Incidental Mutation 'R4430:Sytl5'
ID 328587
Institutional Source Beutler Lab
Gene Symbol Sytl5
Ensembl Gene ENSMUSG00000054453
Gene Name synaptotagmin-like 5
Synonyms ENSMUSG00000054453
MMRRC Submission 041700-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R4430 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 9751861-9860782 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9826262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 412 (N412Y)
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: N412Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064826
Gene: ENSMUSG00000054453
AA Change: N412Y

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 damaging
Transcript: ENSMUST00000086165
AA Change: N390Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083339
Gene: ENSMUSG00000054453
AA Change: N390Y

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
Meta Mutation Damage Score 0.2006 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Aak1 A G 6: 86,963,348 (GRCm39) N926S unknown Het
Ahi1 T A 10: 20,847,977 (GRCm39) C462S probably damaging Het
Ahnak A G 19: 8,980,404 (GRCm39) I563V probably benign Het
Ankrd55 G A 13: 112,459,717 (GRCm39) probably null Het
Bag3 A G 7: 128,125,647 (GRCm39) D22G probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col15a1 T C 4: 47,245,705 (GRCm39) F152S probably damaging Het
Cxcr2 T C 1: 74,198,004 (GRCm39) I166T probably benign Het
Dnah11 T C 12: 117,946,746 (GRCm39) I3113V probably benign Het
Gli2 T C 1: 118,764,974 (GRCm39) H1059R probably benign Het
Gm14412 C A 2: 177,007,625 (GRCm39) S90I probably benign Het
L1td1 A G 4: 98,625,388 (GRCm39) R528G probably benign Het
Mcm3 A T 1: 20,882,217 (GRCm39) L449* probably null Het
Mif4gd T C 11: 115,499,328 (GRCm39) T185A probably benign Het
Mphosph9 T C 5: 124,403,509 (GRCm39) S840G possibly damaging Het
Nherf4 C T 9: 44,161,041 (GRCm39) S175N probably benign Het
Nim1k C A 13: 120,174,078 (GRCm39) R272L possibly damaging Het
Or5b104 C T 19: 13,072,452 (GRCm39) V187I probably benign Het
Or6c213 T A 10: 129,574,130 (GRCm39) I219F probably damaging Het
Or8k32 A G 2: 86,368,731 (GRCm39) I176T probably damaging Het
Pax3 A G 1: 78,171,961 (GRCm39) V83A probably damaging Het
Pde3b C T 7: 114,133,905 (GRCm39) P974S probably damaging Het
Pglyrp3 T A 3: 91,938,798 (GRCm39) D324E probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Ryr2 A G 13: 11,750,413 (GRCm39) S1953P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox5 A G 6: 143,987,000 (GRCm39) I188T possibly damaging Het
Spata4 T C 8: 55,054,878 (GRCm39) I86T probably benign Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Stk10 T C 11: 32,483,552 (GRCm39) V50A possibly damaging Het
Sytl4 A G,T X: 132,849,972 (GRCm39) S338R probably damaging Homo
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem201 A C 4: 149,815,596 (GRCm39) V118G probably benign Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Ugt2b37 T C 5: 87,401,951 (GRCm39) M227V probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r73 A T 7: 85,519,449 (GRCm39) M503K probably benign Het
Zfp54 T G 17: 21,655,222 (GRCm39) V572G probably damaging 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
IGL03366:Sytl5 APN X 9,829,939 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTTTCAGCAAACGTCCTGCC -3'
(R):5'- TGACAAGGAAGTGTGCATGC -3'

Sequencing Primer
(F):5'- CCTTTCCTAATGGATCTACATGGGG -3'
(R):5'- GGGCATCCTCCGTGCTTAC -3'
Posted On 2015-07-21