 11: 100,082,041 (GRCm39) E253G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Map3k6 T A 4: 132,973,932 (GRCm39) probably null Het
Med29 C A 7: 28,086,448 (GRCm39) R120L possibly damaging Het
Ncapd3 T A 9: 26,961,624 (GRCm39) Y351N probably benign Het
Nphs1 C T 7: 30,181,060 (GRCm39) probably benign Het
Or5b94 A G 19: 12,651,899 (GRCm39) D110G probably benign Het
Prss16 T C 13: 22,193,697 (GRCm39) I33V probably benign Het
Ripk1 A G 13: 34,199,227 (GRCm39) Y193C probably damaging Het
Rph3a C T 5: 121,102,002 (GRCm39) R78H probably damaging Het
Rrp9 T A 9: 106,362,471 (GRCm39) I452N probably damaging Het
Ryr2 A T 13: 11,737,607 (GRCm39) probably benign Het
Sec23a A G 12: 59,048,813 (GRCm39) L103P probably damaging Het
Slc17a9 A C 2: 180,377,674 (GRCm39) D190A probably benign Het
Slc44a4 G A 17: 35,146,686 (GRCm39) V422I probably benign Het
Smc5 C T 19: 23,191,996 (GRCm39) probably benign Het
Tax1bp1 C T 6: 52,730,351 (GRCm39) S611F probably benign Het
Tmem38b G A 4: 53,854,345 (GRCm39) M192I probably benign Het
Unc45a G T 7: 79,989,410 (GRCm39) C34* probably null Het
Usp46 T A 5: 74,190,014 (GRCm39) M6L probably benign Het
Uspl1 G A 5: 149,150,212 (GRCm39) V471M probably damaging Het
Vmn1r35 T A 6: 66,655,875 (GRCm39) Q265L probably damaging Het
Vmn1r35 G T 6: 66,655,876 (GRCm39) Q265K probably damaging Het
Vmn1r50 A G 6: 90,084,461 (GRCm39) I69V possibly damaging Het
Vps33b A G 7: 79,935,082 (GRCm39) probably null Het
Xntrpc A C 7: 101,742,802 (GRCm39) D604A probably damaging Het
Yeats4 T A 10: 117,051,716 (GRCm39) R180S probably benign Het
Other mutations in Napa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01760:Napa APN 7 15,832,669 (GRCm39) missense possibly damaging 0.66
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
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
Posted On 2015-04-16