Incidental Mutation 'R0412:Syt7'
ID 36746
Institutional Source Beutler Lab
Gene Symbol Syt7
Ensembl Gene ENSMUSG00000024743
Gene Name synaptotagmin VII
Synonyms B230112P13Rik
MMRRC Submission 038614-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0412 (G1)
Quality Score 212
Status Validated
Chromosome 19
Chromosomal Location 10366454-10430544 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 10421444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 450 (E450*)
Ref Sequence ENSEMBL: ENSMUSP00000153132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073899] [ENSMUST00000076968] [ENSMUST00000169121] [ENSMUST00000223586] [ENSMUST00000224135]
AlphaFold Q9R0N7
Predicted Effect probably null
Transcript: ENSMUST00000073899
AA Change: E335*
SMART Domains Protein: ENSMUSP00000073560
Gene: ENSMUSG00000024743
AA Change: E335*

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 null
Transcript: ENSMUST00000076968
AA Change: E543*
SMART Domains Protein: ENSMUSP00000076234
Gene: ENSMUSG00000024743
AA Change: E543*

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 null
Transcript: ENSMUST00000169121
AA Change: E499*
SMART Domains Protein: ENSMUSP00000127973
Gene: ENSMUSG00000024743
AA Change: E499*

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 null
Transcript: ENSMUST00000223586
AA Change: E379*
Predicted Effect probably null
Transcript: ENSMUST00000224135
AA Change: E450*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225861
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.2%
Validation Efficiency 94% (67/71)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 C A 7: 101,039,429 (GRCm39) A563D probably damaging Het
Arhgap28 G A 17: 68,203,253 (GRCm39) L67F probably damaging Het
Atp7b G T 8: 22,485,675 (GRCm39) probably null Het
Auts2 A G 5: 131,475,669 (GRCm39) F485L probably benign Het
Ccdc68 A G 18: 70,093,510 (GRCm39) E239G probably damaging Het
Cdc42bpg T G 19: 6,363,487 (GRCm39) L449R probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Ddx41 G T 13: 55,678,421 (GRCm39) S630Y probably damaging Het
Dntt T C 19: 41,031,372 (GRCm39) L274P probably damaging Het
Fhl4 G T 10: 84,934,680 (GRCm39) H34N possibly damaging Het
Filip1 A T 9: 79,727,571 (GRCm39) N349K possibly damaging Het
Gm9894 C T 13: 67,913,145 (GRCm39) noncoding transcript Het
Gpr179 A G 11: 97,229,633 (GRCm39) S841P probably damaging Het
Gpr35 G T 1: 92,910,506 (GRCm39) V73L probably benign Het
Grik5 A G 7: 24,713,099 (GRCm39) V809A possibly damaging Het
H2-T13 T A 17: 36,392,413 (GRCm39) probably benign Het
Heatr5b T C 17: 79,128,283 (GRCm39) T451A probably benign Het
Hmcn2 G A 2: 31,278,259 (GRCm39) V1654M probably damaging Het
Htra3 G T 5: 35,828,409 (GRCm39) A157E probably damaging Het
Igf2r A T 17: 12,902,835 (GRCm39) V2405D probably damaging Het
Irs3 C A 5: 137,642,139 (GRCm39) R433L probably benign Het
Kcmf1 G A 6: 72,825,224 (GRCm39) Q239* probably null Het
Kcnk9 A G 15: 72,384,905 (GRCm39) probably benign Het
Kif28 A G 1: 179,530,091 (GRCm39) V622A probably benign Het
Klrb1f A T 6: 129,031,294 (GRCm39) I164F probably benign Het
Lama2 A G 10: 27,066,621 (GRCm39) S1087P possibly damaging Het
Mchr1 A T 15: 81,119,948 (GRCm39) probably benign Het
Mcidas A G 13: 113,135,677 (GRCm39) T367A probably damaging Het
Mphosph8 A C 14: 56,911,870 (GRCm39) K298Q probably damaging Het
Mroh2a G T 1: 88,162,938 (GRCm39) Q360H probably benign Het
Mst1 A C 9: 107,960,793 (GRCm39) D461A probably benign Het
Nckap1l A T 15: 103,373,079 (GRCm39) S311C probably benign Het
Or2y1 T A 11: 49,385,594 (GRCm39) V78E probably damaging Het
Or4c125 T A 2: 89,170,422 (GRCm39) M75L probably benign Het
Or5m9b C T 2: 85,905,435 (GRCm39) A117V probably benign Het
Or8c11 A C 9: 38,290,090 (GRCm39) K298N probably damaging Het
Pde3a T G 6: 141,444,410 (GRCm39) C1073G probably damaging Het
Pkhd1 T C 1: 20,188,012 (GRCm39) D3432G probably damaging Het
Ppargc1b G T 18: 61,448,932 (GRCm39) P130Q probably damaging Het
Ppp6r1 A G 7: 4,645,213 (GRCm39) I228T probably damaging Het
Pram1 A G 17: 33,860,480 (GRCm39) N349S probably benign Het
Ranbp6 C T 19: 29,789,483 (GRCm39) V290I possibly damaging Het
Rcan3 A T 4: 135,143,914 (GRCm39) probably null Het
Scn8a G C 15: 100,906,187 (GRCm39) probably benign Het
Slc12a5 C T 2: 164,835,982 (GRCm39) T900M probably benign Het
Srsf10 A G 4: 135,585,714 (GRCm39) Y55C probably damaging Het
Tbrg4 T C 11: 6,573,832 (GRCm39) K130R probably benign Het
Tgm7 C A 2: 120,931,546 (GRCm39) V206F probably damaging Het
Tmem131l T C 3: 83,938,955 (GRCm39) D67G probably damaging Het
Ttc7 A G 17: 87,637,472 (GRCm39) K409R probably benign Het
Unc80 A T 1: 66,590,096 (GRCm39) probably benign Het
Vmn1r171 C T 7: 23,332,080 (GRCm39) L102F possibly damaging Het
Vmn2r59 A C 7: 41,695,916 (GRCm39) probably benign Het
Vsig2 A G 9: 37,453,986 (GRCm39) R191G probably damaging Het
Wdr86 T A 5: 24,923,232 (GRCm39) Q153H probably benign Het
Wdr87-ps C G 7: 29,229,995 (GRCm39) noncoding transcript Het
Xxylt1 T A 16: 30,826,616 (GRCm39) N233I probably damaging Het
Zfp160 A T 17: 21,247,139 (GRCm39) E563V probably damaging Het
Zfp345 T A 2: 150,315,323 (GRCm39) E71D probably benign Het
Zfp541 A G 7: 15,816,099 (GRCm39) D862G possibly damaging Het
Zfp639 A C 3: 32,571,259 (GRCm39) Q47P possibly damaging Het
Other mutations in Syt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01956:Syt7 APN 19 10,420,755 (GRCm39) missense probably benign 0.03
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
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'- GGAAGACCTGTACCAGCATGAGAAC -3'
(R):5'- TAGGGCTAAACCAGTCGGGAACTC -3'

Sequencing Primer
(F):5'- AGGTTCTACCTTATGCTAATGATCC -3'
(R):5'- TCGGGAACTCAGAAAACCTTTG -3'
Posted On 2013-05-09