Incidental Mutation 'R0568:Syngr3'
ID 46277
Institutional Source Beutler Lab
Gene Symbol Syngr3
Ensembl Gene ENSMUSG00000007021
Gene Name synaptogyrin 3
Synonyms
MMRRC Submission 038759-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0568 (G1)
Quality Score 176
Status Validated
Chromosome 17
Chromosomal Location 24904066-24908923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24905555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 140 (A140T)
Ref Sequence ENSEMBL: ENSMUSP00000007236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007236] [ENSMUST00000047179]
AlphaFold Q8R191
Predicted Effect probably benign
Transcript: ENSMUST00000007236
AA Change: A140T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000007236
Gene: ENSMUSG00000007021
AA Change: A140T

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Pfam:MARVEL 20 166 4.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047179
SMART Domains Protein: ENSMUSP00000038367
Gene: ENSMUSG00000041130

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
RING 27 66 4.73e-1 SMART
ZnF_C2H2 115 140 9.46e0 SMART
low complexity region 144 153 N/A INTRINSIC
ZnF_C2H2 185 208 5.2e0 SMART
ZnF_C2H2 209 237 7.11e0 SMART
ZnF_C2H2 238 268 6.47e1 SMART
low complexity region 311 331 N/A INTRINSIC
low complexity region 344 356 N/A INTRINSIC
low complexity region 371 385 N/A INTRINSIC
low complexity region 445 454 N/A INTRINSIC
low complexity region 482 501 N/A INTRINSIC
low complexity region 526 544 N/A INTRINSIC
low complexity region 581 589 N/A INTRINSIC
low complexity region 645 663 N/A INTRINSIC
low complexity region 668 683 N/A INTRINSIC
low complexity region 694 748 N/A INTRINSIC
ZnF_C2H2 869 890 8.84e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130936
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 G A 4: 49,451,003 (GRCm39) T36I possibly damaging Het
Adamts20 T C 15: 94,189,594 (GRCm39) probably benign Het
Adamtsl1 T C 4: 86,336,789 (GRCm39) L1558S probably damaging Het
Ap3b2 A G 7: 81,114,377 (GRCm39) probably null Het
Bag2 T C 1: 33,786,059 (GRCm39) M88V probably benign Het
Brms1l A G 12: 55,908,173 (GRCm39) probably null Het
C8b A G 4: 104,650,577 (GRCm39) I462V probably benign Het
Cfap410 C T 10: 77,818,872 (GRCm39) T181I possibly damaging Het
Cfap410 A T 10: 77,820,381 (GRCm39) *250C probably null Het
Cnpy4 A G 5: 138,190,839 (GRCm39) E167G probably damaging Het
Copa T C 1: 171,939,704 (GRCm39) V624A possibly damaging Het
Gm4553 G T 7: 141,719,357 (GRCm39) P24T unknown Het
Gna12 A G 5: 140,746,638 (GRCm39) V269A possibly damaging Het
Gtf2ird2 G T 5: 134,240,083 (GRCm39) E302* probably null Het
Hmcn2 C A 2: 31,305,248 (GRCm39) S3140R probably benign Het
Hspa4 A G 11: 53,153,703 (GRCm39) probably benign Het
Hspbp1 A T 7: 4,687,431 (GRCm39) L60* probably null Het
Lats1 A T 10: 7,588,292 (GRCm39) I970F possibly damaging Het
Lipo3 T C 19: 33,559,442 (GRCm39) probably benign Het
Lrrc3 T A 10: 77,737,419 (GRCm39) R6W probably damaging Het
Lxn C T 3: 67,368,335 (GRCm39) A143T probably damaging Het
Mga T C 2: 119,765,903 (GRCm39) I1390T probably damaging Het
Ncapg2 T A 12: 116,386,835 (GRCm39) I286N probably damaging Het
Or4c107 T A 2: 88,789,387 (GRCm39) Y192* probably null Het
Pitpnm2 A G 5: 124,278,580 (GRCm39) probably benign Het
Plxna2 T C 1: 194,433,694 (GRCm39) V581A probably benign Het
Polr3d A T 14: 70,676,959 (GRCm39) H378Q possibly damaging Het
Ptpn13 T C 5: 103,637,631 (GRCm39) V173A probably damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Smc4 T C 3: 68,929,794 (GRCm39) probably null Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Tent2 A G 13: 93,291,500 (GRCm39) S381P probably benign Het
Tprn T C 2: 25,154,333 (GRCm39) V545A probably damaging Het
Trim66 T C 7: 109,059,902 (GRCm39) H828R probably benign Het
Ugt2b5 G A 5: 87,285,224 (GRCm39) probably benign Het
Vps9d1 A G 8: 123,973,487 (GRCm39) V432A probably damaging Het
Zswim9 A T 7: 12,994,952 (GRCm39) D401E probably damaging Het
Other mutations in Syngr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02554:Syngr3 APN 17 24,905,302 (GRCm39) missense probably benign 0.00
IGL02739:Syngr3 APN 17 24,905,372 (GRCm39) missense probably damaging 0.99
R1019:Syngr3 UTSW 17 24,906,534 (GRCm39) missense possibly damaging 0.88
R1398:Syngr3 UTSW 17 24,905,414 (GRCm39) missense probably benign 0.00
R1547:Syngr3 UTSW 17 24,906,698 (GRCm39) missense probably damaging 0.98
R1564:Syngr3 UTSW 17 24,905,642 (GRCm39) splice site probably null
R1819:Syngr3 UTSW 17 24,906,696 (GRCm39) missense possibly damaging 0.85
R1946:Syngr3 UTSW 17 24,906,680 (GRCm39) missense probably benign 0.26
R4094:Syngr3 UTSW 17 24,908,817 (GRCm39) unclassified probably benign
R5755:Syngr3 UTSW 17 24,905,509 (GRCm39) missense probably damaging 1.00
R8033:Syngr3 UTSW 17 24,905,579 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACGGTAGGACCCAGAAAAGGTCTC -3'
(R):5'- CAGAATCTCTTTAGGGCACGCCAG -3'

Sequencing Primer
(F):5'- TACCTAGCTGATCTGTGGCAAAG -3'
(R):5'- CATGTGAATGGCAATTTGCTGG -3'
Posted On 2013-06-11