Incidental Mutation 'R7206:Syt7'
ID 560668
Institutional Source Beutler Lab
Gene Symbol Syt7
Ensembl Gene ENSMUSG00000024743
Gene Name synaptotagmin VII
Synonyms B230112P13Rik
MMRRC Submission 045284-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7206 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 10366454-10430544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10395337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 49 (Y49C)
Ref Sequence ENSEMBL: ENSMUSP00000076234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073899] [ENSMUST00000076968] [ENSMUST00000169121] [ENSMUST00000223586] [ENSMUST00000224135] [ENSMUST00000225452]
AlphaFold Q9R0N7
Predicted Effect probably benign
Transcript: ENSMUST00000073899
AA Change: Y49C

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000073560
Gene: ENSMUSG00000024743
AA Change: Y49C

DomainStartEndE-ValueType
transmembrane domain 18 40 N/A INTRINSIC
C2 151 254 3.29e-25 SMART
low complexity region 261 274 N/A INTRINSIC
C2 282 396 4.98e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000076968
AA Change: Y49C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000076234
Gene: ENSMUSG00000024743
AA Change: Y49C

DomainStartEndE-ValueType
transmembrane domain 18 40 N/A INTRINSIC
C2 195 298 3.29e-25 SMART
low complexity region 305 318 N/A INTRINSIC
C2 326 440 4.98e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169121
AA Change: Y49C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127973
Gene: ENSMUSG00000024743
AA Change: Y49C

DomainStartEndE-ValueType
transmembrane domain 17 39 N/A INTRINSIC
low complexity region 104 121 N/A INTRINSIC
C2 315 418 3.29e-25 SMART
low complexity region 425 438 N/A INTRINSIC
C2 446 560 4.98e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000223586
AA Change: Y49C

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000224135
AA Change: Y49C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000225452
AA Change: Y49C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.1106 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (87/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have no gross abnormalities or obvious neurological defects. They do develop fibrosis in the skin and skeletal muscle over time. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 G A 3: 59,932,662 (GRCm39) M392I probably benign Het
Aadacl4fm2 T A 4: 144,285,211 (GRCm39) D142V probably damaging Het
Acr T C 15: 89,458,374 (GRCm39) S352P probably benign Het
Adam6a T C 12: 113,509,654 (GRCm39) C676R probably damaging Het
Adgra3 T C 5: 50,164,238 (GRCm39) D247G probably damaging Het
Agxt2 A T 15: 10,377,542 (GRCm39) E147D probably damaging Het
Atp2a1 T C 7: 126,047,144 (GRCm39) T805A probably benign Het
Atp8b4 T C 2: 126,300,212 (GRCm39) S106G probably damaging Het
Ccdc170 T A 10: 4,464,120 (GRCm39) M87K possibly damaging Het
Ccnl2 T G 4: 155,905,431 (GRCm39) V287G possibly damaging Het
Ccr6 A T 17: 8,475,781 (GRCm39) M329L probably benign Het
Cflar G T 1: 58,780,150 (GRCm39) M248I Het
Cib4 A T 5: 30,703,110 (GRCm39) L5* probably null Het
Col27a1 A T 4: 63,153,583 (GRCm39) Y645F probably benign Het
Cxcr2 A G 1: 74,198,213 (GRCm39) T236A possibly damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah7a A T 1: 53,737,792 (GRCm39) L47* probably null Het
Dnajb6 A C 5: 29,986,335 (GRCm39) K301T possibly damaging Het
Dpf2 T A 19: 5,954,571 (GRCm39) I157F possibly damaging Het
Drd4 G A 7: 140,872,032 (GRCm39) G28R probably damaging Het
Dus3l A T 17: 57,074,807 (GRCm39) I310F probably damaging Het
Dusp29 A G 14: 21,727,102 (GRCm39) V182A probably damaging Het
Eef1akmt3 A G 10: 126,876,862 (GRCm39) L95P probably damaging Het
Fabp7 C T 10: 57,661,087 (GRCm39) probably benign Het
Fam135a T C 1: 24,069,354 (GRCm39) N505S probably benign Het
Fam216b C A 14: 78,322,567 (GRCm39) D46Y probably damaging Het
Gata6 C T 18: 11,054,850 (GRCm39) R260C probably damaging Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Golgb1 A G 16: 36,734,111 (GRCm39) I1160M probably benign Het
Hjv A T 3: 96,435,444 (GRCm39) D234V probably damaging Het
Kiss1 A G 1: 133,255,063 (GRCm39) K26E probably benign Het
Knl1 T A 2: 118,899,780 (GRCm39) F494I probably benign Het
Ktn1 T C 14: 47,932,985 (GRCm39) L713S probably damaging Het
Loxhd1 A G 18: 77,529,513 (GRCm39) D2052G probably damaging Het
Lpo A C 11: 87,698,249 (GRCm39) L582R probably damaging Het
Map2k3 A G 11: 60,834,406 (GRCm39) T125A Het
Matn3 T A 12: 9,011,170 (GRCm39) N360K probably benign Het
Mlip A T 9: 77,072,144 (GRCm39) V237E probably damaging Het
Mms22l T C 4: 24,591,146 (GRCm39) V999A probably benign Het
Mn1 A G 5: 111,568,378 (GRCm39) K783E possibly damaging Het
Myo1h A T 5: 114,457,836 (GRCm39) K132* probably null Het
Nle1 A G 11: 82,795,757 (GRCm39) V230A probably benign Het
Or1ak2 T A 2: 36,827,784 (GRCm39) Y218N probably damaging Het
Or1e1b-ps1 A T 11: 73,845,647 (GRCm39) I44F probably benign Het
Or4a68 T C 2: 89,270,801 (GRCm39) probably benign Het
Or4f62 T G 2: 111,986,804 (GRCm39) C169W probably damaging Het
Or51f23 T C 7: 102,452,891 (GRCm39) S69P probably damaging Het
Or7e169 C T 9: 19,757,856 (GRCm39) D20N probably damaging Het
Ormdl2 T A 10: 128,656,284 (GRCm39) H7L possibly damaging Het
Pam A G 1: 97,823,757 (GRCm39) S225P probably damaging Het
Pan2 C A 10: 128,150,414 (GRCm39) Y719* probably null Het
Ppfia4 T C 1: 134,255,127 (GRCm39) S243G probably benign Het
Ppig T G 2: 69,571,910 (GRCm39) S210A unknown Het
Ppwd1 A T 13: 104,350,106 (GRCm39) N426K probably damaging Het
Prxl2a T A 14: 40,726,142 (GRCm39) M12L probably benign Het
Rnf10 T G 5: 115,382,180 (GRCm39) D675A probably benign Het
Rrp12 A T 19: 41,866,478 (GRCm39) L619H probably damaging Het
Rsph10b C T 5: 143,898,010 (GRCm39) T497I possibly damaging Het
Scnm1 A T 3: 95,041,205 (GRCm39) M1K probably null Het
Scp2 G T 4: 107,931,638 (GRCm39) D332E probably benign Het
Senp3 T C 11: 69,569,557 (GRCm39) I314V probably benign Het
Sfmbt1 T A 14: 30,533,330 (GRCm39) probably null Het
Slc44a2 T C 9: 21,258,103 (GRCm39) F451S probably damaging Het
Slfn1 A T 11: 83,012,837 (GRCm39) M318L probably benign Het
Syne2 C T 12: 76,051,531 (GRCm39) S4087L probably benign Het
Tas2r134 T C 2: 51,518,120 (GRCm39) Y200H probably benign Het
Tgfbr1 A T 4: 47,402,941 (GRCm39) H315L probably damaging Het
Tmem184c A G 8: 78,323,206 (GRCm39) V552A possibly damaging Het
Tnxb A G 17: 34,923,075 (GRCm39) R2553G possibly damaging Het
Tomm40 C G 7: 19,444,861 (GRCm39) R173S probably benign Het
Tonsl T C 15: 76,517,851 (GRCm39) D650G probably damaging Het
Tpo G C 12: 30,153,133 (GRCm39) S407W possibly damaging Het
Trank1 T C 9: 111,174,583 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,378 (GRCm39) E99G probably damaging Het
Tubb2a C A 13: 34,259,505 (GRCm39) S95I possibly damaging Het
Vav2 C A 2: 27,226,731 (GRCm39) R114L probably benign Het
Vmn1r172 A T 7: 23,359,582 (GRCm39) I156L possibly damaging Het
Vmn1r238 A G 18: 3,122,623 (GRCm39) Y264H possibly damaging Het
Vmn2r26 T A 6: 124,016,727 (GRCm39) M397K probably benign Het
Vmn2r73 T C 7: 85,522,075 (GRCm39) N88S probably benign Het
Vps13a T C 19: 16,731,662 (GRCm39) N150S probably damaging Het
Vps35 A T 8: 86,014,350 (GRCm39) Y100N probably damaging Het
Vps8 A C 16: 21,276,171 (GRCm39) I235L probably damaging Het
Yipf2 T A 9: 21,501,657 (GRCm39) H157L probably damaging Het
Zfp354a A T 11: 50,961,073 (GRCm39) H426L probably damaging Het
Zfp503 G T 14: 22,035,553 (GRCm39) S454R possibly damaging Het
Zfp619 C T 7: 39,184,824 (GRCm39) R285C probably benign Het
Other mutations in Syt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01956:Syt7 APN 19 10,420,755 (GRCm39) missense probably benign 0.03
R0412:Syt7 UTSW 19 10,421,444 (GRCm39) nonsense probably null
R1068:Syt7 UTSW 19 10,421,375 (GRCm39) missense probably benign 0.01
R1793:Syt7 UTSW 19 10,421,354 (GRCm39) missense probably damaging 1.00
R1955:Syt7 UTSW 19 10,395,402 (GRCm39) missense probably damaging 1.00
R2049:Syt7 UTSW 19 10,416,577 (GRCm39) missense probably benign 0.28
R2170:Syt7 UTSW 19 10,416,744 (GRCm39) missense probably damaging 1.00
R2911:Syt7 UTSW 19 10,420,799 (GRCm39) missense probably benign 0.00
R3694:Syt7 UTSW 19 10,413,000 (GRCm39) missense possibly damaging 0.69
R4330:Syt7 UTSW 19 10,399,162 (GRCm39) missense probably damaging 1.00
R4573:Syt7 UTSW 19 10,416,576 (GRCm39) nonsense probably null
R4691:Syt7 UTSW 19 10,403,845 (GRCm39) missense probably damaging 0.98
R4732:Syt7 UTSW 19 10,420,288 (GRCm39) missense probably damaging 1.00
R4733:Syt7 UTSW 19 10,420,288 (GRCm39) missense probably damaging 1.00
R4811:Syt7 UTSW 19 10,412,931 (GRCm39) missense probably damaging 0.98
R5067:Syt7 UTSW 19 10,420,222 (GRCm39) missense possibly damaging 0.58
R5069:Syt7 UTSW 19 10,416,601 (GRCm39) missense probably benign 0.00
R5071:Syt7 UTSW 19 10,420,792 (GRCm39) missense possibly damaging 0.92
R5372:Syt7 UTSW 19 10,403,985 (GRCm39) missense probably damaging 1.00
R5830:Syt7 UTSW 19 10,399,151 (GRCm39) missense probably damaging 1.00
R5979:Syt7 UTSW 19 10,420,843 (GRCm39) missense probably damaging 1.00
R6737:Syt7 UTSW 19 10,421,408 (GRCm39) missense probably damaging 1.00
R6833:Syt7 UTSW 19 10,421,508 (GRCm39) missense probably damaging 1.00
R6843:Syt7 UTSW 19 10,399,135 (GRCm39) missense probably damaging 1.00
R7010:Syt7 UTSW 19 10,395,354 (GRCm39) missense probably benign 0.16
R7078:Syt7 UTSW 19 10,412,963 (GRCm39) missense probably benign 0.14
R9116:Syt7 UTSW 19 10,421,373 (GRCm39) missense probably damaging 1.00
R9451:Syt7 UTSW 19 10,421,532 (GRCm39) missense probably damaging 1.00
R9582:Syt7 UTSW 19 10,416,780 (GRCm39) missense probably damaging 1.00
R9610:Syt7 UTSW 19 10,421,459 (GRCm39) missense probably benign 0.06
Z1176:Syt7 UTSW 19 10,420,774 (GRCm39) missense probably damaging 1.00
Z1177:Syt7 UTSW 19 10,403,857 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CCAGGCATGAGATAGATACCCC -3'
(R):5'- TTCTGAGACCAAGGGTGTGG -3'

Sequencing Primer
(F):5'- GGCATGAGATAGATACCCCACAATG -3'
(R):5'- CCATGGCCTCAGGGAATAAG -3'
Posted On 2019-06-26