Incidental Mutation 'IGL02804:Snap23'
ID 360363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snap23
Ensembl Gene ENSMUSG00000027287
Gene Name synaptosomal-associated protein 23
Synonyms Syndet, SNAP-23, Sndt
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02804
Quality Score
Status
Chromosome 2
Chromosomal Location 120398152-120431736 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 120416637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028743] [ENSMUST00000110711] [ENSMUST00000116437] [ENSMUST00000142278] [ENSMUST00000153580] [ENSMUST00000150611]
AlphaFold O09044
Predicted Effect probably benign
Transcript: ENSMUST00000028743
SMART Domains Protein: ENSMUSP00000028743
Gene: ENSMUSG00000027287

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
t_SNARE 140 207 1.89e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110711
SMART Domains Protein: ENSMUSP00000106339
Gene: ENSMUSG00000027287

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
t_SNARE 140 207 1.89e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116437
SMART Domains Protein: ENSMUSP00000112138
Gene: ENSMUSG00000027287

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
t_SNARE 151 218 1.89e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137144
Predicted Effect probably benign
Transcript: ENSMUST00000142278
SMART Domains Protein: ENSMUSP00000116935
Gene: ENSMUSG00000027287

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
Pfam:SNAP-25 86 146 6.8e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147864
Predicted Effect probably benign
Transcript: ENSMUST00000153580
SMART Domains Protein: ENSMUSP00000121509
Gene: ENSMUSG00000027287

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150611
SMART Domains Protein: ENSMUSP00000119652
Gene: ENSMUSG00000027287

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to E3.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,397,009 (GRCm39) I241N possibly damaging Het
Aftph T C 11: 20,676,107 (GRCm39) T501A possibly damaging Het
Agrn A G 4: 156,258,512 (GRCm39) S985P probably benign Het
Atxn7l1 T A 12: 33,417,788 (GRCm39) S650T probably damaging Het
Camk2d G A 3: 126,591,387 (GRCm39) E286K possibly damaging Het
Card10 A G 15: 78,686,649 (GRCm39) V56A probably damaging Het
Fcgbpl1 G T 7: 27,852,795 (GRCm39) V1361L probably benign Het
H2-Q10 G A 17: 35,784,147 (GRCm39) G263R probably damaging Het
Herc4 A C 10: 63,121,454 (GRCm39) K365Q probably benign Het
Klhl33 T C 14: 51,130,411 (GRCm39) H101R probably damaging Het
Lef1 A G 3: 130,988,338 (GRCm39) N236D probably damaging Het
Lipg T A 18: 75,082,159 (GRCm39) N255Y probably damaging Het
Lrp5 T C 19: 3,650,777 (GRCm39) D1219G possibly damaging Het
Myh7b T C 2: 155,467,643 (GRCm39) L756P probably damaging Het
Nnt A G 13: 119,518,210 (GRCm39) probably null Het
Or6c88 T C 10: 129,407,306 (GRCm39) S261P possibly damaging Het
Pcsk9 A G 4: 106,314,161 (GRCm39) Y145H probably damaging Het
Prkag1 G A 15: 98,713,385 (GRCm39) S69L probably damaging Het
Prkd2 C A 7: 16,589,815 (GRCm39) R506S probably benign Het
Ralgapb T A 2: 158,268,204 (GRCm39) D102E possibly damaging Het
Rbm44 A G 1: 91,077,898 (GRCm39) probably benign Het
Sntg1 T A 1: 8,874,182 (GRCm39) probably benign Het
Speer4a2 T A 5: 26,291,429 (GRCm39) K126* probably null Het
Strbp T C 2: 37,514,498 (GRCm39) probably benign Het
Tmem217 G A 17: 29,745,455 (GRCm39) L92F probably damaging Het
Troap G A 15: 98,975,552 (GRCm39) probably null Het
Vmn1r16 T C 6: 57,300,467 (GRCm39) M52V probably benign Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zbp1 T A 2: 173,050,939 (GRCm39) K310N probably damaging Het
Zfp423 T A 8: 88,509,285 (GRCm39) H332L probably benign Het
Other mutations in Snap23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02146:Snap23 APN 2 120,429,792 (GRCm39) missense probably damaging 1.00
R1844:Snap23 UTSW 2 120,421,163 (GRCm39) missense probably benign
R2268:Snap23 UTSW 2 120,429,793 (GRCm39) missense probably benign
R3755:Snap23 UTSW 2 120,416,726 (GRCm39) missense probably damaging 1.00
R3904:Snap23 UTSW 2 120,429,815 (GRCm39) missense possibly damaging 0.50
R4089:Snap23 UTSW 2 120,414,856 (GRCm39) splice site probably benign
R4090:Snap23 UTSW 2 120,416,061 (GRCm39) missense probably benign 0.00
R4112:Snap23 UTSW 2 120,414,856 (GRCm39) splice site probably benign
R5509:Snap23 UTSW 2 120,425,346 (GRCm39) missense probably benign 0.05
R5726:Snap23 UTSW 2 120,414,752 (GRCm39) splice site probably benign
R8990:Snap23 UTSW 2 120,415,516 (GRCm39) intron probably benign
R9266:Snap23 UTSW 2 120,414,781 (GRCm39) start gained probably benign
Z1177:Snap23 UTSW 2 120,425,331 (GRCm39) missense probably benign 0.09
Posted On 2015-12-18