Incidental Mutation 'IGL00824:Sypl'
ID14329
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 #IGL00824
Quality Score
Status
Chromosome12
Chromosomal Location32953891-32979860 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 32965506 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020885] [ENSMUST00000076698] [ENSMUST00000122861]
Predicted Effect probably benign
Transcript: ENSMUST00000020885
SMART Domains Protein: ENSMUSP00000020885
Gene: ENSMUSG00000020570

DomainStartEndE-ValueType
Pfam:MARVEL 10 215 6.9e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076698
SMART Domains Protein: ENSMUSP00000075990
Gene: ENSMUSG00000020570

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,683,589 I837V possibly damaging Het
Atl1 A G 12: 69,932,238 T147A probably damaging Het
Cdh17 A G 4: 11,784,675 K277R probably benign Het
Cyp2j5 A G 4: 96,663,923 F30L probably benign Het
Hmcn1 A T 1: 150,656,734 V3134E probably damaging Het
Il2ra T C 2: 11,683,099 V230A probably benign Het
Mgst2 C T 3: 51,682,578 P146S probably benign Het
Myrfl T C 10: 116,849,359 probably benign Het
Nat8f5 A C 6: 85,817,297 L227R probably damaging Het
Osbpl2 G A 2: 180,150,267 V255M probably benign Het
Papln A G 12: 83,770,436 S27G possibly damaging Het
Paqr7 A G 4: 134,506,967 Y45C probably damaging Het
Pkhd1 A G 1: 20,081,184 probably null Het
Plrg1 C T 3: 83,068,335 T295I probably damaging Het
Tmco3 T A 8: 13,292,825 V187E probably damaging Het
Trmt2b T C X: 134,267,405 I47M possibly damaging Het
Vmn2r61 T A 7: 42,267,014 N350K probably benign Het
Zfp687 A G 3: 95,009,185 L842P probably damaging Het
Other mutations in Sypl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Sypl APN 12 32954294 missense probably damaging 0.99
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