Incidental Mutation 'IGL02742:Napg'
ID 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
Essential gene? Probably essential (E-score: 0.946) question?
Stock # IGL02742
Quality Score
Status
Chromosome 18
Chromosomal Location 63110910-63132521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63119319 bp (GRCm39)
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]
AlphaFold Q9CWZ7
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

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 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

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 103,972,824 (GRCm39) T506A probably damaging Het
Ankib1 A C 5: 3,743,479 (GRCm39) D845E probably benign Het
Atxn2 T C 5: 121,919,399 (GRCm39) V369A possibly damaging Het
Ccdc50 T A 16: 27,225,534 (GRCm39) probably benign Het
Clec2g A G 6: 128,957,224 (GRCm39) I61V possibly damaging Het
Col16a1 G A 4: 129,955,172 (GRCm39) probably benign Het
Dapk2 A G 9: 66,139,096 (GRCm39) Y139C probably damaging Het
Ecpas A G 4: 58,840,757 (GRCm39) V667A probably damaging Het
Fnip1 T C 11: 54,384,177 (GRCm39) L334P probably damaging Het
Igf1r A G 7: 67,839,739 (GRCm39) E682G possibly damaging Het
Ints8 T C 4: 11,241,627 (GRCm39) E272G possibly damaging Het
Jph2 G A 2: 163,217,699 (GRCm39) P326S probably damaging Het
Krtap1-4 T C 11: 99,473,940 (GRCm39) probably benign Het
Lrp5 A G 19: 3,654,022 (GRCm39) I1135T probably damaging Het
Lrrk1 A G 7: 65,958,439 (GRCm39) V320A probably benign Het
Myh6 A C 14: 55,191,381 (GRCm39) I820S possibly damaging Het
Nova1 G A 12: 46,767,475 (GRCm39) Q56* probably null Het
Phyhip A G 14: 70,699,367 (GRCm39) probably null Het
Pkd2l2 C A 18: 34,549,970 (GRCm39) S205* probably null Het
Ppp2r1a G T 17: 21,179,265 (GRCm39) C101F probably benign Het
Serpinb3c G A 1: 107,200,872 (GRCm39) R182* probably null Het
St18 A C 1: 6,872,540 (GRCm39) probably benign Het
St6galnac4 C T 2: 32,487,096 (GRCm39) R264C possibly damaging Het
Tmem168 T C 6: 13,603,261 (GRCm39) Y35C probably benign Het
Tmem219 A G 7: 126,496,220 (GRCm39) L74P probably damaging Het
Trpc4 T A 3: 54,206,667 (GRCm39) N622K probably damaging Het
Trpm6 A C 19: 18,807,376 (GRCm39) probably benign Het
Ttl C A 2: 128,908,213 (GRCm39) F49L possibly damaging Het
Tut7 C T 13: 59,964,156 (GRCm39) D250N probably damaging Het
Vmn1r123 A T 7: 20,896,968 (GRCm39) I287F possibly damaging Het
Vmn2r97 T G 17: 19,149,432 (GRCm39) I273M probably damaging Het
Wdr5 C A 2: 27,410,437 (GRCm39) probably benign Het
Zfp37 C A 4: 62,110,548 (GRCm39) C172F possibly damaging Het
Other mutations in Napg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:Napg APN 18 63,119,516 (GRCm39) missense probably benign 0.21
IGL02728:Napg APN 18 63,127,375 (GRCm39) splice site probably benign
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 2015-04-16