Incidental Mutation 'IGL03366:Sytl5'
ID 420096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sytl5
Ensembl Gene ENSMUSG00000054453
Gene Name synaptotagmin-like 5
Synonyms ENSMUSG00000054453
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # IGL03366
Quality Score
Status
Chromosome X
Chromosomal Location 9751861-9860782 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9829939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 538 (D538G)
Ref Sequence ENSEMBL: ENSMUSP00000064826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067529] [ENSMUST00000086165]
AlphaFold Q80T23
Predicted Effect probably damaging
Transcript: ENSMUST00000067529
AA Change: D538G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064826
Gene: ENSMUSG00000054453
AA Change: D538G

DomainStartEndE-ValueType
Pfam:FYVE_2 11 124 6.9e-21 PFAM
low complexity region 224 237 N/A INTRINSIC
low complexity region 313 332 N/A INTRINSIC
C2 445 549 1.51e-15 SMART
low complexity region 593 610 N/A INTRINSIC
C2 611 728 1.86e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086165
AA Change: D516G

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000083339
Gene: ENSMUSG00000054453
AA Change: D516G

DomainStartEndE-ValueType
Pfam:FYVE_2 11 124 2.1e-21 PFAM
low complexity region 224 237 N/A INTRINSIC
low complexity region 313 332 N/A INTRINSIC
C2 423 527 1.51e-15 SMART
low complexity region 571 588 N/A INTRINSIC
C2 589 706 1.86e-15 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 T A 7: 141,209,186 (GRCm39) S793T probably benign Het
Btnl6 T C 17: 34,727,153 (GRCm39) D459G probably damaging Het
Cacna1g C A 11: 94,347,977 (GRCm39) D704Y probably damaging Het
Cby2 A G 14: 75,820,829 (GRCm39) S299P probably benign Het
Cry2 A G 2: 92,244,060 (GRCm39) I371T probably damaging Het
Dock3 A T 9: 106,882,632 (GRCm39) F384I probably benign Het
Dpp4 T C 2: 62,187,301 (GRCm39) probably null Het
Hecw1 G T 13: 14,552,382 (GRCm39) D72E probably damaging Het
Htt T A 5: 35,064,924 (GRCm39) W3046R probably damaging Het
Hydin A T 8: 110,993,995 (GRCm39) N10Y unknown Het
Ighv8-8 T A 12: 115,257,760 (GRCm39) T94S probably benign Het
Igkv4-58 A G 6: 69,477,538 (GRCm39) S20P probably damaging Het
Il4i1 T C 7: 44,486,919 (GRCm39) probably benign Het
Kif13a A T 13: 46,918,099 (GRCm39) S403T probably benign Het
Klhl40 T C 9: 121,612,446 (GRCm39) L616P probably damaging Het
Krt7 T C 15: 101,325,491 (GRCm39) L440P possibly damaging Het
Lpin1 A G 12: 16,594,678 (GRCm39) L755P probably damaging Het
Magee2 C A X: 103,899,134 (GRCm39) E506* probably null Het
Mast3 G A 8: 71,234,207 (GRCm39) R143* probably null Het
Med12 T A X: 100,321,695 (GRCm39) H459Q probably benign Het
Mmp3 T C 9: 7,450,149 (GRCm39) S294P probably benign Het
Muc6 T C 7: 141,234,349 (GRCm39) Y714C probably damaging Het
Myh2 T C 11: 67,074,349 (GRCm39) L662S probably damaging Het
Notch4 G T 17: 34,791,542 (GRCm39) C567F probably damaging Het
Nprl3 A G 11: 32,200,256 (GRCm39) I20T probably damaging Het
Or10ag2 A T 2: 87,248,587 (GRCm39) D65V possibly damaging Het
Pcdhb19 A G 18: 37,631,665 (GRCm39) T487A possibly damaging Het
Phlpp2 A G 8: 110,667,467 (GRCm39) E1332G probably benign Het
Pick1 T C 15: 79,125,481 (GRCm39) S113P probably damaging Het
Ptpru T C 4: 131,507,178 (GRCm39) E1023G probably damaging Het
Rspry1 A C 8: 95,376,962 (GRCm39) I382L probably benign Het
Sf3b3 A C 8: 111,566,586 (GRCm39) V248G probably damaging Het
Smg5 T A 3: 88,253,759 (GRCm39) Y126* probably null Het
Spin1 T C 13: 51,281,973 (GRCm39) V22A probably benign Het
Stab1 C T 14: 30,872,220 (GRCm39) R1189Q possibly damaging Het
Taar7e T A 10: 23,913,813 (GRCm39) M101K probably damaging Het
Taf4 A G 2: 179,576,847 (GRCm39) V578A probably damaging Het
Tmem266 G T 9: 55,344,517 (GRCm39) C383F probably benign Het
Trim34a T C 7: 103,910,140 (GRCm39) probably null Het
Vmn2r104 T C 17: 20,249,866 (GRCm39) T802A probably damaging Het
Vmn2r32 A C 7: 7,467,029 (GRCm39) I833S probably damaging Het
Vmn2r85 T C 10: 130,262,328 (GRCm39) D137G probably benign Het
Vps13c C T 9: 67,853,308 (GRCm39) S2467L probably benign Het
Other mutations in Sytl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Sytl5 APN X 9,771,834 (GRCm39) missense probably benign
IGL02072:Sytl5 APN X 9,829,825 (GRCm39) splice site probably benign
H8562:Sytl5 UTSW X 9,826,335 (GRCm39) missense probably benign 0.35
R0729:Sytl5 UTSW X 9,860,736 (GRCm39) missense probably damaging 1.00
R4429:Sytl5 UTSW X 9,826,262 (GRCm39) missense probably damaging 1.00
R4430:Sytl5 UTSW X 9,826,262 (GRCm39) missense probably damaging 1.00
R4431:Sytl5 UTSW X 9,826,262 (GRCm39) missense probably damaging 1.00
R4910:Sytl5 UTSW X 9,781,841 (GRCm39) missense possibly damaging 0.51
R4911:Sytl5 UTSW X 9,781,841 (GRCm39) missense possibly damaging 0.51
Posted On 2016-08-02