Incidental Mutation 'IGL02554:Syngr3'
ID 298427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syngr3
Ensembl Gene ENSMUSG00000007021
Gene Name synaptogyrin 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02554
Quality Score
Status
Chromosome 17
Chromosomal Location 24904066-24908923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24905302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 198 (V198A)
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: V198A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000007236
Gene: ENSMUSG00000007021
AA Change: V198A

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
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T A 11: 48,838,830 (GRCm39) M586L probably damaging Het
Abcg3 T C 5: 105,117,318 (GRCm39) D204G possibly damaging Het
Acox3 C A 5: 35,765,710 (GRCm39) L588I probably damaging Het
Adamts9 G T 6: 92,857,828 (GRCm39) L849I probably benign Het
Alkbh3 T G 2: 93,826,692 (GRCm39) T170P probably damaging Het
Anks1b A T 10: 90,757,240 (GRCm39) H300L probably damaging Het
Arhgap29 T C 3: 121,786,173 (GRCm39) probably benign Het
Brd8dc A G 18: 34,726,068 (GRCm39) S112P probably benign Het
Cd86 C T 16: 36,438,847 (GRCm39) G181D probably benign Het
Cep68 A T 11: 20,190,096 (GRCm39) H305Q possibly damaging Het
Cimip4 A G 15: 78,262,736 (GRCm39) M245T possibly damaging Het
Clptm1l A T 13: 73,755,879 (GRCm39) D165V probably benign Het
Dctn1 T C 6: 83,159,704 (GRCm39) Y61H probably damaging Het
Dnah7a A T 1: 53,657,205 (GRCm39) M857K possibly damaging Het
Gpr158 A G 2: 21,831,407 (GRCm39) M836V probably benign Het
Gria1 G T 11: 57,180,314 (GRCm39) A755S possibly damaging Het
Helb G A 10: 119,925,617 (GRCm39) T920M probably damaging Het
Hr T C 14: 70,797,306 (GRCm39) probably benign Het
Igf2bp1 A G 11: 95,864,994 (GRCm39) S152P probably damaging Het
Iqsec1 T C 6: 90,646,327 (GRCm39) Y784C probably damaging Het
Ldah T A 12: 8,333,935 (GRCm39) C275* probably null Het
Lpin3 T C 2: 160,738,707 (GRCm39) S220P probably damaging Het
Med23 T C 10: 24,774,473 (GRCm39) probably null Het
Mllt1 T C 17: 57,206,806 (GRCm39) D346G probably benign Het
Myef2 A C 2: 124,942,345 (GRCm39) probably null Het
Myh2 A G 11: 67,079,991 (GRCm39) S1095G probably benign Het
Nav1 A G 1: 135,512,651 (GRCm39) silent Het
Or10a3m A G 7: 108,312,949 (GRCm39) M118V possibly damaging Het
Piwil2 G A 14: 70,628,935 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,441,896 (GRCm39) F3612I probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
S100pbp A T 4: 129,075,644 (GRCm39) probably null Het
Scnn1b T C 7: 121,516,746 (GRCm39) I495T probably damaging Het
Sgo2b A C 8: 64,379,571 (GRCm39) V1087G probably damaging Het
Sil1 A T 18: 35,481,786 (GRCm39) V91E probably damaging Het
Slc5a4b A G 10: 75,946,685 (GRCm39) I29T possibly damaging Het
Spink5 A T 18: 44,148,661 (GRCm39) N908I probably benign Het
Svopl A C 6: 37,993,978 (GRCm39) I351S probably damaging Het
Tbck C A 3: 132,456,953 (GRCm39) Y622* probably null Het
Tkt T A 14: 30,280,737 (GRCm39) M56K probably damaging Het
Trip10 T C 17: 57,570,135 (GRCm39) V544A probably damaging Het
Txndc16 T C 14: 45,409,995 (GRCm39) E195G probably damaging Het
Vmn2r69 G A 7: 85,059,014 (GRCm39) P516S probably damaging Het
Vmn2r74 T C 7: 85,606,581 (GRCm39) N255S probably benign Het
Xpo4 T C 14: 57,827,545 (GRCm39) T884A probably benign Het
Zdhhc2 A G 8: 40,915,155 (GRCm39) N167S probably damaging Het
Other mutations in Syngr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02739:Syngr3 APN 17 24,905,372 (GRCm39) missense probably damaging 0.99
R0568:Syngr3 UTSW 17 24,905,555 (GRCm39) missense probably benign 0.00
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
Posted On 2015-04-16