Incidental Mutation 'IGL01820:Napg'
ID 154494
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
Essential gene? Probably essential (E-score: 0.946) question?
Stock # IGL01820
Quality Score
Status
Chromosome 18
Chromosomal Location 63110910-63132521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 63119516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 135 (Q135K)
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: Q135K

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025474
Gene: ENSMUSG00000024581
AA Change: Q135K

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000150267
AA Change: Q135K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122681
Gene: ENSMUSG00000024581
AA Change: Q135K

DomainStartEndE-ValueType
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,765,896 (GRCm39) probably benign Het
Adcy2 T C 13: 68,886,664 (GRCm39) probably null Het
Akna G T 4: 63,304,495 (GRCm39) T553N probably benign Het
Boc A G 16: 44,312,235 (GRCm39) I609T possibly damaging Het
Btbd9 C T 17: 30,746,383 (GRCm39) V148I possibly damaging Het
Cacna1d A T 14: 29,764,823 (GRCm39) I2049N possibly damaging Het
Cdhr1 A T 14: 36,807,536 (GRCm39) M368K probably benign Het
Cftr A G 6: 18,226,138 (GRCm39) Y362C probably damaging Het
Cnppd1 G T 1: 75,116,236 (GRCm39) probably null Het
Col3a1 T C 1: 45,360,768 (GRCm39) I66T unknown Het
Col5a2 C A 1: 45,481,985 (GRCm39) M46I unknown Het
Csmd3 G T 15: 47,470,538 (GRCm39) C3379* probably null Het
Ctla2b T A 13: 61,044,503 (GRCm39) *28C probably null Het
Ddhd2 C T 8: 26,239,781 (GRCm39) E33K possibly damaging Het
Dock3 T C 9: 106,773,092 (GRCm39) H387R probably damaging Het
Dyrk1b T A 7: 27,881,025 (GRCm39) probably benign Het
Fam131c T C 4: 141,107,648 (GRCm39) C53R probably damaging Het
Fat1 T A 8: 45,463,539 (GRCm39) F1360L probably damaging Het
Gm10320 G T 13: 98,626,045 (GRCm39) S113* probably null Het
Ifih1 T C 2: 62,447,657 (GRCm39) D349G probably damaging Het
Il12a T C 3: 68,599,495 (GRCm39) probably benign Het
Ivl A T 3: 92,478,940 (GRCm39) M375K possibly damaging Het
Krt82 C A 15: 101,451,887 (GRCm39) probably benign Het
Mc4r C T 18: 66,992,226 (GRCm39) V296I probably benign Het
Met T A 6: 17,534,230 (GRCm39) I691N possibly damaging Het
Mycbp2 A T 14: 103,425,937 (GRCm39) I2396K probably damaging Het
Nf2 A T 11: 4,739,655 (GRCm39) probably null Het
Nrxn1 G T 17: 90,950,531 (GRCm39) H549Q probably damaging Het
P4ha1 T A 10: 59,197,736 (GRCm39) I321K probably damaging Het
Prl5a1 T C 13: 28,332,683 (GRCm39) S94P probably benign Het
Prnp T C 2: 131,778,990 (GRCm39) V214A probably benign Het
Ptprc A T 1: 137,993,936 (GRCm39) F1165I probably damaging Het
Rdh10 T C 1: 16,198,483 (GRCm39) V207A possibly damaging Het
Rel A T 11: 23,703,218 (GRCm39) N131K probably benign Het
Rgs14 A T 13: 55,531,338 (GRCm39) D448V probably benign Het
Spag5 T G 11: 78,195,085 (GRCm39) S131A probably benign Het
Styxl1 C T 5: 135,794,604 (GRCm39) D88N probably damaging Het
Tlr3 C T 8: 45,851,376 (GRCm39) R507H probably benign Het
Ttn C T 2: 76,616,670 (GRCm39) E16528K possibly damaging Het
Txlnb T C 10: 17,682,606 (GRCm39) probably null Het
Unc13a A G 8: 72,107,591 (GRCm39) V567A probably damaging Het
Vmn1r8 T C 6: 57,013,653 (GRCm39) S235P possibly damaging Het
Vmn2r51 T A 7: 9,839,409 (GRCm39) N60Y probably damaging Het
Wbp1l T A 19: 46,640,922 (GRCm39) L68Q probably damaging Het
Wdfy3 A T 5: 102,071,947 (GRCm39) V981E probably benign Het
Zdhhc13 T C 7: 48,458,613 (GRCm39) S316P probably damaging Het
Zfp516 C T 18: 83,005,486 (GRCm39) R797C probably benign Het
Zp3r A G 1: 130,526,657 (GRCm39) V182A probably benign Het
Other mutations in Napg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02728:Napg APN 18 63,127,375 (GRCm39) splice site probably benign
IGL02742:Napg APN 18 63,119,319 (GRCm39) missense probably damaging 0.99
R0276:Napg UTSW 18 63,120,034 (GRCm39) missense probably damaging 1.00
R0277:Napg UTSW 18 63,120,034 (GRCm39) missense probably damaging 1.00
R0323:Napg UTSW 18 63,120,034 (GRCm39) missense probably damaging 1.00
R0325:Napg UTSW 18 63,120,034 (GRCm39) missense probably damaging 1.00
R0751:Napg UTSW 18 63,127,409 (GRCm39) missense probably benign 0.04
R0988:Napg UTSW 18 63,116,431 (GRCm39) splice site probably benign
R1184:Napg UTSW 18 63,127,409 (GRCm39) missense probably benign 0.04
R1387:Napg UTSW 18 63,119,283 (GRCm39) missense possibly damaging 0.50
R1678:Napg UTSW 18 63,117,143 (GRCm39) critical splice donor site probably null
R1779:Napg UTSW 18 63,115,762 (GRCm39) missense probably benign 0.33
R4723:Napg UTSW 18 63,125,563 (GRCm39) critical splice donor site probably null
R5848:Napg UTSW 18 63,127,440 (GRCm39) missense possibly damaging 0.49
R5874:Napg UTSW 18 63,111,091 (GRCm39) nonsense probably null
R5973:Napg UTSW 18 63,128,054 (GRCm39) missense possibly damaging 0.93
Posted On 2014-02-04