Incidental Mutation 'IGL00572:Sypl'
ID14328
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? Non essential (E-score: 0.000) question?
Stock #IGL00572
Quality Score
Status
Chromosome12
Chromosomal Location32953891-32979860 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 32954294 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 2 (S2T)
Ref Sequence ENSEMBL: ENSMUSP00000122695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020885] [ENSMUST00000076698] [ENSMUST00000122861]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020885
AA Change: S2T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020885
Gene: ENSMUSG00000020570
AA Change: S2T

DomainStartEndE-ValueType
Pfam:MARVEL 10 215 6.9e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000076698
AA Change: S20T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075990
Gene: ENSMUSG00000020570
AA Change: S20T

DomainStartEndE-ValueType
Pfam:MARVEL 28 233 1.3e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122861
AA Change: S2T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181670
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A G 17: 55,820,648 I563V probably benign Het
Adgrl2 A G 3: 148,826,498 L1033P probably damaging Het
Aqr A C 2: 114,125,942 I840M possibly damaging Het
Bmper G A 9: 23,406,527 V481M probably damaging Het
Chd8 T C 14: 52,226,138 E683G probably damaging Het
Cpn1 A G 19: 43,963,829 V338A probably damaging Het
Cs A G 10: 128,360,964 probably benign Het
Gm4540 C T 3: 106,034,807 probably benign Het
Gm884 A G 11: 103,615,410 F1911L probably benign Het
Hdc A G 2: 126,601,872 F296L probably benign Het
Helt T C 8: 46,293,522 E32G probably damaging Het
Hivep1 C T 13: 42,158,871 A1529V probably benign Het
Klk1b4 A T 7: 44,210,774 H104L possibly damaging Het
Ncf2 C A 1: 152,808,174 T48N possibly damaging Het
Phkg1 G A 5: 129,865,073 Q274* probably null Het
Slc1a2 A G 2: 102,777,576 D520G possibly damaging Het
Slc25a10 G T 11: 120,497,107 probably null Het
Slc8a1 A T 17: 81,388,726 S960T probably damaging Het
Sp140 G A 1: 85,621,672 R208K probably benign Het
St7 A G 6: 17,855,006 E245G probably damaging Het
Tbx20 T C 9: 24,725,688 T368A probably benign Het
Tmem126a T C 7: 90,450,832 T168A probably benign Het
Ttn T C 2: 76,746,590 D24653G probably damaging Het
Ttn A G 2: 76,946,979 S1360P probably damaging Het
Uggt2 A T 14: 119,042,791 F282L probably benign Het
Usp36 A T 11: 118,264,820 N875K possibly damaging Het
Usp9x C A X: 13,125,576 H869N probably benign Het
Xpnpep1 T C 19: 53,010,148 E223G probably benign Het
Zfp729a G A 13: 67,619,321 P930S probably benign Het
Zscan10 G A 17: 23,609,461 V216M probably damaging Het
Other mutations in Sypl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Sypl APN 12 32965506 splice site probably benign
IGL01778:Sypl APN 12 32975642 missense probably damaging 1.00
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 probably benign
Posted On2012-12-06