Incidental Mutation 'IGL02716:Sypl'
ID304760
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 #IGL02716
Quality Score
Status
Chromosome12
Chromosomal Location32953891-32979860 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 32967669 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 129 (Y129N)
Ref Sequence ENSEMBL: ENSMUSP00000075990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020885] [ENSMUST00000076698] [ENSMUST00000122861]
Predicted Effect probably damaging
Transcript: ENSMUST00000020885
AA Change: Y111N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020885
Gene: ENSMUSG00000020570
AA Change: Y111N

DomainStartEndE-ValueType
Pfam:MARVEL 10 215 6.9e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000076698
AA Change: Y129N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075990
Gene: ENSMUSG00000020570
AA Change: Y129N

DomainStartEndE-ValueType
Pfam:MARVEL 28 233 1.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218816
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,327,276 S212P probably benign Het
Ago2 C T 15: 73,111,727 R711Q possibly damaging Het
Akp3 A C 1: 87,125,479 D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 Q169L possibly damaging Het
Aspm A G 1: 139,479,687 Y2104C probably damaging Het
Baz2b G A 2: 59,962,524 S420L possibly damaging Het
Cenpo T C 12: 4,215,390 N210S possibly damaging Het
Chadl T C 15: 81,695,915 N40D probably damaging Het
Crebbp T C 16: 4,114,878 E586G probably benign Het
Cts7 T A 13: 61,356,608 Q47L probably benign Het
Cyp2c40 C A 19: 39,807,536 D133Y possibly damaging Het
Dnah3 A T 7: 119,937,023 M3679K probably damaging Het
Dym T C 18: 75,286,683 Y642H probably damaging Het
Efr3b T C 12: 3,984,627 D65G probably damaging Het
Elmo1 T A 13: 20,449,502 F445I probably damaging Het
Epdr1 C T 13: 19,594,570 V119M probably benign Het
Epha4 G T 1: 77,380,965 R799S probably damaging Het
Esyt3 A T 9: 99,317,224 V778E probably damaging Het
F10 A T 8: 13,048,177 K127* probably null Het
Fcgbp G A 7: 28,101,434 E1302K probably damaging Het
Fer1l4 A G 2: 156,029,715 F1382L probably damaging Het
Fhad1 T C 4: 141,918,331 I318V possibly damaging Het
Fscn2 A T 11: 120,366,724 T304S probably benign Het
Gab1 A T 8: 80,769,694 L659Q probably damaging Het
Gm4845 A C 1: 141,256,838 noncoding transcript Het
Gm572 A G 4: 148,654,870 M52V probably benign Het
Hmgcr T C 13: 96,660,012 probably null Het
Kcnk5 T C 14: 20,181,428 T9A probably damaging Het
Krt87 A C 15: 101,434,604 F243V possibly damaging Het
Mast1 G T 8: 84,935,723 P52Q probably damaging Het
Mcf2l A T 8: 12,997,277 Q211L probably benign Het
Mtus2 C A 5: 148,236,310 P968T probably benign Het
Mylk2 T C 2: 152,922,153 *614R probably null Het
Myo15b A T 11: 115,883,709 E2049V probably benign Het
Myo6 A T 9: 80,269,694 H581L probably damaging Het
Numb A T 12: 83,801,208 S241T possibly damaging Het
Olfr1265 G T 2: 90,037,794 V292L probably benign Het
Olfr1283 A T 2: 111,368,781 I50F probably benign Het
Olfr338 A G 2: 36,377,343 D189G possibly damaging Het
Phldb2 A G 16: 45,801,590 S676P probably damaging Het
Rttn G A 18: 89,048,417 E1196K possibly damaging Het
Skiv2l2 T G 13: 112,883,146 D810A probably benign Het
Slc13a3 G A 2: 165,406,715 P548S unknown Het
Slc2a7 A G 4: 150,160,010 probably benign Het
Slc37a1 T C 17: 31,328,161 S261P possibly damaging Het
Spryd3 T A 15: 102,133,461 Y42F possibly damaging Het
Srrm3 A G 5: 135,854,433 probably null Het
Stambp G A 6: 83,556,390 T297I probably damaging Het
Syt14 G A 1: 192,980,535 P368S possibly damaging Het
Tas2r122 T C 6: 132,711,264 D222G probably damaging Het
Tead2 C A 7: 45,232,296 Y79* probably null Het
Tmem251 A G 12: 102,744,829 T104A probably benign Het
Uso1 T C 5: 92,173,935 V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 S97P probably damaging Het
Vmn2r82 T A 10: 79,377,844 V88D probably benign Het
Vps29 A G 5: 122,362,066 T85A probably benign Het
Wdr90 T A 17: 25,857,220 S500C probably damaging Het
Zfp958 G A 8: 4,625,967 probably null 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
IGL01778:Sypl APN 12 32975642 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 On2015-04-16