Incidental Mutation 'R5042:Snph'
ID 393236
Institutional Source Beutler Lab
Gene Symbol Snph
Ensembl Gene ENSMUSG00000027457
Gene Name syntaphilin
Synonyms
MMRRC Submission 042632-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5042 (G1)
Quality Score 132
Status Validated
Chromosome 2
Chromosomal Location 151432469-151474513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 151442977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 35 (I35F)
Ref Sequence ENSEMBL: ENSMUSP00000138114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028951] [ENSMUST00000094456] [ENSMUST00000109875] [ENSMUST00000109877] [ENSMUST00000137936] [ENSMUST00000146172] [ENSMUST00000148755]
AlphaFold Q80U23
Predicted Effect probably benign
Transcript: ENSMUST00000028951
SMART Domains Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457

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
SMART Domains Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457

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
SMART Domains Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457

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
SMART Domains Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141692
Predicted Effect possibly damaging
Transcript: ENSMUST00000146172
AA Change: I35F

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138114
Gene: ENSMUSG00000027457
AA Change: I35F

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145434
Predicted Effect probably benign
Transcript: ENSMUST00000148755
Meta Mutation Damage Score 0.0619 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.8%
Validation Efficiency 100% (57/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,273,927 (GRCm39) noncoding transcript Het
4933413J09Rik C A 14: 26,097,436 (GRCm39) noncoding transcript Het
Aldh1a2 A G 9: 71,192,286 (GRCm39) I413V possibly damaging Het
Alpk2 C T 18: 65,483,579 (GRCm39) W143* probably null Het
Anpep G T 7: 79,489,217 (GRCm39) N318K probably benign Het
Art5 A T 7: 101,748,672 (GRCm39) L10H probably damaging Het
Atg2b T G 12: 105,587,521 (GRCm39) H1981P probably benign Het
B3gnt3 T C 8: 72,145,532 (GRCm39) T279A probably damaging Het
Bmp10 G T 6: 87,411,039 (GRCm39) E277D probably damaging Het
Ccdc180 A G 4: 45,916,255 (GRCm39) T191A probably damaging Het
Dars2 T A 1: 160,872,664 (GRCm39) probably benign Het
F5 T A 1: 164,047,020 (GRCm39) I2160N probably damaging Het
Fndc7 A T 3: 108,770,102 (GRCm39) V608D probably damaging Het
Gad1-ps A T 10: 99,281,516 (GRCm39) noncoding transcript Het
Gbp2b A G 3: 142,317,224 (GRCm39) K527E probably benign Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Hes3 T A 4: 152,371,500 (GRCm39) S150C possibly damaging Het
Hp1bp3 T A 4: 137,949,419 (GRCm39) M1K probably null Het
Il17rd T A 14: 26,817,998 (GRCm39) V229E probably damaging Het
Iqch A G 9: 63,403,516 (GRCm39) M634T possibly damaging Het
Magel2 C T 7: 62,029,354 (GRCm39) R753W unknown Het
Med26 A G 8: 73,250,919 (GRCm39) V60A probably damaging Het
Myo1d T A 11: 80,448,347 (GRCm39) D926V probably damaging Het
Nat1 T G 8: 67,944,228 (GRCm39) D201E probably benign Het
Nav3 G T 10: 109,605,129 (GRCm39) S981R probably benign Het
Nbn C A 4: 15,981,446 (GRCm39) L513M probably benign Het
Nfatc3 T C 8: 106,834,757 (GRCm39) V701A probably benign Het
Nlrp9a A G 7: 26,270,703 (GRCm39) D911G probably damaging Het
Npr2 A T 4: 43,647,002 (GRCm39) I712F probably damaging Het
Oplah G A 15: 76,189,909 (GRCm39) R235* probably null Het
Or10a48 A G 7: 108,424,678 (GRCm39) I176T possibly damaging Het
Pcdha11 T A 18: 37,144,649 (GRCm39) Y247N probably damaging Het
Pcdhga9 A G 18: 37,870,630 (GRCm39) Y153C probably damaging Het
Pkd1 A T 17: 24,788,861 (GRCm39) D873V probably benign Het
Pnpla1 A G 17: 29,100,021 (GRCm39) N296S probably benign Het
Ppfia3 A G 7: 44,991,765 (GRCm39) V839A probably damaging Het
Ppm1j A T 3: 104,690,036 (GRCm39) Q148L probably null Het
Prune2 T A 19: 17,097,161 (GRCm39) N888K possibly damaging Het
Sh3bgr A G 16: 96,007,066 (GRCm39) D12G probably benign Het
Spag17 A T 3: 99,979,465 (GRCm39) D1442V probably damaging Het
Spidr T C 16: 15,936,767 (GRCm39) T113A probably benign Het
St13 A T 15: 81,249,693 (GRCm39) N349K probably damaging Het
Ttll6 C T 11: 96,045,430 (GRCm39) S549F possibly damaging Het
Uap1l1 A T 2: 25,252,097 (GRCm39) S473T possibly damaging Het
Vmn1r54 T C 6: 90,246,422 (GRCm39) V112A possibly damaging Het
Vmn2r57 G A 7: 41,078,086 (GRCm39) S124L probably benign Het
Wasf2 A T 4: 132,903,875 (GRCm39) R28W probably benign Het
Wwp2 T A 8: 108,275,117 (GRCm39) N417K possibly damaging Het
Zc3h13 A T 14: 75,576,836 (GRCm39) D1648V 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
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
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'- AAGGCACGCTACAAGTCTGC -3'
(R):5'- AAACTGGGGTTAGCAGCCTG -3'

Sequencing Primer
(F):5'- AGTCTGCTGCACACACTG -3'
(R):5'- CCACTGAATTCACTGGTGGAG -3'
Posted On 2016-06-15