Incidental Mutation 'IGL02738:Syt3'
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ID305740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt3
Ensembl Gene ENSMUSG00000030731
Gene Namesynaptotagmin III
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL02738
Quality Score
Status
Chromosome7
Chromosomal Location44384102-44400187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 44386023 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 18 (S18L)
Ref Sequence ENSEMBL: ENSMUSP00000118158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118831] [ENSMUST00000118962] [ENSMUST00000120262] [ENSMUST00000130707] [ENSMUST00000130844]
Predicted Effect possibly damaging
Transcript: ENSMUST00000118831
AA Change: S18L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112432
Gene: ENSMUSG00000030731
AA Change: S18L

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
low complexity region 101 142 N/A INTRINSIC
low complexity region 145 161 N/A INTRINSIC
low complexity region 171 181 N/A INTRINSIC
low complexity region 187 212 N/A INTRINSIC
low complexity region 229 244 N/A INTRINSIC
low complexity region 252 260 N/A INTRINSIC
low complexity region 279 298 N/A INTRINSIC
C2 312 415 1.89e-25 SMART
C2 444 559 3.42e-23 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118962
AA Change: S18L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114070
Gene: ENSMUSG00000030731
AA Change: S18L

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
low complexity region 101 142 N/A INTRINSIC
low complexity region 145 161 N/A INTRINSIC
low complexity region 171 181 N/A INTRINSIC
low complexity region 187 212 N/A INTRINSIC
low complexity region 229 244 N/A INTRINSIC
low complexity region 252 260 N/A INTRINSIC
low complexity region 279 298 N/A INTRINSIC
C2 312 415 1.89e-25 SMART
C2 444 559 3.42e-23 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120262
AA Change: S18L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112968
Gene: ENSMUSG00000030731
AA Change: S18L

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
low complexity region 101 142 N/A INTRINSIC
low complexity region 145 161 N/A INTRINSIC
low complexity region 171 181 N/A INTRINSIC
low complexity region 187 212 N/A INTRINSIC
low complexity region 229 244 N/A INTRINSIC
low complexity region 252 260 N/A INTRINSIC
low complexity region 279 298 N/A INTRINSIC
C2 312 415 1.89e-25 SMART
C2 444 559 3.42e-23 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000130707
AA Change: S18L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000130844
AA Change: S18L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206723
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 A T 2: 150,624,872 probably benign Het
Akr1c21 A T 13: 4,580,301 N198Y probably damaging Het
Anapc11 A T 11: 120,599,276 K6I probably benign Het
Angel1 G A 12: 86,705,286 L554F probably benign Het
Arhgap11a A T 2: 113,832,975 *988K probably null Het
Arnt T A 3: 95,495,320 probably null Het
Atp1a3 T A 7: 24,990,476 D519V possibly damaging Het
Bdp1 C A 13: 100,051,353 A1575S probably benign Het
Bglap G A 3: 88,384,408 T3I unknown Het
Brca2 C T 5: 150,567,035 P3054L probably damaging Het
Btn2a2 C A 13: 23,478,806 E316* probably null Het
C1qtnf9 C T 14: 60,779,939 T306I probably benign Het
Caprin2 T C 6: 148,842,862 T1022A probably damaging Het
Cd109 T C 9: 78,691,299 Y940H probably damaging Het
Cd300ld A G 11: 114,984,250 L186S probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd6 A T 2: 160,965,698 S1865R probably benign Het
Chrna2 T C 14: 66,149,440 V345A probably benign Het
Dnah1 T G 14: 31,292,640 E1756A probably benign Het
Dnah3 C T 7: 119,965,497 A2637T probably benign Het
Ern2 A G 7: 122,182,899 F80S probably damaging Het
Ero1lb A G 13: 12,604,433 I439V possibly damaging Het
Eva1a T G 6: 82,071,230 S30A probably benign Het
Fam71d T A 12: 78,734,215 probably benign Het
Fer1l4 A G 2: 156,045,728 L516P probably benign Het
Hexim2 T C 11: 103,138,277 S52P probably damaging Het
Hoxb9 A T 11: 96,274,728 M208L possibly damaging Het
Lbr A G 1: 181,832,213 V139A probably benign Het
Lcn10 G A 2: 25,684,020 probably benign Het
Letm2 A G 8: 25,586,773 I271T probably damaging Het
Lrrc34 T C 3: 30,631,292 S303G possibly damaging Het
Matn2 C A 15: 34,388,739 A325D probably benign Het
Mboat4 T C 8: 34,115,104 L4P probably damaging Het
Mmp1a T A 9: 7,464,301 probably benign Het
Naip2 T A 13: 100,189,177 R74S probably benign Het
Neb G T 2: 52,243,850 Q3374K probably damaging Het
Nup210l A G 3: 90,136,850 E486G possibly damaging Het
Olfr1024 A G 2: 85,904,949 V35A probably benign Het
Olfr1301 A C 2: 111,754,354 Y35S probably damaging Het
Olfr142 A G 2: 90,252,355 I211T possibly damaging Het
Olfr816 A T 10: 129,911,331 probably benign Het
Pde8a A C 7: 81,326,342 N677H probably damaging Het
Plag1 G A 4: 3,903,812 Q460* probably null Het
Podnl1 A G 8: 84,132,195 T550A probably benign Het
Ptpn22 A G 3: 103,874,066 probably benign Het
Pycrl A T 15: 75,918,716 I98N probably damaging Het
Rtn4r A G 16: 18,151,188 Y160C probably damaging Het
Slc27a4 A G 2: 29,811,226 N343S probably benign Het
Slc2a4 A G 11: 69,946,114 Y43H probably damaging Het
Sorbs1 A T 19: 40,376,904 L145Q probably damaging Het
Speer2 A T 16: 69,861,712 S22T probably benign Het
Sugp2 G T 8: 70,243,799 G474V probably damaging Het
Tacc1 T C 8: 25,201,143 E48G probably damaging Het
Tdrd6 A G 17: 43,620,446 V2083A probably benign Het
Thra A T 11: 98,764,359 H355L probably benign Het
Tmem35b C T 4: 127,126,188 Q34* probably null Het
Unk G T 11: 116,056,191 G537V probably damaging Het
Usp32 T A 11: 85,083,806 D92V probably damaging Het
Vmn1r209 G T 13: 22,806,120 Y133* probably null Het
Vmn1r42 A G 6: 89,844,648 V313A possibly damaging Het
Vnn1 A G 10: 23,904,622 I503V probably benign Het
Vwa2 G A 19: 56,897,929 G143R possibly damaging Het
Other mutations in Syt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Syt3 APN 7 44390999 missense possibly damaging 0.95
IGL02751:Syt3 APN 7 44386062 missense possibly damaging 0.60
R0129:Syt3 UTSW 7 44393358 missense probably damaging 1.00
R0749:Syt3 UTSW 7 44399147 missense probably benign 0.41
R1022:Syt3 UTSW 7 44390682 missense probably damaging 0.99
R1024:Syt3 UTSW 7 44390682 missense probably damaging 0.99
R1204:Syt3 UTSW 7 44392667 missense probably damaging 1.00
R1462:Syt3 UTSW 7 44396010 missense probably damaging 1.00
R1462:Syt3 UTSW 7 44396010 missense probably damaging 1.00
R1902:Syt3 UTSW 7 44390516 missense possibly damaging 0.92
R2848:Syt3 UTSW 7 44393442 missense probably benign 0.43
R2849:Syt3 UTSW 7 44393442 missense probably benign 0.43
R2924:Syt3 UTSW 7 44395798 missense probably damaging 1.00
R2925:Syt3 UTSW 7 44395798 missense probably damaging 1.00
R4560:Syt3 UTSW 7 44395944 missense probably benign 0.13
R5161:Syt3 UTSW 7 44396015 missense possibly damaging 0.95
R5430:Syt3 UTSW 7 44390913 missense possibly damaging 0.63
R5570:Syt3 UTSW 7 44390619 missense possibly damaging 0.92
R5572:Syt3 UTSW 7 44390718 missense probably benign 0.07
R5975:Syt3 UTSW 7 44392763 nonsense probably null
R6370:Syt3 UTSW 7 44395683 missense probably damaging 1.00
R7291:Syt3 UTSW 7 44395919 missense probably damaging 1.00
R7319:Syt3 UTSW 7 44392529 nonsense probably null
R7382:Syt3 UTSW 7 44392746 missense probably damaging 1.00
R7579:Syt3 UTSW 7 44390848 nonsense probably null
R7705:Syt3 UTSW 7 44392659 missense possibly damaging 0.95
R7743:Syt3 UTSW 7 44392667 missense probably damaging 1.00
R8122:Syt3 UTSW 7 44395729 missense probably damaging 1.00
Z1177:Syt3 UTSW 7 44390673 missense probably damaging 0.99
Z1177:Syt3 UTSW 7 44395647 missense probably damaging 0.99
Posted On2015-04-16