Incidental Mutation 'R1204:Syt3'
ID 100332
Institutional Source Beutler Lab
Gene Symbol Syt3
Ensembl Gene ENSMUSG00000030731
Gene Name synaptotagmin III
Synonyms
MMRRC Submission 039274-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R1204 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44033526-44049611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44042091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 317 (I317F)
Ref Sequence ENSEMBL: ENSMUSP00000112968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118831] [ENSMUST00000118962] [ENSMUST00000120262]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000118831
AA Change: I317F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112432
Gene: ENSMUSG00000030731
AA Change: I317F

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: I317F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114070
Gene: ENSMUSG00000030731
AA Change: I317F

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: I317F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112968
Gene: ENSMUSG00000030731
AA Change: I317F

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 noncoding transcript
Transcript: ENSMUST00000206723
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,328,214 (GRCm39) I133F probably damaging Het
Acyp1 A T 12: 85,326,866 (GRCm39) probably null Het
Ermap T C 4: 119,046,064 (GRCm39) K22R possibly damaging Het
Glce T C 9: 61,977,849 (GRCm39) T12A probably damaging Het
Hao1 G A 2: 134,364,947 (GRCm39) R227* probably null Het
Hectd4 A G 5: 121,488,548 (GRCm39) D3613G possibly damaging Het
Hspa2 A G 12: 76,451,641 (GRCm39) M112V probably benign Het
Knl1 A G 2: 118,901,670 (GRCm39) I1124V probably benign Het
Lrch3 T C 16: 32,829,584 (GRCm39) I738T probably damaging Het
Mgrn1 T G 16: 4,725,273 (GRCm39) F44V probably damaging Het
Or1af1 A G 2: 37,109,651 (GRCm39) Q50R probably benign Het
Otog G A 7: 45,909,335 (GRCm39) V602M probably benign Het
Pik3r5 T G 11: 68,385,050 (GRCm39) L652V probably benign Het
Pkdrej G A 15: 85,702,513 (GRCm39) T1141M probably damaging Het
Sema3a T C 5: 13,573,142 (GRCm39) probably benign Het
Tmem214 C T 5: 31,033,134 (GRCm39) A509V probably damaging Het
Tmem25 T C 9: 44,706,529 (GRCm39) E284G probably benign Het
Trim9 T C 12: 70,393,501 (GRCm39) N148D probably damaging Het
Vmn2r107 A G 17: 20,578,031 (GRCm39) R447G probably benign Het
Zfp964 A T 8: 70,116,668 (GRCm39) I423L probably benign Het
Other mutations in Syt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Syt3 APN 7 44,040,423 (GRCm39) missense possibly damaging 0.95
IGL02738:Syt3 APN 7 44,035,447 (GRCm39) missense possibly damaging 0.53
IGL02751:Syt3 APN 7 44,035,486 (GRCm39) missense possibly damaging 0.60
R0129:Syt3 UTSW 7 44,042,782 (GRCm39) missense probably damaging 1.00
R0749:Syt3 UTSW 7 44,048,571 (GRCm39) missense probably benign 0.41
R1022:Syt3 UTSW 7 44,040,106 (GRCm39) missense probably damaging 0.99
R1024:Syt3 UTSW 7 44,040,106 (GRCm39) missense probably damaging 0.99
R1462:Syt3 UTSW 7 44,045,434 (GRCm39) missense probably damaging 1.00
R1462:Syt3 UTSW 7 44,045,434 (GRCm39) missense probably damaging 1.00
R1902:Syt3 UTSW 7 44,039,940 (GRCm39) missense possibly damaging 0.92
R2848:Syt3 UTSW 7 44,042,866 (GRCm39) missense probably benign 0.43
R2849:Syt3 UTSW 7 44,042,866 (GRCm39) missense probably benign 0.43
R2924:Syt3 UTSW 7 44,045,222 (GRCm39) missense probably damaging 1.00
R2925:Syt3 UTSW 7 44,045,222 (GRCm39) missense probably damaging 1.00
R4560:Syt3 UTSW 7 44,045,368 (GRCm39) missense probably benign 0.13
R5161:Syt3 UTSW 7 44,045,439 (GRCm39) missense possibly damaging 0.95
R5430:Syt3 UTSW 7 44,040,337 (GRCm39) missense possibly damaging 0.63
R5570:Syt3 UTSW 7 44,040,043 (GRCm39) missense possibly damaging 0.92
R5572:Syt3 UTSW 7 44,040,142 (GRCm39) missense probably benign 0.07
R5975:Syt3 UTSW 7 44,042,187 (GRCm39) nonsense probably null
R6370:Syt3 UTSW 7 44,045,107 (GRCm39) missense probably damaging 1.00
R7291:Syt3 UTSW 7 44,045,343 (GRCm39) missense probably damaging 1.00
R7319:Syt3 UTSW 7 44,041,953 (GRCm39) nonsense probably null
R7382:Syt3 UTSW 7 44,042,170 (GRCm39) missense probably damaging 1.00
R7579:Syt3 UTSW 7 44,040,272 (GRCm39) nonsense probably null
R7705:Syt3 UTSW 7 44,042,083 (GRCm39) missense possibly damaging 0.95
R7743:Syt3 UTSW 7 44,042,091 (GRCm39) missense probably damaging 1.00
R8122:Syt3 UTSW 7 44,045,153 (GRCm39) missense probably damaging 1.00
R9134:Syt3 UTSW 7 44,042,791 (GRCm39) missense possibly damaging 0.62
R9705:Syt3 UTSW 7 44,045,225 (GRCm39) missense probably damaging 1.00
Z1177:Syt3 UTSW 7 44,045,071 (GRCm39) missense probably damaging 0.99
Z1177:Syt3 UTSW 7 44,040,097 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTCATCGGTCAGATCAAACCAGAGC -3'
(R):5'- TCAGACTCAGGATACAGACCTCAGC -3'

Sequencing Primer
(F):5'- AGAGCTGTACCAGGGCAC -3'
(R):5'- TGGTGGACcacacacacac -3'
Posted On 2014-01-15