Incidental Mutation 'R1335:Sytl4'
ID 156860
Institutional Source Beutler Lab
Gene Symbol Sytl4
Ensembl Gene ENSMUSG00000031255
Gene Name synaptotagmin-like 4
Synonyms granuphilin-a, Slp4, granuphilin-b
MMRRC Submission 039400-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R1335 (G1)
Quality Score 139
Status Validated
Chromosome X
Chromosomal Location 132837134-132882561 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) GAAAAAA to GAAAAA at 132861875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033608] [ENSMUST00000113294] [ENSMUST00000113297] [ENSMUST00000174542]
AlphaFold Q9R0Q1
Predicted Effect probably benign
Transcript: ENSMUST00000033608
SMART Domains Protein: ENSMUSP00000033608
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
C2 529 634 3.37e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113294
SMART Domains Protein: ENSMUSP00000108919
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
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174091
Predicted Effect probably benign
Transcript: ENSMUST00000174542
SMART Domains Protein: ENSMUSP00000134030
Gene: ENSMUSG00000031255

DomainStartEndE-ValueType
RING 63 105 2.84e-1 SMART
low complexity region 169 180 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
Validation Efficiency 100% (32/32)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Cd209d T A 8: 3,922,027 (GRCm39) D185V probably damaging Het
Cdc42bpb T C 12: 111,262,875 (GRCm39) Y1484C probably damaging Het
Cdh9 T C 15: 16,850,878 (GRCm39) V549A probably benign Het
Cmya5 C T 13: 93,178,043 (GRCm39) V3604M possibly damaging Het
Eprs1 T A 1: 185,119,286 (GRCm39) W489R probably damaging Het
Galnt14 T A 17: 73,833,285 (GRCm39) I230F probably damaging Het
Gm19965 A G 1: 116,732,349 (GRCm39) K64R possibly damaging Het
Gpr141 T G 13: 19,936,034 (GRCm39) Y247S possibly damaging Het
Ivd A T 2: 118,699,923 (GRCm39) H52L probably benign Het
Mcoln2 A G 3: 145,885,929 (GRCm39) H260R probably benign Het
Mdga2 T C 12: 66,763,516 (GRCm39) probably null Het
Mtarc1 C T 1: 184,536,138 (GRCm39) R98Q probably benign Het
Ndrg3 T C 2: 156,787,928 (GRCm39) probably benign Het
Or2l13 T C 16: 19,305,803 (GRCm39) Y72H probably benign Het
Pcdhb17 A T 18: 37,619,287 (GRCm39) N359I probably damaging Het
Phf24 G A 4: 42,934,657 (GRCm39) V98I probably benign Het
Pkhd1 C A 1: 20,641,629 (GRCm39) G270W probably damaging Het
Pkhd1l1 G A 15: 44,368,943 (GRCm39) V863I probably damaging Het
Prss51 T G 14: 64,333,620 (GRCm39) probably null Het
Scarb2 C T 5: 92,599,205 (GRCm39) probably null Het
Simc1 ACCA ACCANNNNNNNNNNNNNNNNNNCCA 13: 54,673,078 (GRCm39) probably benign Het
Slco1c1 T A 6: 141,487,853 (GRCm39) Y192N probably damaging Het
Smco2 T C 6: 146,763,585 (GRCm39) probably benign Het
Snx13 A G 12: 35,182,123 (GRCm39) D724G probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Tnr A G 1: 159,695,600 (GRCm39) T508A probably benign Het
Vmn1r30 A G 6: 58,412,080 (GRCm39) S251P probably damaging Het
Zdhhc16 T A 19: 41,929,073 (GRCm39) probably null Het
Other mutations in Sytl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02999:Sytl4 APN X 132,838,727 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CAGGTCCTTCAAACAGCCTCTAGC -3'
(R):5'- TGTGAGTATCACTTCGTGGCAGC -3'

Sequencing Primer
(F):5'- CTCTAGCCCTGAACAATACCTG -3'
(R):5'- gaaggaagttggggcagg -3'
Posted On 2014-02-11