Incidental Mutation 'IGL02029:Snph'
ID184295
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 #IGL02029
Quality Score
Status
Chromosome2
Chromosomal Location151590549-151632593 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 151593607 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 434 (V434A)
Ref Sequence ENSEMBL: ENSMUSP00000092026 (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 damaging
Transcript: ENSMUST00000028951
AA Change: V467A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: V467A

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 damaging
Transcript: ENSMUST00000094456
AA Change: V434A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: V434A

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 damaging
Transcript: ENSMUST00000109875
AA Change: V467A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: V467A

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 possibly damaging
Transcript: ENSMUST00000109877
AA Change: V398A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: V398A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 T C 10: 127,080,283 V221A unknown Het
Akr1c13 T A 13: 4,205,362 Y317* probably null Het
Bicd2 T A 13: 49,369,499 I30N probably damaging Het
Cadm2 G T 16: 66,747,296 N291K probably damaging Het
Ccdc61 C T 7: 18,903,498 C68Y probably damaging Het
Ccnl2 A G 4: 155,821,862 S351G probably benign Het
Cdcp1 A G 9: 123,183,834 probably benign Het
Clhc1 T C 11: 29,560,798 S256P probably benign Het
Fam83h T C 15: 76,006,438 E37G probably damaging Het
Fancd2 C T 6: 113,570,975 L938F probably benign Het
Fbn2 G T 18: 58,209,603 A68E probably benign Het
Fcrl1 T A 3: 87,376,487 probably benign Het
Ganc A G 2: 120,459,857 T892A probably benign Het
Gramd1a C T 7: 31,132,824 R596H possibly damaging Het
Limk1 A T 5: 134,657,954 Y518* probably null Het
Map1a A G 2: 121,303,298 T1294A possibly damaging Het
March3 G A 18: 56,807,681 P126S probably benign Het
Ntn5 A G 7: 45,686,591 I149V probably benign Het
Nup43 T C 10: 7,667,583 F8L possibly damaging Het
Olfr1105 A G 2: 87,033,901 F107L probably benign Het
Olfr1484 A T 19: 13,586,104 M267L probably benign Het
P2rx6 C T 16: 17,568,095 S236F probably benign Het
Peg10 G T 6: 4,754,473 probably benign Het
Runx2 T A 17: 44,658,687 R238* probably null Het
Serpinb9d A T 13: 33,196,529 I133L possibly damaging Het
Trp53rkb C A 2: 166,795,394 P90Q probably damaging Het
Ttn C A 2: 76,749,804 E21836* probably null Het
Ube3c T A 5: 29,619,328 F507I probably damaging Het
Ugt1a6a T C 1: 88,138,681 S70P probably benign Het
Zcchc6 A G 13: 59,784,888 probably benign Het
Zfp354b C T 11: 50,923,837 C87Y probably benign Het
Zfp462 G T 4: 55,079,395 probably benign Het
Other mutations in Snph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Snph APN 2 151594173 nonsense probably null
IGL02017:Snph APN 2 151600982 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
X0024:Snph UTSW 2 151594204 missense probably benign 0.37
Posted On2014-05-07