Incidental Mutation 'IGL01736:Snph'
ID105684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snph
Ensembl Gene ENSMUSG00000027457
Gene Namesyntaphilin
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01736
Quality Score
Status
Chromosome2
Chromosomal Location151590549-151632593 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 151594173 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 209 (Y209*)
Ref Sequence ENSEMBL: ENSMUSP00000105503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028950] [ENSMUST00000028951] [ENSMUST00000094456] [ENSMUST00000109875] [ENSMUST00000109877] [ENSMUST00000137936]
Predicted Effect probably benign
Transcript: ENSMUST00000028950
SMART Domains Protein: ENSMUSP00000028950
Gene: ENSMUSG00000027456

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
PDZ 117 188 2.13e-9 SMART
PDZ 201 267 1.99e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000028951
AA Change: Y278*
SMART Domains Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: Y278*

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
Pfam:Syntaphilin 50 367 9.3e-141 PFAM
low complexity region 436 449 N/A INTRINSIC
low complexity region 466 476 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000094456
AA Change: Y245*
SMART Domains Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: Y245*

DomainStartEndE-ValueType
Pfam:Syntaphilin 17 334 7.7e-141 PFAM
low complexity region 403 416 N/A INTRINSIC
low complexity region 433 443 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109875
AA Change: Y278*
SMART Domains Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: Y278*

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
Pfam:Syntaphilin 51 366 1.7e-145 PFAM
low complexity region 436 449 N/A INTRINSIC
low complexity region 466 476 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109877
AA Change: Y209*
SMART Domains Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: Y209*

DomainStartEndE-ValueType
Pfam:Syntaphilin 2 298 3.2e-125 PFAM
low complexity region 367 380 N/A INTRINSIC
low complexity region 397 407 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137936
SMART Domains Protein: ENSMUSP00000123255
Gene: ENSMUSG00000027457

DomainStartEndE-ValueType
Pfam:Syntaphilin 17 87 4.6e-39 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice with disruptions in this gene are viable, fertile, and morphologically normal. However, they do display subtile deficiencies in coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,188,442 T290A possibly damaging Het
Apip G A 2: 103,087,141 V62M probably damaging Het
Appbp2 T C 11: 85,214,317 K141R possibly damaging Het
Arhgef18 T A 8: 3,451,624 probably benign Het
B3galt2 A G 1: 143,646,845 T240A probably benign Het
Bivm A T 1: 44,141,813 N385I probably damaging Het
Brd4 A T 17: 32,198,675 probably benign Het
Cage1 T C 13: 38,022,813 D352G possibly damaging Het
Ceacam10 A G 7: 24,781,110 Y102C probably damaging Het
Diaph3 T C 14: 86,918,846 D677G probably benign Het
Dis3l T C 9: 64,319,254 probably null Het
Dnah6 C T 6: 73,188,377 V582M probably benign Het
Fndc3b A G 3: 27,467,403 L541P probably damaging Het
Folh1 T C 7: 86,742,236 T384A possibly damaging Het
Gdpd3 T C 7: 126,766,523 L18P probably damaging Het
Grxcr2 T A 18: 41,998,982 K7N probably damaging Het
Gulo A G 14: 65,996,876 F246L probably benign Het
Inpp4b A T 8: 81,997,339 D500V probably benign Het
Ints4 C T 7: 97,526,642 L647F probably benign Het
Kif17 T A 4: 138,286,565 L264Q possibly damaging Het
Kif21a T C 15: 90,959,745 N1104S possibly damaging Het
Ly6e T G 15: 74,958,697 L132R probably benign Het
Mis18bp1 T A 12: 65,138,678 H905L probably damaging Het
Nr2f2 A G 7: 70,354,698 S269P probably damaging Het
Olfr1176 T A 2: 88,340,427 N287K probably damaging Het
Olfr1360 C A 13: 21,674,617 C109F probably benign Het
Olfr1394 G A 11: 49,160,527 C171Y probably damaging Het
Pde8b T C 13: 95,030,402 I757V probably damaging Het
Psg23 A T 7: 18,612,197 I191N possibly damaging Het
Slc12a4 A T 8: 105,945,843 probably null Het
Tnfaip3 T C 10: 19,006,901 H256R probably damaging Het
Tnip3 T A 6: 65,596,123 probably benign Het
Ttc3 T A 16: 94,442,527 F1130Y probably damaging Het
Twnk T G 19: 45,010,188 V515G probably damaging Het
Usp24 T A 4: 106,423,461 I2324K probably benign Het
Vwa7 T C 17: 35,019,851 F305S probably damaging Het
Ythdc2 A T 18: 44,850,668 Q567L probably damaging Het
Zbtb11 T A 16: 55,998,160 I649K probably damaging Het
Zbtb49 T C 5: 38,200,860 Y683C probably damaging Het
Zfhx4 A T 3: 5,244,092 M793L possibly damaging Het
Zmym6 T G 4: 127,108,644 I556R probably damaging Het
Zswim8 C T 14: 20,714,712 P717S probably benign Het
Other mutations in Snph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02017:Snph APN 2 151600982 missense probably damaging 1.00
IGL02029:Snph APN 2 151593607 missense probably damaging 1.00
IGL02186:Snph APN 2 151594343 missense possibly damaging 0.67
R0621:Snph UTSW 2 151593722 missense probably damaging 1.00
R1311:Snph UTSW 2 151597202 missense probably damaging 1.00
R1660:Snph UTSW 2 151594478 nonsense probably null
R3753:Snph UTSW 2 151593454 missense probably benign 0.00
R3923:Snph UTSW 2 151593511 missense probably damaging 1.00
R4081:Snph UTSW 2 151593802 missense probably damaging 1.00
R4082:Snph UTSW 2 151593802 missense probably damaging 1.00
R4461:Snph UTSW 2 151593847 missense probably benign 0.00
R4462:Snph UTSW 2 151594115 missense probably damaging 1.00
R4463:Snph UTSW 2 151594115 missense probably damaging 1.00
R4619:Snph UTSW 2 151594514 nonsense probably null
R5042:Snph UTSW 2 151601057 missense possibly damaging 0.66
R5180:Snph UTSW 2 151600387 missense probably benign 0.05
R5184:Snph UTSW 2 151594544 missense probably damaging 1.00
R5925:Snph UTSW 2 151594231 missense probably damaging 1.00
R7169:Snph UTSW 2 151594387 missense probably damaging 1.00
R7243:Snph UTSW 2 151594253 missense probably damaging 0.99
X0024:Snph UTSW 2 151594204 missense probably benign 0.37
Posted On2014-01-21