Incidental Mutation 'R4461:Snph'
ID 330132
Institutional Source Beutler Lab
Gene Symbol Snph
Ensembl Gene ENSMUSG00000027457
Gene Name syntaphilin
Synonyms
MMRRC Submission 041720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4461 (G1)
Quality Score 196
Status Validated
Chromosome 2
Chromosomal Location 151432469-151474513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 151435767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 318 (S318L)
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 benign
Transcript: ENSMUST00000028951
AA Change: S387L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: S387L

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 benign
Transcript: ENSMUST00000094456
AA Change: S354L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: S354L

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 benign
Transcript: ENSMUST00000109875
AA Change: S387L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: S387L

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 benign
Transcript: ENSMUST00000109877
AA Change: S318L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: S318L

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
Meta Mutation Damage Score 0.0782 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (50/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 T C 17: 66,292,932 (GRCm39) probably null Het
Apex1 T C 14: 51,163,970 (GRCm39) V165A probably damaging Het
Btbd17 C T 11: 114,684,815 (GRCm39) D75N possibly damaging Het
Chd2 T C 7: 73,190,622 (GRCm39) probably benign Het
Coq10a T C 10: 128,200,347 (GRCm39) N138S possibly damaging Het
Ctbp1 A T 5: 33,408,357 (GRCm39) Y192N probably damaging Het
Cx3cl1 A G 8: 95,507,184 (GRCm39) *396W probably null Het
D6Ertd527e T C 6: 87,088,299 (GRCm39) I154T unknown Het
Dao T A 5: 114,157,987 (GRCm39) V203E probably damaging Het
Egr4 G A 6: 85,489,322 (GRCm39) A246V probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
H2-Eb2 T A 17: 34,552,497 (GRCm39) V114E possibly damaging Het
Hpgds A G 6: 65,100,618 (GRCm39) L120P probably damaging Het
Ikbke C T 1: 131,193,659 (GRCm39) V464I probably benign Het
Kank2 G A 9: 21,706,041 (GRCm39) Q326* probably null Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Klkb1 A G 8: 45,726,612 (GRCm39) S464P probably damaging Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Kmt2c A G 5: 25,504,874 (GRCm39) V3478A probably benign Het
Knl1 A C 2: 118,890,080 (GRCm39) N44T probably benign Het
Letm2 A G 8: 26,076,715 (GRCm39) C296R probably damaging Het
Lrrc37a A G 11: 103,355,180 (GRCm39) probably null Het
Med20 T C 17: 47,929,842 (GRCm39) V93A probably benign Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Muc1 A T 3: 89,138,870 (GRCm39) D493V probably damaging Het
Nek2 C T 1: 191,554,827 (GRCm39) P180S probably damaging Het
Nin A T 12: 70,089,359 (GRCm39) M1352K probably benign Het
Or5aq1 T C 2: 86,966,005 (GRCm39) H220R probably benign Het
P3h3 A T 6: 124,822,531 (GRCm39) S547T probably benign Het
Pik3c2g C T 6: 139,787,407 (GRCm39) probably benign Het
Pkd1l3 A G 8: 110,359,345 (GRCm39) probably null Het
Pzp T C 6: 128,501,003 (GRCm39) I118M probably benign Het
Rps6ka5 C A 12: 100,537,123 (GRCm39) D536Y probably damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Siglece T C 7: 43,300,929 (GRCm39) Q462R probably benign Het
Sirt3 T C 7: 140,444,913 (GRCm39) D295G possibly damaging Het
Snx18 T C 13: 113,753,731 (GRCm39) T401A probably damaging Het
Tefm A G 11: 80,028,875 (GRCm39) probably null Het
Thada T C 17: 84,733,665 (GRCm39) Y994C probably damaging Het
Trmt1 A G 8: 85,425,778 (GRCm39) N531D probably benign Het
Ttc17 A G 2: 94,196,916 (GRCm39) V477A probably benign Het
Ubxn10 T A 4: 138,448,187 (GRCm39) Q163L probably benign Het
Ulk4 A T 9: 120,985,950 (GRCm39) I908N possibly damaging Het
Zfp747l1 A G 7: 126,983,917 (GRCm39) L395P probably damaging Het
Zscan12 C T 13: 21,550,789 (GRCm39) S136L possibly damaging Het
Other mutations in Snph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Snph APN 2 151,436,093 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- CAGTAACTCTTGGGTTCCTTTTCGG -3'
(R):5'- GCAACACCTACGAGAAGCTG -3'

Sequencing Primer
(F):5'- TCGGTGGTGGTGGCAGC -3'
(R):5'- ACACCTACGAGAAGCTGCTGTG -3'
Posted On 2015-07-21