Incidental Mutation 'R7607:Snph'
ID 588347
Institutional Source Beutler Lab
Gene Symbol Snph
Ensembl Gene ENSMUSG00000027457
Gene Name syntaphilin
Synonyms
MMRRC Submission 045677-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7607 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 151432469-151474513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 151436506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 141 (D141N)
Ref Sequence ENSEMBL: ENSMUSP00000028951 (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: D141N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: D141N

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: D108N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: D108N

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: D141N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: D141N

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 damaging
Transcript: ENSMUST00000109877
AA Change: D72N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: D72N

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 0.0775 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik A T 11: 70,128,383 (GRCm39) H30Q probably damaging Het
A930009A15Rik G A 10: 115,417,894 (GRCm39) probably null Het
Abca7 T C 10: 79,847,667 (GRCm39) L1779P probably damaging Het
Aff1 G A 5: 103,997,325 (GRCm39) V1140I possibly damaging Het
Ano2 C T 6: 125,689,382 (GRCm39) A169V probably damaging Het
Atat1 T C 17: 36,219,999 (GRCm39) Y101C possibly damaging Het
Atp6v1c1 T C 15: 38,683,255 (GRCm39) probably null Het
Atp7b T G 8: 22,501,522 (GRCm39) K912T probably damaging Het
Ceacam14 T C 7: 17,548,246 (GRCm39) V112A possibly damaging Het
Cfap107 T A 4: 144,146,332 (GRCm39) H107L probably damaging Het
Cobll1 T C 2: 64,926,201 (GRCm39) N1119S probably benign Het
Csmd1 G T 8: 15,968,331 (GRCm39) Q3099K possibly damaging Het
Cyp3a25 A G 5: 145,921,791 (GRCm39) V381A possibly damaging Het
Dctn1 C T 6: 83,172,051 (GRCm39) R948* probably null Het
Dhrs3 A G 4: 144,650,510 (GRCm39) T219A probably benign Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Esrp1 A G 4: 11,384,449 (GRCm39) V78A probably damaging Het
Evc2 A G 5: 37,544,200 (GRCm39) T650A possibly damaging Het
Exoc6b T A 6: 84,966,391 (GRCm39) K194N possibly damaging Het
Fer1l6 G A 15: 58,534,581 (GRCm39) W1809* probably null Het
Frmd4a T A 2: 4,596,747 (GRCm39) L156* probably null Het
Gk5 A T 9: 96,035,263 (GRCm39) probably null Het
Gm3573 A G 14: 42,011,707 (GRCm39) F8L probably benign Het
Gm9767 G A 10: 25,954,838 (GRCm39) C130Y unknown Het
Grip2 T C 6: 91,765,393 (GRCm39) T30A probably benign Het
Gskip C A 12: 105,665,156 (GRCm39) A65E possibly damaging Het
Gtf2e2 A G 8: 34,266,493 (GRCm39) R259G probably benign Het
Gucy1b2 T A 14: 62,656,626 (GRCm39) I244F probably damaging Het
Gxylt2 G T 6: 100,775,151 (GRCm39) V357L possibly damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Igdcc4 C T 9: 65,041,040 (GRCm39) P1024S possibly damaging Het
Ino80 A T 2: 119,212,750 (GRCm39) probably null Het
Knl1 T C 2: 118,925,614 (GRCm39) F1881S possibly damaging Het
Mbd6 T C 10: 127,121,099 (GRCm39) E518G unknown Het
Mlh1 A G 9: 111,058,958 (GRCm39) S689P probably damaging Het
Mmrn2 T C 14: 34,120,897 (GRCm39) I589T possibly damaging Het
Mtmr12 C T 15: 12,257,794 (GRCm39) Q291* probably null Het
Mup8 T A 4: 60,222,035 (GRCm39) I33F probably benign Het
Mylk C T 16: 34,715,184 (GRCm39) P504L probably benign Het
Ntrk3 C T 7: 77,900,621 (GRCm39) A573T probably benign Het
Obscn G T 11: 58,889,091 (GRCm39) S7560R unknown Het
Or1m1 A G 9: 18,666,178 (GRCm39) F251S possibly damaging Het
Or52z12 A C 7: 103,234,137 (GRCm39) T303P probably damaging Het
Pde1c T C 6: 56,127,613 (GRCm39) T391A probably damaging Het
Pla2g4d T A 2: 120,119,457 (GRCm39) H19L probably benign Het
Plce1 C A 19: 38,513,196 (GRCm39) A165E probably benign Het
Polr1a T C 6: 71,890,005 (GRCm39) S75P probably benign Het
Psg21 T C 7: 18,388,708 (GRCm39) E128G probably benign Het
Radil A G 5: 142,492,368 (GRCm39) I420T probably damaging Het
Radil A T 5: 142,480,550 (GRCm39) M635K probably damaging Het
Rnase11 G A 14: 51,287,029 (GRCm39) T175I probably damaging Het
Robo1 C T 16: 72,360,626 (GRCm39) P13S Het
Slc18a2 C A 19: 59,272,790 (GRCm39) A364D probably benign Het
Snrnp70 T C 7: 45,041,688 (GRCm39) K70R possibly damaging Het
Snx33 T C 9: 56,833,997 (GRCm39) D24G probably benign Het
Spag6 T A 2: 18,736,773 (GRCm39) D165E possibly damaging Het
Spata31 T G 13: 65,069,406 (GRCm39) L518R probably damaging Het
Spata31e3 T C 13: 50,404,296 (GRCm39) E2G possibly damaging Het
Sspo G A 6: 48,466,661 (GRCm39) V4059M probably damaging Het
St6galnac2 T C 11: 116,570,805 (GRCm39) Y261C probably damaging Het
Stoml1 A G 9: 58,163,941 (GRCm39) R87G probably damaging Het
Suv39h2 T C 2: 3,475,866 (GRCm39) T40A unknown Het
Terb2 G T 2: 122,016,956 (GRCm39) G26W probably damaging Het
Tmem62 T C 2: 120,826,921 (GRCm39) I406T probably benign Het
Tnfrsf11a G A 1: 105,772,458 (GRCm39) V582I probably benign Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Unc13c T C 9: 73,576,817 (GRCm39) D1480G probably damaging Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vmn1r48 C A 6: 90,012,962 (GRCm39) V288L probably benign Het
Vmn2r13 A G 5: 109,321,506 (GRCm39) V397A probably damaging Het
Vmn2r98 A G 17: 19,287,570 (GRCm39) N468D possibly damaging Het
Zfhx2 G T 14: 55,303,688 (GRCm39) T1432K possibly damaging Het
Zswim5 T A 4: 116,843,939 (GRCm39) D992E 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
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
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'- AAAGTACTTCTGCAGCCCC -3'
(R):5'- AACGATCCTGTTTTGGCCC -3'

Sequencing Primer
(F):5'- CTTGTCCTTGTCAATCAGGTTG -3'
(R):5'- TTACTCCTCTCCCTGTGGG -3'
Posted On 2019-10-24