Incidental Mutation 'IGL01064:Sytl5'
ID 53318
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 # IGL01064
Quality Score
Status
Chromosome X
Chromosomal Location 9751861-9860782 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9771834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 66 (H66R)
Ref Sequence ENSEMBL: ENSMUSP00000083339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067529] [ENSMUST00000086165]
AlphaFold Q80T23
Predicted Effect probably benign
Transcript: ENSMUST00000067529
AA Change: H66R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064826
Gene: ENSMUSG00000054453
AA Change: H66R

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: H66R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083339
Gene: ENSMUSG00000054453
AA Change: H66R

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,433,855 (GRCm39) T4137S probably benign Het
Abcb1a T C 5: 8,782,388 (GRCm39) Y924H possibly damaging Het
Ash1l T G 3: 88,979,791 (GRCm39) C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpne6 T C 14: 55,750,187 (GRCm39) F106S probably damaging Het
Cysltr1 A T X: 105,622,342 (GRCm39) I48N probably damaging Het
Dsg1a A T 18: 20,473,263 (GRCm39) I779F probably damaging Het
Fpr-rs4 T A 17: 18,242,779 (GRCm39) L262H probably damaging Het
Gart G A 16: 91,419,895 (GRCm39) R871C probably damaging Het
Get4 C T 5: 139,238,277 (GRCm39) R20C probably damaging Het
Gm13030 G A 4: 138,600,869 (GRCm39) probably benign Het
Gm17654 A T 14: 43,816,455 (GRCm39) H49Q unknown Het
Gpnmb A G 6: 49,032,593 (GRCm39) I506V probably benign Het
Ist1 T C 8: 110,409,243 (GRCm39) I86V probably damaging Het
Kcnip1 C T 11: 33,583,192 (GRCm39) D198N probably damaging Het
Kif5c A G 2: 49,584,828 (GRCm39) I184V possibly damaging Het
Mink1 A T 11: 70,494,307 (GRCm39) M236L probably benign Het
Muc5ac A T 7: 141,361,210 (GRCm39) N1507I probably benign Het
Nrxn2 G T 19: 6,567,083 (GRCm39) E1326D probably damaging Het
Or10ak8 A T 4: 118,774,091 (GRCm39) M191K possibly damaging Het
Or51q1 A T 7: 103,628,999 (GRCm39) Y200F probably benign Het
Or5b3 T C 19: 13,388,590 (GRCm39) I219T probably benign Het
Patj T C 4: 98,385,210 (GRCm39) S326P possibly damaging Het
Pdha2 T C 3: 140,916,776 (GRCm39) H244R possibly damaging Het
Pgap4 C T 4: 49,586,860 (GRCm39) V103M possibly damaging Het
Pkhd1 C T 1: 20,604,754 (GRCm39) probably benign Het
Ptk7 A T 17: 46,884,492 (GRCm39) L746* probably null Het
Rad54b G A 4: 11,604,866 (GRCm39) G438D probably damaging Het
Rbm27 T C 18: 42,452,879 (GRCm39) V536A possibly damaging Het
Rundc3b T A 5: 8,619,553 (GRCm39) M135L probably damaging Het
Sorcs2 T C 5: 36,222,696 (GRCm39) Y353C probably damaging Het
Srcap T C 7: 127,159,064 (GRCm39) probably benign Het
Tlr7 T A X: 166,091,207 (GRCm39) E93V probably damaging Het
Tmem156 A G 5: 65,237,327 (GRCm39) L76S probably damaging Het
Tomm70a T C 16: 56,972,975 (GRCm39) F571S probably damaging Het
Trmt10b A G 4: 45,314,347 (GRCm39) Y261C possibly damaging Het
Other mutations in Sytl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-21