Incidental Mutation 'R3777:Syt17'
ID 271839
Institutional Source Beutler Lab
Gene Symbol Syt17
Ensembl Gene ENSMUSG00000058420
Gene Name synaptotagmin XVII
Synonyms Bk
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3777 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 117979940-118047445 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118033180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 215 (L215P)
Ref Sequence ENSEMBL: ENSMUSP00000145087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081574] [ENSMUST00000203465] [ENSMUST00000203485] [ENSMUST00000203796] [ENSMUST00000207034]
AlphaFold Q920M7
Predicted Effect probably damaging
Transcript: ENSMUST00000081574
AA Change: L272P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080284
Gene: ENSMUSG00000058420
AA Change: L272P

DomainStartEndE-ValueType
low complexity region 90 102 N/A INTRINSIC
low complexity region 103 118 N/A INTRINSIC
low complexity region 159 172 N/A INTRINSIC
C2 196 305 7.92e-19 SMART
low complexity region 315 328 N/A INTRINSIC
C2 333 448 2.8e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203465
AA Change: L271P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000203485
AA Change: L276P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144987
Gene: ENSMUSG00000058420
AA Change: L276P

DomainStartEndE-ValueType
low complexity region 94 106 N/A INTRINSIC
low complexity region 107 122 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
C2 200 309 5.2e-21 SMART
low complexity region 319 332 N/A INTRINSIC
C2 337 419 3.1e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203796
AA Change: L215P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145087
Gene: ENSMUSG00000058420
AA Change: L215P

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
low complexity region 46 61 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
C2 139 248 5.2e-21 SMART
low complexity region 258 271 N/A INTRINSIC
C2 276 391 1.9e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207034
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dsg1b G A 18: 20,532,644 (GRCm39) V563I probably damaging Het
Elovl4 ACT A 9: 83,667,201 (GRCm39) probably null Het
Erp27 A T 6: 136,896,901 (GRCm39) N100K possibly damaging Het
Fam171b T A 2: 83,708,605 (GRCm39) I369K probably benign Het
Fmn1 A G 2: 113,195,467 (GRCm39) E389G unknown Het
Gm14569 T A X: 35,696,085 (GRCm39) M875L probably benign Het
Gm5819 A G 18: 8,694,429 (GRCm39) E118G probably damaging Het
Grip1 G A 10: 119,821,535 (GRCm39) probably null Het
Heatr1 C A 13: 12,428,229 (GRCm39) L789I possibly damaging Het
Hsd17b1 T C 11: 100,969,529 (GRCm39) S59P probably damaging Het
Ighv1-72 A T 12: 115,721,636 (GRCm39) S107T probably damaging Het
Inpp4b T A 8: 82,768,621 (GRCm39) V710D possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Larp4 T A 15: 99,888,238 (GRCm39) W92R probably damaging Het
Man2b2 T C 5: 36,972,871 (GRCm39) N548D probably benign Het
Mfsd4b2 A G 10: 39,797,527 (GRCm39) I276T possibly damaging Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Myl12a G T 17: 71,301,631 (GRCm39) H165Q possibly damaging Het
Myo18b T A 5: 112,905,462 (GRCm39) E2045D probably damaging Het
Mypn T C 10: 62,983,761 (GRCm39) T496A possibly damaging Het
Ncoa7 A G 10: 30,565,752 (GRCm39) Y632H probably damaging Het
Or13c3 A T 4: 52,855,636 (GRCm39) N292K probably damaging Het
Or2d4 A T 7: 106,543,519 (GRCm39) S230T probably benign Het
Or4b13 T C 2: 90,082,969 (GRCm39) Y121C probably damaging Het
Or5p52 C A 7: 107,501,954 (GRCm39) A10E probably benign Het
Or8g33 A T 9: 39,337,901 (GRCm39) S155R possibly damaging Het
Pik3c2g A T 6: 139,599,385 (GRCm39) Y167F probably damaging Het
Pik3cg A C 12: 32,244,708 (GRCm39) C915W probably damaging Het
Ppfibp2 A G 7: 107,328,396 (GRCm39) T476A probably benign Het
Rapgef1 C T 2: 29,609,701 (GRCm39) H675Y possibly damaging Het
Rpn2 T A 2: 157,141,477 (GRCm39) V263D probably damaging Het
Rps13 A G 7: 115,933,160 (GRCm39) L16P probably damaging Het
Rsph14 C G 10: 74,793,419 (GRCm39) Q360H possibly damaging Het
Rsph14 T G 10: 74,793,420 (GRCm39) Q360P possibly damaging Het
Semp2l2b T C 10: 21,942,861 (GRCm39) E373G probably damaging Het
Smarcc2 G A 10: 128,318,812 (GRCm39) probably null Het
Sp8 G T 12: 118,812,750 (GRCm39) V202L possibly damaging Het
Spag9 G A 11: 93,989,852 (GRCm39) probably null Het
Svil A G 18: 5,090,855 (GRCm39) N915S probably damaging Het
Tle6 G T 10: 81,431,987 (GRCm39) P86T probably benign Het
Tph2 T C 10: 114,915,910 (GRCm39) D421G probably benign Het
Trpm2 A C 10: 77,771,824 (GRCm39) L605R probably benign Het
Vat1l T C 8: 114,963,540 (GRCm39) probably null Het
Vdac3 T C 8: 23,070,525 (GRCm39) N128D probably benign Het
Vegfb G A 19: 6,964,767 (GRCm39) probably benign Het
Zfp808 T A 13: 62,319,717 (GRCm39) N315K probably damaging Het
Other mutations in Syt17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Syt17 APN 7 118,033,513 (GRCm39) missense probably damaging 0.98
IGL01135:Syt17 APN 7 117,981,270 (GRCm39) missense possibly damaging 0.92
IGL01331:Syt17 APN 7 118,007,389 (GRCm39) missense probably damaging 0.99
IGL01610:Syt17 APN 7 118,033,216 (GRCm39) missense possibly damaging 0.90
IGL01776:Syt17 APN 7 118,009,176 (GRCm39) missense probably damaging 0.99
IGL02125:Syt17 APN 7 118,009,197 (GRCm39) missense probably benign 0.01
IGL02819:Syt17 APN 7 118,009,143 (GRCm39) splice site probably benign
H8562:Syt17 UTSW 7 118,007,292 (GRCm39) missense probably benign 0.01
R0127:Syt17 UTSW 7 118,009,164 (GRCm39) missense probably damaging 0.98
R0328:Syt17 UTSW 7 117,981,216 (GRCm39) missense probably benign 0.28
R1789:Syt17 UTSW 7 118,036,061 (GRCm39) missense probably benign 0.00
R1872:Syt17 UTSW 7 118,007,341 (GRCm39) missense probably benign 0.00
R1878:Syt17 UTSW 7 118,033,468 (GRCm39) missense probably benign 0.01
R1918:Syt17 UTSW 7 118,033,208 (GRCm39) missense possibly damaging 0.54
R2133:Syt17 UTSW 7 117,981,270 (GRCm39) missense possibly damaging 0.92
R4471:Syt17 UTSW 7 118,036,040 (GRCm39) splice site probably null
R4472:Syt17 UTSW 7 118,036,040 (GRCm39) splice site probably null
R4567:Syt17 UTSW 7 118,033,495 (GRCm39) missense probably benign 0.06
R5211:Syt17 UTSW 7 118,041,626 (GRCm39) missense probably benign 0.19
R5905:Syt17 UTSW 7 118,036,141 (GRCm39) missense probably benign 0.10
R6054:Syt17 UTSW 7 118,007,356 (GRCm39) missense possibly damaging 0.91
R6276:Syt17 UTSW 7 118,033,513 (GRCm39) missense probably damaging 0.98
R6332:Syt17 UTSW 7 118,033,466 (GRCm39) missense probably benign 0.00
R7022:Syt17 UTSW 7 118,007,242 (GRCm39) missense probably benign 0.00
R7440:Syt17 UTSW 7 117,981,107 (GRCm39) missense probably damaging 1.00
R7610:Syt17 UTSW 7 118,033,682 (GRCm39) splice site probably null
R7845:Syt17 UTSW 7 118,009,194 (GRCm39) missense possibly damaging 0.79
R8294:Syt17 UTSW 7 118,009,228 (GRCm39) missense probably damaging 0.99
R8296:Syt17 UTSW 7 118,036,069 (GRCm39) missense probably damaging 0.97
R8429:Syt17 UTSW 7 118,033,564 (GRCm39) missense probably benign
R8949:Syt17 UTSW 7 118,033,054 (GRCm39) critical splice donor site probably null
R9278:Syt17 UTSW 7 118,033,480 (GRCm39) missense probably damaging 1.00
R9622:Syt17 UTSW 7 118,036,191 (GRCm39) missense probably benign
R9629:Syt17 UTSW 7 118,007,379 (GRCm39) missense probably damaging 0.96
Z1177:Syt17 UTSW 7 118,033,446 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- GACTTTTGGGATAGCATTGGAAATG -3'
(R):5'- TCAGCACACAGTATGACCTGC -3'

Sequencing Primer
(F):5'- TTGGGATAGCATTGGAAATGTAAATG -3'
(R):5'- AATCTCCCATGATGGCTCGCG -3'
Posted On 2015-03-25