Incidental Mutation 'IGL01778:Sypl'
ID153756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sypl
Ensembl Gene ENSMUSG00000020570
Gene Namesynaptophysin-like protein
SynonymsPphn, Pan I, D12Ertd446e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL01778
Quality Score
Status
Chromosome12
Chromosomal Location32953891-32979860 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32975642 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 235 (Y235C)
Ref Sequence ENSEMBL: ENSMUSP00000075990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020885] [ENSMUST00000076698] [ENSMUST00000122861]
Predicted Effect probably damaging
Transcript: ENSMUST00000020885
AA Change: Y217C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020885
Gene: ENSMUSG00000020570
AA Change: Y217C

DomainStartEndE-ValueType
Pfam:MARVEL 10 215 6.9e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000076698
AA Change: Y235C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075990
Gene: ENSMUSG00000020570
AA Change: Y235C

DomainStartEndE-ValueType
Pfam:MARVEL 28 233 1.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218816
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T C 4: 154,666,705 K325E probably benign Het
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Depdc1b T G 13: 108,362,327 N181K probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Epyc T A 10: 97,681,237 C312* probably null Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Gtf3c4 G A 2: 28,835,088 R211C probably damaging Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Mdm4 A G 1: 132,994,547 S286P probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Pofut1 T A 2: 153,248,528 M114K probably damaging Het
Rdh13 C T 7: 4,430,389 probably null Het
Reg3g T A 6: 78,466,833 I131F probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Slfn9 A T 11: 82,987,374 C310S probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Trim28 T A 7: 13,030,702 V782D probably damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Usp6nl A G 2: 6,427,570 T260A possibly damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign Het
Other mutations in Sypl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Sypl APN 12 32954294 missense probably damaging 0.99
IGL00824:Sypl APN 12 32965506 splice site probably benign
IGL02716:Sypl APN 12 32967669 missense probably damaging 1.00
R0524:Sypl UTSW 12 32967565 missense possibly damaging 0.69
R0639:Sypl UTSW 12 32965421 missense probably damaging 1.00
R0673:Sypl UTSW 12 32965421 missense probably damaging 1.00
R1463:Sypl UTSW 12 32974333 unclassified probably benign
R4829:Sypl UTSW 12 32967646 missense probably damaging 1.00
R7102:Sypl UTSW 12 32974255 missense not run
Posted On2014-02-04