Incidental Mutation 'R5180:Snph'
ID399688
Institutional Source Beutler Lab
Gene Symbol Snph
Ensembl Gene ENSMUSG00000027457
Gene Namesyntaphilin
Synonyms
MMRRC Submission 042760-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5180 (G1)
Quality Score151
Status Validated
Chromosome2
Chromosomal Location151590549-151632593 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 151600387 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 43 (R43W)
Ref Sequence ENSEMBL: ENSMUSP00000105501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028951] [ENSMUST00000094456] [ENSMUST00000109875] [ENSMUST00000109877] [ENSMUST00000137936] [ENSMUST00000146172] [ENSMUST00000148755]
Predicted Effect probably benign
Transcript: ENSMUST00000028951
AA Change: R43W

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: R43W

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
AA Change: R43W

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: R43W

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 noncoding transcript
Transcript: ENSMUST00000145434
Predicted Effect probably benign
Transcript: ENSMUST00000146172
SMART Domains Protein: ENSMUSP00000138114
Gene: ENSMUSG00000027457

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148755
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (60/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,466,510 T4091A probably benign Het
Adgrv1 G A 13: 81,283,416 probably benign Het
Ago3 C T 4: 126,367,751 V435I probably benign Het
Akap10 C T 11: 61,916,189 A72T probably damaging Het
Ampd2 G T 3: 108,079,042 Q273K probably benign Het
Ankrd35 C A 3: 96,680,473 H109Q probably damaging Het
Atpaf2 A G 11: 60,405,869 L153S possibly damaging Het
C1qtnf7 G A 5: 43,615,814 V152M probably benign Het
Ccnb1 C G 13: 100,781,775 Q121H possibly damaging Het
Cep295 C T 9: 15,332,120 C1680Y probably benign Het
Cyp4f15 A T 17: 32,690,740 I104F probably benign Het
Daam1 A G 12: 71,947,125 N434S unknown Het
Dab2ip C T 2: 35,720,491 P782L possibly damaging Het
Dhx34 C A 7: 16,205,480 G663* probably null Het
Dnah7a T C 1: 53,423,287 D3715G probably damaging Het
Dnajc11 C T 4: 151,969,939 R201C probably damaging Het
Erf A T 7: 25,246,265 I27N probably damaging Het
Fbxl7 T A 15: 26,543,421 Y380F probably damaging Het
Gm3336 A G 8: 70,720,461 probably benign Het
Gm4787 G C 12: 81,377,830 T518S probably benign Het
Gm5134 T C 10: 75,976,366 Y152H probably damaging Het
Gm6899 A G 11: 26,593,795 probably benign Het
Gna11 T C 10: 81,544,873 K19E probably benign Het
Gpr15 C A 16: 58,717,885 L280F probably benign Het
Grhl3 T A 4: 135,559,104 K89* probably null Het
Ino80d C A 1: 63,086,329 probably benign Het
Irak3 T G 10: 120,145,782 K406T probably damaging Het
Kif15 G A 9: 122,999,210 C634Y probably damaging Het
Lin9 T A 1: 180,669,198 L351I probably benign Het
Macrod2 A T 2: 140,395,716 E14V probably damaging Het
Matn3 T A 12: 8,955,374 D261E probably benign Het
Mdga1 A T 17: 29,857,736 probably benign Het
Natd1 G T 11: 60,913,656 R24S probably benign Het
Ncapd3 T A 9: 27,051,645 D415E possibly damaging Het
Olfr1453 A T 19: 13,027,412 S306T probably benign Het
Parp9 T A 16: 35,953,736 Y81* probably null Het
Pde4d A G 13: 109,740,473 N73S probably benign Het
Pigb A T 9: 73,034,590 I129N probably damaging Het
Plxnb1 C A 9: 109,111,693 probably null Het
Ppfibp1 G T 6: 147,027,321 R813L probably damaging Het
Ramp3 T A 11: 6,658,619 L16Q unknown Het
Slc35a4 T C 18: 36,682,635 S173P probably benign Het
Slc41a1 T C 1: 131,844,377 V415A probably damaging Het
Smarcc2 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 10: 128,487,362 probably benign Het
Sptan1 A T 2: 29,993,724 probably benign Het
Supt20 C A 3: 54,709,085 H254Q probably benign Het
Taar7a A G 10: 23,993,148 C112R probably damaging Het
Tbc1d4 T C 14: 101,507,572 Y206C probably damaging Het
Tecta A G 9: 42,337,208 V1961A probably damaging Het
Tgfbr1 T A 4: 47,383,948 Y30* probably null Het
Tmem71 C T 15: 66,555,214 S44N probably benign Het
Tnfrsf1b C A 4: 145,227,497 C94F probably damaging Het
Ttn A G 2: 76,749,396 Y23718H probably damaging Het
Ube2i T C 17: 25,265,294 probably benign Het
Vmn2r16 G T 5: 109,330,525 V49F probably benign Het
Vps45 A G 3: 96,046,371 I223T possibly damaging Het
Zfp955a T C 17: 33,242,618 Y180C probably benign Het
Zhx1 C G 15: 58,054,074 G259R probably damaging Het
Zscan18 T A 7: 12,775,289 probably benign Het
Other mutations in Snph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Snph APN 2 151594173 nonsense probably null
IGL02017:Snph APN 2 151600982 missense probably damaging 1.00
IGL02029:Snph APN 2 151593607 missense probably damaging 1.00
IGL02186:Snph APN 2 151594343 missense possibly damaging 0.67
R0621:Snph UTSW 2 151593722 missense probably damaging 1.00
R1311:Snph UTSW 2 151597202 missense probably damaging 1.00
R1660:Snph UTSW 2 151594478 nonsense probably null
R3753:Snph UTSW 2 151593454 missense probably benign 0.00
R3923:Snph UTSW 2 151593511 missense probably damaging 1.00
R4081:Snph UTSW 2 151593802 missense probably damaging 1.00
R4082:Snph UTSW 2 151593802 missense probably damaging 1.00
R4461:Snph UTSW 2 151593847 missense probably benign 0.00
R4462:Snph UTSW 2 151594115 missense probably damaging 1.00
R4463:Snph UTSW 2 151594115 missense probably damaging 1.00
R4619:Snph UTSW 2 151594514 nonsense probably null
R5042:Snph UTSW 2 151601057 missense possibly damaging 0.66
R5184:Snph UTSW 2 151594544 missense probably damaging 1.00
R5925:Snph UTSW 2 151594231 missense probably damaging 1.00
R7169:Snph UTSW 2 151594387 missense probably damaging 1.00
R7243:Snph UTSW 2 151594253 missense probably damaging 0.99
R7417:Snph UTSW 2 151600343 missense probably damaging 1.00
R7607:Snph UTSW 2 151594586 missense probably damaging 1.00
R8517:Snph UTSW 2 151593721 missense probably damaging 0.99
X0024:Snph UTSW 2 151594204 missense probably benign 0.37
Z1177:Snph UTSW 2 151593634 missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- CATGCCCATCTTTCAGACAGG -3'
(R):5'- TGTTCGCAACCTGTCTAGCC -3'

Sequencing Primer
(F):5'- TGCCAGGAAGCGTGCTAG -3'
(R):5'- ATGTAGGAGGGTCAGCCACC -3'
Posted On2016-07-06