Incidental Mutation 'R2911:Syt7'
ID 261278
Institutional Source Beutler Lab
Gene Symbol Syt7
Ensembl Gene ENSMUSG00000024743
Gene Name synaptotagmin VII
Synonyms B230112P13Rik
MMRRC Submission 040498-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2911 (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 10420799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 448 (I448T)
Ref Sequence ENSEMBL: ENSMUSP00000127973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073899] [ENSMUST00000076968] [ENSMUST00000169121] [ENSMUST00000223586] [ENSMUST00000224135]
AlphaFold Q9R0N7
Predicted Effect probably benign
Transcript: ENSMUST00000073899
AA Change: I284T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073560
Gene: ENSMUSG00000024743
AA Change: I284T

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: I492T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076234
Gene: ENSMUSG00000024743
AA Change: I492T

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
AA Change: I448T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000127973
Gene: ENSMUSG00000024743
AA Change: I448T

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: I328T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224135
AA Change: I399T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225861
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,378,982 (GRCm39) T645A probably damaging Het
Adam10 C T 9: 70,626,005 (GRCm39) S91L probably damaging Het
Ahnak A G 19: 8,989,018 (GRCm39) D3434G probably damaging Het
Ankrd11 A T 8: 123,635,537 (GRCm39) D32E probably damaging Het
Cacna1b A T 2: 24,497,553 (GRCm39) probably null Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cep104 T A 4: 154,079,884 (GRCm39) probably null Het
Clstn2 A G 9: 97,414,775 (GRCm39) V373A probably damaging Het
Cyp2c65 T G 19: 39,076,126 (GRCm39) I359M probably damaging Het
Cyp4a12b A T 4: 115,290,723 (GRCm39) K282* probably null Het
Ddx1 C T 12: 13,281,441 (GRCm39) probably null Het
Dnah7a A T 1: 53,466,983 (GRCm39) probably null Het
Dzip1l T C 9: 99,537,655 (GRCm39) V419A probably benign Het
Epha3 A C 16: 63,472,775 (GRCm39) V370G probably benign Het
Fbxo38 T C 18: 62,652,878 (GRCm39) D523G probably benign Het
Fryl T C 5: 73,207,799 (GRCm39) D2457G probably damaging Het
Gm379 A C X: 107,708,371 (GRCm39) F43V possibly damaging Het
Grhl3 T C 4: 135,286,457 (GRCm39) I75V probably benign Het
Lcp2 G A 11: 34,018,970 (GRCm39) probably null Het
Lipo3 T A 19: 33,556,767 (GRCm39) I220F probably benign Het
Lrp1b T C 2: 41,396,704 (GRCm39) E340G probably benign Het
Lypd8l G A 11: 58,499,252 (GRCm39) Q189* probably null Het
Mbtps1 A G 8: 120,272,776 (GRCm39) I123T possibly damaging Het
Ndc80 A T 17: 71,807,371 (GRCm39) S528R probably benign Het
Odf2l A C 3: 144,830,084 (GRCm39) I19L probably benign Het
Or10d3 T C 9: 39,462,117 (GRCm39) I17V possibly damaging Het
Or5h25 C T 16: 58,930,544 (GRCm39) R143H probably benign Het
Or7e177 A G 9: 20,211,775 (GRCm39) K94R possibly damaging Het
Pigr A G 1: 130,777,270 (GRCm39) D692G probably damaging Het
Reep2 T C 18: 34,978,743 (GRCm39) probably null Het
Rin3 T G 12: 102,339,843 (GRCm39) S598A probably benign Het
Rreb1 A T 13: 38,132,896 (GRCm39) E1690D probably benign Het
Rubcnl C T 14: 75,278,248 (GRCm39) T344I probably benign Het
Shcbp1l C A 1: 153,304,372 (GRCm39) L144I probably damaging Het
Snx2 C T 18: 53,332,946 (GRCm39) P207S probably damaging Het
Sox17 A T 1: 4,563,354 (GRCm39) D92E probably damaging Het
Spata21 A G 4: 140,830,393 (GRCm39) M288V possibly damaging Het
Sra1 T C 18: 36,809,238 (GRCm39) D273G possibly damaging Het
Tac1 A G 6: 7,559,097 (GRCm39) probably null Het
Tgs1 C A 4: 3,585,616 (GRCm39) N164K probably benign Het
Tmem72 T A 6: 116,675,292 (GRCm39) I67F possibly damaging Het
Ythdc1 T C 5: 86,964,418 (GRCm39) S88P possibly 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
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
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'- CCTAGGTCAGGGCATAAAAGAC -3'
(R):5'- CTCTAGTCAGAGGACCAACAGG -3'

Sequencing Primer
(F):5'- TGTGGACAACTAGGCTCTCTGAC -3'
(R):5'- GCAGGGGTTAGGGTTAGGACC -3'
Posted On 2015-01-23