Incidental Mutation 'R6370:Syt3'
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ID513471
Institutional Source Beutler Lab
Gene Symbol Syt3
Ensembl Gene ENSMUSG00000030731
Gene Namesynaptotagmin III
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.183) question?
Stock #R6370 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location44384102-44400187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44395683 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 480 (K480E)
Ref Sequence ENSEMBL: ENSMUSP00000112968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118831] [ENSMUST00000118962] [ENSMUST00000120262]
Predicted Effect probably damaging
Transcript: ENSMUST00000118831
AA Change: K480E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112432
Gene: ENSMUSG00000030731
AA Change: K480E

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 damaging
Transcript: ENSMUST00000118962
AA Change: K480E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114070
Gene: ENSMUSG00000030731
AA Change: K480E

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 damaging
Transcript: ENSMUST00000120262
AA Change: K480E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112968
Gene: ENSMUSG00000030731
AA Change: K480E

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 95% (54/57)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb6 A G 2: 30,827,012 V67A probably damaging Het
Atic T A 1: 71,578,660 F590I probably damaging Het
Atxn10 T C 15: 85,393,385 F351S probably damaging Het
Bcl2l13 A G 6: 120,865,622 N92S probably benign Het
Carm1 G T 9: 21,587,519 A518S probably benign Het
Ccar1 C T 10: 62,764,529 R541H probably damaging Het
Cfhr2 A T 1: 139,822,327 L96Q probably damaging Het
Chrnb4 A G 9: 55,034,859 L377S probably benign Het
Clcn3 A G 8: 60,923,024 Y639H probably damaging Het
Cngb1 C T 8: 95,264,422 M717I probably benign Het
Ctcf T C 8: 105,664,220 M153T probably benign Het
Cyp2b19 T C 7: 26,763,358 S222P probably benign Het
Dixdc1 A T 9: 50,682,223 probably null Het
Entpd2 G A 2: 25,397,417 G47S probably damaging Het
Erbb3 A G 10: 128,570,074 M1158T possibly damaging Het
Faah T C 4: 116,003,056 D333G probably damaging Het
Foxred2 T A 15: 77,943,306 T618S probably benign Het
Gm2381 G A 7: 42,820,586 A38V probably benign Het
Gpx5 A T 13: 21,288,702 probably null Het
Gtdc1 A G 2: 44,756,322 V98A probably damaging Het
Hal T C 10: 93,497,506 I312T probably damaging Het
Krtap21-1 T C 16: 89,403,631 Y41C unknown Het
Larp6 A G 9: 60,737,363 E262G probably damaging Het
Lrrn1 A G 6: 107,569,224 Y661C probably damaging Het
Lsm14a A G 7: 34,357,481 V244A probably benign Het
Marc1 T C 1: 184,795,492 D257G probably damaging Het
Mfrp T C 9: 44,106,261 C517R probably damaging Het
Ncoa3 T C 2: 166,065,905 S1145P probably benign Het
Nosip G T 7: 45,076,740 probably null Het
Olfr1186 T A 2: 88,499,368 C94* probably null Het
Olfr568 A T 7: 102,877,170 T17S probably benign Het
Olfr664 T C 7: 104,733,917 K149R probably benign Het
Phykpl T C 11: 51,586,716 S112P probably damaging Het
Pik3cb A T 9: 99,040,934 I1015K probably damaging Het
Pomt2 A G 12: 87,109,199 W818R probably damaging Het
Ptpn21 A T 12: 98,689,034 M558K possibly damaging Het
Rnf213 T A 11: 119,477,078 N4647K probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,579,907 probably benign Homo
Rxrg T C 1: 167,634,437 V227A probably damaging Het
Satb1 A T 17: 51,782,797 S341T possibly damaging Het
Skint5 T G 4: 113,614,110 Q983P unknown Het
Slc6a18 G A 13: 73,668,159 T367I probably benign Het
Slc7a1 A G 5: 148,340,673 L344P probably damaging Het
Slc7a6 T A 8: 106,195,437 F399I probably benign Het
St3gal1 A G 15: 67,111,346 V187A possibly damaging Het
Sugt1 T C 14: 79,610,334 V208A probably benign Het
Thop1 C T 10: 81,077,983 T186I probably benign Het
Trim55 G A 3: 19,691,486 E509K possibly damaging Het
Upf2 A G 2: 5,976,010 N469S unknown Het
Usp24 G T 4: 106,380,521 K1125N probably null Het
Usp5 A T 6: 124,820,428 D494E probably benign Het
Vmn2r51 T C 7: 10,098,216 K481R probably damaging Het
Vps16 C A 2: 130,443,384 A787D probably damaging Het
Washc4 C T 10: 83,571,362 H488Y possibly damaging Het
Wdfy4 C A 14: 33,068,850 A2053S probably benign Het
Zfp74 A T 7: 29,932,410 D136E probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CCTCACTGGTTTCTCAGGTGTG -3'
(R):5'- TCACTTCATTGTGGCCGATG -3'

Sequencing Primer
(F):5'- CAGGTGTGTCTGGGTTGAAGAAG -3'
(R):5'- GCCGATGCTGGAGATTGAG -3'
Posted On2018-04-27