Incidental Mutation 'IGL01778:Sypl1'
ID 153756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sypl1
Ensembl Gene ENSMUSG00000020570
Gene Name synaptophysin like 1
Synonyms D12Ertd446e, Pphn, Pan I, Sypl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01778
Quality Score
Status
Chromosome 12
Chromosomal Location 33003874-33029503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33025641 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O09117
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: 154,751,162 (GRCm39) K325E probably benign Het
Arc C T 15: 74,544,204 (GRCm39) M6I probably benign Het
Atp7b A T 8: 22,484,844 (GRCm39) D1404E probably benign Het
Cdk5rap1 T A 2: 154,207,956 (GRCm39) N156I probably damaging Het
Ctsa T C 2: 164,676,230 (GRCm39) probably benign Het
Depdc1b T G 13: 108,498,861 (GRCm39) N181K probably benign Het
Epg5 T C 18: 78,062,489 (GRCm39) V1994A probably damaging Het
Epyc T A 10: 97,517,099 (GRCm39) C312* probably null Het
Erv3 T A 2: 131,697,877 (GRCm39) R161* probably null Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gfra3 T C 18: 34,824,644 (GRCm39) T280A possibly damaging Het
Gldn A T 9: 54,241,776 (GRCm39) probably null Het
Gtf3c4 G A 2: 28,725,100 (GRCm39) R211C probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Hsh2d A G 8: 72,947,351 (GRCm39) D16G probably damaging Het
Klk15 T A 7: 43,588,262 (GRCm39) M190K probably damaging Het
Klri1 A G 6: 129,694,010 (GRCm39) S26P possibly damaging Het
Krt78 T A 15: 101,859,402 (GRCm39) D265V probably damaging Het
Lgr5 A C 10: 115,298,607 (GRCm39) I355S probably damaging Het
Lig3 T A 11: 82,685,367 (GRCm39) V595D probably damaging Het
Map2k6 A C 11: 110,403,695 (GRCm39) probably benign Het
Mdm4 A G 1: 132,922,285 (GRCm39) S286P probably benign Het
Ncoa4-ps T C 12: 119,226,231 (GRCm39) noncoding transcript Het
Or2ak7 A G 11: 58,575,095 (GRCm39) Y132C probably damaging Het
Pofut1 T A 2: 153,090,448 (GRCm39) M114K probably damaging Het
Rdh13 C T 7: 4,433,388 (GRCm39) probably null Het
Reg3g T A 6: 78,443,816 (GRCm39) I131F probably benign Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc8a2 T A 7: 15,892,818 (GRCm39) F827I probably damaging Het
Slfn9 A T 11: 82,878,200 (GRCm39) C310S probably damaging Het
Trav7-4 A T 14: 53,699,098 (GRCm39) T82S possibly damaging Het
Trim28 T A 7: 12,764,629 (GRCm39) V782D probably damaging Het
Ttn G A 2: 76,575,242 (GRCm39) T25217M probably damaging Het
Usp6nl A G 2: 6,432,381 (GRCm39) T260A possibly damaging Het
Vmn2r54 A T 7: 12,366,009 (GRCm39) N308K probably benign Het
Xdh T C 17: 74,207,275 (GRCm39) E986G probably benign Het
Zfp770 T C 2: 114,026,719 (GRCm39) D450G probably damaging Het
Zw10 T G 9: 48,980,915 (GRCm39) S438R probably benign Het
Other mutations in Sypl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Sypl1 APN 12 33,004,293 (GRCm39) missense probably damaging 0.99
IGL00824:Sypl1 APN 12 33,015,505 (GRCm39) splice site probably benign
IGL02716:Sypl1 APN 12 33,017,668 (GRCm39) missense probably damaging 1.00
R0524:Sypl1 UTSW 12 33,017,564 (GRCm39) missense possibly damaging 0.69
R0639:Sypl1 UTSW 12 33,015,420 (GRCm39) missense probably damaging 1.00
R0673:Sypl1 UTSW 12 33,015,420 (GRCm39) missense probably damaging 1.00
R1463:Sypl1 UTSW 12 33,024,332 (GRCm39) unclassified probably benign
R4829:Sypl1 UTSW 12 33,017,645 (GRCm39) missense probably damaging 1.00
R7102:Sypl1 UTSW 12 33,024,254 (GRCm39) missense probably benign
R8993:Sypl1 UTSW 12 33,025,662 (GRCm39) missense probably benign 0.05
R9199:Sypl1 UTSW 12 33,016,463 (GRCm39) intron probably benign
Posted On 2014-02-04