Incidental Mutation 'IGL02751:Syt3'
ID306286
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? Possibly essential (E-score: 0.649) question?
Stock #IGL02751
Quality Score
Status
Chromosome7
Chromosomal Location44384102-44400187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44386062 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 31 (D31V)
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: D31V

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112432
Gene: ENSMUSG00000030731
AA Change: D31V

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: D31V

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114070
Gene: ENSMUSG00000030731
AA Change: D31V

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: D31V

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112968
Gene: ENSMUSG00000030731
AA Change: D31V

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 probably benign
Transcript: ENSMUST00000130707
Predicted Effect possibly damaging
Transcript: ENSMUST00000130844
AA Change: D31V

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,727,532 I324F possibly damaging Het
Ago2 G A 15: 73,130,897 A162V possibly damaging Het
Aox4 G T 1: 58,259,052 R1059I probably damaging Het
AU021092 C A 16: 5,212,619 V304L probably damaging Het
Bcs1l T G 1: 74,589,616 F20V probably damaging Het
Braf T C 6: 39,660,867 probably benign Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Ccdc116 T A 16: 17,141,972 R284S probably benign Het
Cntnap5a T G 1: 116,184,457 probably null Het
Col12a1 A T 9: 79,613,859 probably benign Het
Cpa4 T A 6: 30,581,740 Y229N probably damaging Het
Fbp1 A C 13: 62,875,143 probably null Het
Gimap3 A T 6: 48,765,238 W253R probably benign Het
Gm1330 G A 2: 148,990,473 probably benign Het
Gm4841 A G 18: 60,271,021 probably benign Het
Grip1 A G 10: 119,978,577 T338A probably benign Het
Hmg20b A T 10: 81,346,551 probably benign Het
Hnrnpdl A G 5: 100,037,974 F151L probably damaging Het
Klhl30 T A 1: 91,354,099 F141I probably damaging Het
Lamc3 T A 2: 31,920,704 F862Y probably benign Het
Lap3 T C 5: 45,504,796 C313R probably damaging Het
Lrp2 T C 2: 69,533,462 T344A possibly damaging Het
Mga A G 2: 119,947,770 E2023G possibly damaging Het
Mical2 A T 7: 112,332,036 K735N probably benign Het
Muc15 A G 2: 110,731,773 T185A probably benign Het
Olfr109 T C 17: 37,466,415 C70R probably damaging Het
Osbp2 T C 11: 3,863,434 K145R probably benign Het
Pde1c T C 6: 56,181,688 T52A probably damaging Het
Pidd1 A G 7: 141,439,163 S802P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prep T A 10: 45,115,186 I316N probably damaging Het
Prl3d2 G A 13: 27,126,031 probably null Het
Pygo1 A T 9: 72,945,037 I169F probably benign Het
Rnf10 G T 5: 115,242,666 A716E probably benign Het
Rtn4 G A 11: 29,706,409 probably null Het
Ryr1 A T 7: 29,078,774 V2099E probably damaging Het
Slc48a1 G A 15: 97,790,080 probably benign Het
Spag17 T A 3: 100,010,794 Y364* probably null Het
Tango2 G T 16: 18,307,993 P143H probably benign Het
Tas2r104 A G 6: 131,685,144 S201P probably damaging Het
Tas2r107 G A 6: 131,659,484 L201F probably damaging Het
Vmn1r81 A T 7: 12,260,447 L78Q probably damaging Het
Vmn2r18 T A 5: 151,584,607 T351S probably benign Het
Other mutations in Syt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Syt3 APN 7 44390999 missense possibly damaging 0.95
IGL02738:Syt3 APN 7 44386023 missense possibly damaging 0.53
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
Posted On2015-04-16