Incidental Mutation 'R4081:Snph'
ID 316865
Institutional Source Beutler Lab
Gene Symbol Snph
Ensembl Gene ENSMUSG00000027457
Gene Name syntaphilin
Synonyms
MMRRC Submission 040977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4081 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 151432469-151474513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151435722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 402 (D402G)
Ref Sequence ENSEMBL: ENSMUSP00000105501 (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 damaging
Transcript: ENSMUST00000028951
AA Change: D402G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: D402G

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: D369G

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: D369G

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: D402G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: D402G

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: D333G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: D333G

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 0.0685 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 98% (58/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,109,497 (GRCm39) D324E possibly damaging Het
Adad1 A G 3: 37,118,512 (GRCm39) probably null Het
Aim2 T C 1: 173,287,417 (GRCm39) probably null Het
Arhgef1 G T 7: 24,625,271 (GRCm39) D850Y probably damaging Het
Ccnf T C 17: 24,442,872 (GRCm39) *778W probably null Het
Cd53 T C 3: 106,669,461 (GRCm39) H179R probably benign Het
Cit G T 5: 116,086,109 (GRCm39) R891L probably damaging Het
Clec4b1 T C 6: 123,046,733 (GRCm39) probably null Het
Cntrl C A 2: 35,051,938 (GRCm39) probably benign Het
Cntrl A G 2: 35,065,137 (GRCm39) D2148G probably damaging Het
Cpa5 T C 6: 30,631,228 (GRCm39) S381P probably benign Het
Crybg1 A T 10: 43,851,035 (GRCm39) V1612D probably damaging Het
Cwc25 G T 11: 97,644,744 (GRCm39) Q205K probably benign Het
Cyp2d11 A T 15: 82,276,002 (GRCm39) I193N possibly damaging Het
Gdi2 T A 13: 3,598,866 (GRCm39) C17S probably benign Het
Gm5436 T A 12: 84,305,489 (GRCm39) noncoding transcript Het
Ifit1bl1 T C 19: 34,572,040 (GRCm39) Y139C possibly damaging Het
Insr A T 8: 3,261,391 (GRCm39) M321K probably benign Het
Ippk T A 13: 49,599,852 (GRCm39) L237Q probably damaging Het
Itpr1 T A 6: 108,368,796 (GRCm39) I149N probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrp2 T A 2: 69,343,617 (GRCm39) H914L probably damaging Het
Myd88 G T 9: 119,169,053 (GRCm39) probably benign Het
Myh2 T C 11: 67,081,256 (GRCm39) S1291P probably benign Het
Mylk3 G A 8: 86,055,311 (GRCm39) L549F probably damaging Het
Otog T C 7: 45,937,723 (GRCm39) S1811P possibly damaging Het
Phrf1 T C 7: 140,838,970 (GRCm39) probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prorp G T 12: 55,351,398 (GRCm39) V236F possibly damaging Het
Ptprh T A 7: 4,583,987 (GRCm39) T202S probably damaging Het
Ptprr A T 10: 116,072,615 (GRCm39) K329N probably benign Het
Rgl3 T A 9: 21,898,971 (GRCm39) H156L possibly damaging Het
Sema6b A G 17: 56,435,307 (GRCm39) V312A probably damaging Het
Sez6l T C 5: 112,609,032 (GRCm39) I606V probably benign Het
Slco1a1 T C 6: 141,881,688 (GRCm39) E148G probably damaging Het
Sohlh1 A G 2: 25,735,734 (GRCm39) V135A probably benign Het
Sox14 T C 9: 99,757,277 (GRCm39) E154G possibly damaging Het
Spta1 A G 1: 174,041,632 (GRCm39) D1334G probably benign Het
Stard13 C A 5: 151,016,294 (GRCm39) probably null Het
Szt2 A G 4: 118,230,764 (GRCm39) probably benign Het
Tab2 G A 10: 7,795,595 (GRCm39) P296S probably damaging Het
Tbx15 A G 3: 99,220,370 (GRCm39) D48G possibly damaging Het
Tex10 T C 4: 48,468,873 (GRCm39) S101G probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Vmn1r66 A G 7: 10,008,733 (GRCm39) I100T probably damaging Het
Vmn2r106 A T 17: 20,487,818 (GRCm39) Y860* probably null Het
Vwa3b C T 1: 37,074,905 (GRCm39) T24I probably damaging Het
Zfp541 G A 7: 15,806,060 (GRCm39) S65N probably benign Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y probably 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
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
Predicted Primers PCR Primer
(F):5'- AGCAGATCCACGATGTAGTG -3'
(R):5'- GCAACACCTACGAGAAGCTG -3'

Sequencing Primer
(F):5'- TGGCGGCTCCAGTAACTCTTG -3'
(R):5'- ACACCTACGAGAAGCTGCTGTG -3'
Posted On 2015-05-15