Incidental Mutation 'R4330:Syt7'
ID 324579
Institutional Source Beutler Lab
Gene Symbol Syt7
Ensembl Gene ENSMUSG00000024743
Gene Name synaptotagmin VII
Synonyms B230112P13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4330 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 10366454-10430544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10399162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 86 (V86A)
Ref Sequence ENSEMBL: ENSMUSP00000153110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073899] [ENSMUST00000076968] [ENSMUST00000169121] [ENSMUST00000223586] [ENSMUST00000224135] [ENSMUST00000225452]
AlphaFold Q9R0N7
Predicted Effect probably benign
Transcript: ENSMUST00000073899
SMART Domains Protein: ENSMUSP00000073560
Gene: ENSMUSG00000024743

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 benign
Transcript: ENSMUST00000076968
AA Change: V86A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076234
Gene: ENSMUSG00000024743
AA Change: V86A

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 benign
Transcript: ENSMUST00000169121
SMART Domains Protein: ENSMUSP00000127973
Gene: ENSMUSG00000024743

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 probably benign
Transcript: ENSMUST00000223586
AA Change: V86A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225019
Predicted Effect probably damaging
Transcript: ENSMUST00000225452
AA Change: V86A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225861
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,079,287 (GRCm39) K312N probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Cdh10 G A 15: 19,000,045 (GRCm39) V497I probably damaging Het
Chd4 T C 6: 125,078,565 (GRCm39) V229A probably benign Het
Cnr2 T A 4: 135,644,237 (GRCm39) I105N possibly damaging Het
Dnai1 A G 4: 41,637,966 (GRCm39) T701A probably damaging Het
Eri1 G A 8: 35,936,383 (GRCm39) R313* probably null Het
Hrh3 T C 2: 179,741,665 (GRCm39) probably benign Het
Hs3st5 T A 10: 36,708,726 (GRCm39) V87D probably benign Het
Jmy G C 13: 93,635,390 (GRCm39) P142R probably damaging Het
Jmy C A 13: 93,635,781 (GRCm39) D12Y probably damaging Het
Mfsd4a A C 1: 131,981,291 (GRCm39) M320R possibly damaging Het
Myocd A T 11: 65,114,590 (GRCm39) H49Q probably benign Het
Nlk A G 11: 78,481,774 (GRCm39) I229T possibly damaging Het
Rabl2 T C 15: 89,471,137 (GRCm39) D66G probably benign Het
Ramp1 C T 1: 91,151,067 (GRCm39) T144I possibly damaging Het
Rhbdf2 T C 11: 116,492,782 (GRCm39) K413R probably benign Het
Scpep1 G A 11: 88,826,729 (GRCm39) Q236* probably null Het
Stil A G 4: 114,862,176 (GRCm39) R40G probably damaging Het
Ubr2 A T 17: 47,278,204 (GRCm39) L711Q probably null Het
Vmn1r78 T A 7: 11,886,386 (GRCm39) probably null Het
Zfp280d C T 9: 72,203,261 (GRCm39) T3I possibly damaging Het
Zscan25 T A 5: 145,227,361 (GRCm39) F342I probably damaging 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
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
R7206:Syt7 UTSW 19 10,395,337 (GRCm39) missense probably damaging 1.00
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'- GCGTGTGCCTACATAGATATGTG -3'
(R):5'- TGCCCATGGGATGAATGGAG -3'

Sequencing Primer
(F):5'- GTGCCTACATAGATATGTGAATTGC -3'
(R):5'- CATGGGATGAATGGAGGGGAAAG -3'
Posted On 2015-06-24