Incidental Mutation 'IGL02999:Sytl4'
ID 407222
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sytl4
Ensembl Gene ENSMUSG00000031255
Gene Name synaptotagmin-like 4
Synonyms granuphilin-a, Slp4, granuphilin-b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL02999
Quality Score
Status
Chromosome X
Chromosomal Location 132837134-132882561 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 132838727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 649 (R649Q)
Ref Sequence ENSEMBL: ENSMUSP00000033608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033608] [ENSMUST00000113297]
AlphaFold Q9R0Q1
Predicted Effect probably benign
Transcript: ENSMUST00000033608
AA Change: R649Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033608
Gene: ENSMUSG00000031255
AA Change: R649Q

DomainStartEndE-ValueType
RING 63 105 2.84e-1 SMART
low complexity region 169 180 N/A INTRINSIC
low complexity region 194 222 N/A INTRINSIC
coiled coil region 305 326 N/A INTRINSIC
C2 374 479 9.98e-16 SMART
C2 529 634 3.37e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113297
SMART Domains Protein: ENSMUSP00000108922
Gene: ENSMUSG00000031255

DomainStartEndE-ValueType
RING 63 105 2.84e-1 SMART
low complexity region 169 180 N/A INTRINSIC
low complexity region 194 222 N/A INTRINSIC
coiled coil region 305 326 N/A INTRINSIC
C2 374 479 9.98e-16 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the synaptotagmin like protein family. Members of this family are characterized by an N-terminal Rab27 binding domain and C-terminal tandem C2 domains. The encoded protein binds specific small Rab GTPases and is involved in intracellular membrane trafficking. This protein binds Rab27 and may be involved in inhibiting dense core vesicle exocytosis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Mar 2010]
PHENOTYPE: Targeted inactivation of this gene leads to reduced body weight, enhanced glucose tolerance, defective granule docking at the plasma membrane in pancreatic beta cells and corticotrophs, and a significant increase in evoked insulin and adrenocorticotropinsecretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,903,424 (GRCm39) R297S possibly damaging Het
Abca13 G A 11: 9,531,757 (GRCm39) probably benign Het
Acot12 T A 13: 91,908,100 (GRCm39) V94D probably damaging Het
Adgrv1 C T 13: 81,726,973 (GRCm39) A460T probably benign Het
Atp8a2 C A 14: 60,162,571 (GRCm39) E717* probably null Het
Brinp3 A T 1: 146,577,587 (GRCm39) probably null Het
Camk1d C A 2: 5,359,516 (GRCm39) V177L probably benign Het
Chst11 A G 10: 83,027,538 (GRCm39) I322V possibly damaging Het
Cobl T C 11: 12,293,869 (GRCm39) T296A possibly damaging Het
Dcc A C 18: 71,511,749 (GRCm39) F869V possibly damaging Het
Dock2 G T 11: 34,583,086 (GRCm39) T609K probably damaging Het
Ercc5 A G 1: 44,206,814 (GRCm39) T576A probably benign Het
Faf1 A G 4: 109,719,090 (GRCm39) I399V probably benign Het
Fndc3b T G 3: 27,592,388 (GRCm39) E170A probably damaging Het
Ggt7 C A 2: 155,344,633 (GRCm39) V237L probably benign Het
Hectd1 G T 12: 51,874,205 (GRCm39) Q24K possibly damaging Het
Krt19 T C 11: 100,032,235 (GRCm39) probably benign Het
Lilrb4a T C 10: 51,370,239 (GRCm39) L259P probably damaging Het
Limd1 T C 9: 123,345,864 (GRCm39) Y548H probably damaging Het
Lingo2 A G 4: 35,708,744 (GRCm39) I412T probably damaging Het
Lrrc34 T A 3: 30,688,782 (GRCm39) Q173L probably damaging Het
Lrrn3 A T 12: 41,502,750 (GRCm39) N522K probably benign Het
Mgat4e A C 1: 134,468,928 (GRCm39) L372R probably damaging Het
Nedd4l A G 18: 65,331,778 (GRCm39) D638G probably damaging Het
Olfm3 T C 3: 114,916,397 (GRCm39) M423T probably damaging Het
Or8g54 T C 9: 39,706,752 (GRCm39) L27P probably damaging Het
Pcsk7 T A 9: 45,838,897 (GRCm39) I603N possibly damaging Het
Ptpn2 A G 18: 67,814,580 (GRCm39) V143A probably damaging Het
Rabgap1 C A 2: 37,373,838 (GRCm39) D283E possibly damaging Het
Reln G A 5: 22,200,363 (GRCm39) S1379F probably damaging Het
Rpap2 T A 5: 107,749,697 (GRCm39) F74I possibly damaging Het
Sel1l2 T C 2: 140,072,724 (GRCm39) E637G probably damaging Het
Slc28a2b T C 2: 122,344,995 (GRCm39) probably benign Het
St18 T A 1: 6,887,829 (GRCm39) V466E probably benign Het
Stac C A 9: 111,433,198 (GRCm39) G207C probably damaging Het
Stra6 T A 9: 58,042,396 (GRCm39) N8K probably benign Het
Tas1r3 A G 4: 155,946,816 (GRCm39) V263A probably damaging Het
Tprg1 T C 16: 25,136,218 (GRCm39) Y70H probably damaging Het
Other mutations in Sytl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0463:Sytl4 UTSW X 132,862,936 (GRCm39) missense probably benign 0.01
R0608:Sytl4 UTSW X 132,862,936 (GRCm39) missense probably benign 0.01
R1335:Sytl4 UTSW X 132,861,875 (GRCm39) splice site probably benign
R4430:Sytl4 UTSW X 132,849,972 (GRCm39) missense probably damaging 0.98
X0066:Sytl4 UTSW X 132,849,859 (GRCm39) missense probably benign 0.10
Posted On 2016-08-02