Incidental Mutation 'IGL01736:Snph'
ID 105684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snph
Ensembl Gene ENSMUSG00000027457
Gene Name syntaphilin
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01736
Quality Score
Status
Chromosome 2
Chromosomal Location 151432469-151474513 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 151436093 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q80U23
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: 114,326,503 (GRCm39) T290A possibly damaging Het
Apip G A 2: 102,917,486 (GRCm39) V62M probably damaging Het
Appbp2 T C 11: 85,105,143 (GRCm39) K141R possibly damaging Het
Arhgef18 T A 8: 3,501,624 (GRCm39) probably benign Het
B3galt2 A G 1: 143,522,583 (GRCm39) T240A probably benign Het
Bivm A T 1: 44,180,973 (GRCm39) N385I probably damaging Het
Brd4 A T 17: 32,417,649 (GRCm39) probably benign Het
Cage1 T C 13: 38,206,789 (GRCm39) D352G possibly damaging Het
Ceacam10 A G 7: 24,480,535 (GRCm39) Y102C probably damaging Het
Diaph3 T C 14: 87,156,282 (GRCm39) D677G probably benign Het
Dis3l T C 9: 64,226,536 (GRCm39) probably null Het
Dnah6 C T 6: 73,165,360 (GRCm39) V582M probably benign Het
Fndc3b A G 3: 27,521,552 (GRCm39) L541P probably damaging Het
Folh1 T C 7: 86,391,444 (GRCm39) T384A possibly damaging Het
Gdpd3 T C 7: 126,365,695 (GRCm39) L18P probably damaging Het
Grxcr2 T A 18: 42,132,047 (GRCm39) K7N probably damaging Het
Gulo A G 14: 66,234,325 (GRCm39) F246L probably benign Het
Inpp4b A T 8: 82,723,968 (GRCm39) D500V probably benign Het
Ints4 C T 7: 97,175,849 (GRCm39) L647F probably benign Het
Kif17 T A 4: 138,013,876 (GRCm39) L264Q possibly damaging Het
Kif21a T C 15: 90,843,948 (GRCm39) N1104S possibly damaging Het
Ly6e T G 15: 74,830,546 (GRCm39) L132R probably benign Het
Mis18bp1 T A 12: 65,185,452 (GRCm39) H905L probably damaging Het
Nr2f2 A G 7: 70,004,446 (GRCm39) S269P probably damaging Het
Or2b2b C A 13: 21,858,787 (GRCm39) C109F probably benign Het
Or2o1 G A 11: 49,051,354 (GRCm39) C171Y probably damaging Het
Or5d46 T A 2: 88,170,771 (GRCm39) N287K probably damaging Het
Pde8b T C 13: 95,166,910 (GRCm39) I757V probably damaging Het
Psg23 A T 7: 18,346,122 (GRCm39) I191N possibly damaging Het
Slc12a4 A T 8: 106,672,475 (GRCm39) probably null Het
Tnfaip3 T C 10: 18,882,649 (GRCm39) H256R probably damaging Het
Tnip3 T A 6: 65,573,107 (GRCm39) probably benign Het
Ttc3 T A 16: 94,243,386 (GRCm39) F1130Y probably damaging Het
Twnk T G 19: 44,998,627 (GRCm39) V515G probably damaging Het
Usp24 T A 4: 106,280,658 (GRCm39) I2324K probably benign Het
Vwa7 T C 17: 35,238,827 (GRCm39) F305S probably damaging Het
Ythdc2 A T 18: 44,983,735 (GRCm39) Q567L probably damaging Het
Zbtb11 T A 16: 55,818,523 (GRCm39) I649K probably damaging Het
Zbtb49 T C 5: 38,358,204 (GRCm39) Y683C probably damaging Het
Zfhx4 A T 3: 5,309,152 (GRCm39) M793L possibly damaging Het
Zmym6 T G 4: 127,002,437 (GRCm39) I556R probably damaging Het
Zswim8 C T 14: 20,764,780 (GRCm39) P717S probably benign Het
Other mutations in Snph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02017:Snph APN 2 151,442,902 (GRCm39) missense probably damaging 1.00
IGL02029:Snph APN 2 151,435,527 (GRCm39) missense probably damaging 1.00
IGL02186:Snph APN 2 151,436,263 (GRCm39) missense possibly damaging 0.67
R0621:Snph UTSW 2 151,435,642 (GRCm39) missense probably damaging 1.00
R1311:Snph UTSW 2 151,439,122 (GRCm39) missense probably damaging 1.00
R1660:Snph UTSW 2 151,436,398 (GRCm39) nonsense probably null
R3753:Snph UTSW 2 151,435,374 (GRCm39) missense probably benign 0.00
R3923:Snph UTSW 2 151,435,431 (GRCm39) missense probably damaging 1.00
R4081:Snph UTSW 2 151,435,722 (GRCm39) missense probably damaging 1.00
R4082:Snph UTSW 2 151,435,722 (GRCm39) missense probably damaging 1.00
R4461:Snph UTSW 2 151,435,767 (GRCm39) missense probably benign 0.00
R4462:Snph UTSW 2 151,436,035 (GRCm39) missense probably damaging 1.00
R4463:Snph UTSW 2 151,436,035 (GRCm39) missense probably damaging 1.00
R4619:Snph UTSW 2 151,436,434 (GRCm39) nonsense probably null
R5042:Snph UTSW 2 151,442,977 (GRCm39) missense possibly damaging 0.66
R5180:Snph UTSW 2 151,442,307 (GRCm39) missense probably benign 0.05
R5184:Snph UTSW 2 151,436,464 (GRCm39) missense probably damaging 1.00
R5925:Snph UTSW 2 151,436,151 (GRCm39) missense probably damaging 1.00
R7169:Snph UTSW 2 151,436,307 (GRCm39) missense probably damaging 1.00
R7243:Snph UTSW 2 151,436,173 (GRCm39) missense probably damaging 0.99
R7417:Snph UTSW 2 151,442,263 (GRCm39) missense probably damaging 1.00
R7607:Snph UTSW 2 151,436,506 (GRCm39) missense probably damaging 1.00
R8517:Snph UTSW 2 151,435,641 (GRCm39) missense probably damaging 0.99
R9325:Snph UTSW 2 151,436,208 (GRCm39) missense probably damaging 0.99
R9617:Snph UTSW 2 151,435,422 (GRCm39) missense probably damaging 1.00
R9671:Snph UTSW 2 151,436,331 (GRCm39) missense probably damaging 1.00
X0024:Snph UTSW 2 151,436,124 (GRCm39) missense probably benign 0.37
Z1177:Snph UTSW 2 151,435,554 (GRCm39) missense possibly damaging 0.47
Posted On 2014-01-21