Incidental Mutation 'R0729:Sytl5'
ID 67429
Institutional Source Beutler Lab
Gene Symbol Sytl5
Ensembl Gene ENSMUSG00000054453
Gene Name synaptotagmin-like 5
Synonyms ENSMUSG00000054453
MMRRC Submission 038910-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R0729 (G1)
Quality Score 225
Status Validated
Chromosome X
Chromosomal Location 9751861-9860782 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9860736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 717 (E717G)
Ref Sequence ENSEMBL: ENSMUSP00000083339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067529] [ENSMUST00000086165]
AlphaFold Q80T23
Predicted Effect probably damaging
Transcript: ENSMUST00000067529
AA Change: E739G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064826
Gene: ENSMUSG00000054453
AA Change: E739G

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: E717G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083339
Gene: ENSMUSG00000054453
AA Change: E717G

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 0.8057 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 97% (74/76)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,050,281 (GRCm39) A828S probably benign Het
Acsm3 T C 7: 119,383,207 (GRCm39) probably benign Het
Adamts12 G A 15: 11,255,769 (GRCm39) R446H possibly damaging Het
Adgrb1 A G 15: 74,420,398 (GRCm39) N849S probably damaging Het
Ankra2 A G 13: 98,408,235 (GRCm39) D228G probably damaging Het
Bicd1 T C 6: 149,414,412 (GRCm39) V375A probably damaging Het
Blvrb A G 7: 27,147,555 (GRCm39) K5E possibly damaging Het
Cacna2d2 A G 9: 107,394,456 (GRCm39) N573D probably benign Het
Calhm2 C A 19: 47,121,356 (GRCm39) G271V possibly damaging Het
Capn13 C T 17: 73,629,064 (GRCm39) G581E probably damaging Het
Capzb T C 4: 139,016,288 (GRCm39) probably benign Het
Casd1 T C 6: 4,619,753 (GRCm39) probably benign Het
Clca4b A G 3: 144,634,111 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crx A G 7: 15,605,058 (GRCm39) probably benign Het
Cyp2c68 T C 19: 39,727,994 (GRCm39) probably benign Het
Dcaf8 T A 1: 172,000,221 (GRCm39) D126E probably benign Het
Ddx31 T C 2: 28,764,186 (GRCm39) I464T probably damaging Het
Dhx32 G A 7: 133,339,150 (GRCm39) T155I probably benign Het
Elac2 C A 11: 64,889,349 (GRCm39) P567T possibly damaging Het
Fat4 A G 3: 39,054,444 (GRCm39) probably benign Het
Fh1 T G 1: 175,442,383 (GRCm39) N156H probably damaging Het
Gm10064 T C 5: 122,835,584 (GRCm39) noncoding transcript Het
Gm14137 A G 2: 119,005,834 (GRCm39) E131G probably benign Het
Gpr22 T A 12: 31,759,312 (GRCm39) K233M probably damaging Het
Gpr63 A G 4: 25,007,480 (GRCm39) N68S probably benign Het
Gypa C T 8: 81,223,421 (GRCm39) P66S unknown Het
Htr2a A T 14: 74,879,587 (GRCm39) Q72L probably benign Het
Klhdc7b C T 15: 89,271,598 (GRCm39) R827* probably null Het
Leo1 G A 9: 75,364,420 (GRCm39) R520Q possibly damaging Het
Lrrc66 T C 5: 73,765,757 (GRCm39) M429V probably benign Het
Lrrc74a C T 12: 86,792,353 (GRCm39) Q225* probably null Het
Mamdc4 T A 2: 25,460,048 (GRCm39) N68Y probably damaging Het
Map3k10 G A 7: 27,360,992 (GRCm39) P507L probably damaging Het
Methig1 T A 15: 100,272,870 (GRCm39) C68S probably benign Het
Metrn C T 17: 26,015,202 (GRCm39) probably benign Het
Mmp12 C T 9: 7,358,290 (GRCm39) T392I possibly damaging Het
Mss51 A T 14: 20,533,160 (GRCm39) I437N probably damaging Het
Mtus2 A G 5: 148,014,097 (GRCm39) T297A probably benign Het
Myo10 T C 15: 25,722,243 (GRCm39) probably benign Het
Ncoa7 G A 10: 30,567,575 (GRCm39) P319S probably benign Het
Nlrp4d A T 7: 10,111,612 (GRCm39) probably benign Het
Obscn A G 11: 58,923,535 (GRCm39) S6455P probably damaging Het
Or5b97 T C 19: 12,878,259 (GRCm39) N295S probably damaging Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Pcdh12 A G 18: 38,415,517 (GRCm39) I536T probably benign Het
Pex5l G T 3: 33,008,685 (GRCm39) probably benign Het
Pla2g2e A C 4: 138,608,046 (GRCm39) K43Q possibly damaging Het
Rasa4 T C 5: 136,130,924 (GRCm39) probably benign Het
Rsf1 C T 7: 97,328,234 (GRCm39) R1079W probably damaging Het
Sez6 A G 11: 77,867,411 (GRCm39) T803A probably benign Het
Shcbp1 T A 8: 4,786,297 (GRCm39) N602Y probably benign Het
Slc16a13 G A 11: 70,109,857 (GRCm39) P215S probably damaging Het
Slc39a6 T C 18: 24,734,527 (GRCm39) Q54R probably benign Het
Smg1 C A 7: 117,745,512 (GRCm39) probably benign Het
Spg7 A G 8: 123,797,156 (GRCm39) N110D probably damaging Het
Sptbn1 A T 11: 30,060,902 (GRCm39) S2010T probably damaging Het
Sun1 T A 5: 139,223,619 (GRCm39) probably benign Het
Tle1 A T 4: 72,044,679 (GRCm39) probably benign Het
Tm9sf4 T A 2: 153,033,065 (GRCm39) V290E probably damaging Het
Tmem63b A G 17: 45,985,060 (GRCm39) S179P probably damaging Het
Trpm3 T A 19: 22,965,153 (GRCm39) F1549L probably benign Het
Ubr4 A T 4: 139,212,631 (GRCm39) Y5063F possibly damaging Het
Uroc1 T A 6: 90,313,937 (GRCm39) Y75N probably damaging Het
Vmn2r70 T C 7: 85,215,112 (GRCm39) T141A probably benign Het
Vps13c A G 9: 67,868,931 (GRCm39) K3128E probably damaging Het
Wdr26 T C 1: 181,013,470 (GRCm39) probably null Het
Wrn T A 8: 33,738,946 (GRCm39) probably null Het
Zfp106 C T 2: 120,385,729 (GRCm39) V13M probably damaging Het
Zfp456 G A 13: 67,514,663 (GRCm39) H348Y probably damaging Het
Zfpm1 G A 8: 123,063,398 (GRCm39) R819H 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
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
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
Predicted Primers PCR Primer
(F):5'- GAGGTCCACTCCCTTGTGTGAAATG -3'
(R):5'- TCCGAAGCTTGCCACTATAACAGC -3'

Sequencing Primer
(F):5'- CCCTTGTGTGAAATGTTGCC -3'
(R):5'- CCTACTGACTAATAAGGGAAGCCTG -3'
Posted On 2013-09-03