Incidental Mutation 'IGL02739:Syngr3'
ID 305808
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 # IGL02739
Quality Score
Status
Chromosome 17
Chromosomal Location 24904066-24908923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24905372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 175 (T175A)
Ref Sequence ENSEMBL: ENSMUSP00000007236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007236] [ENSMUST00000047179]
AlphaFold Q8R191
Predicted Effect probably damaging
Transcript: ENSMUST00000007236
AA Change: T175A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000007236
Gene: ENSMUSG00000007021
AA Change: T175A

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,026,364 (GRCm39) C887S possibly damaging Het
Adamdec1 C A 14: 68,807,605 (GRCm39) E352* probably null Het
Bglap2 A T 3: 88,285,319 (GRCm39) probably null Het
Bsn A T 9: 107,989,745 (GRCm39) H2002Q probably benign Het
Chtop T A 3: 90,409,557 (GRCm39) Q165L possibly damaging Het
Clcn1 A T 6: 42,263,714 (GRCm39) probably null Het
Ctsr T C 13: 61,309,658 (GRCm39) T184A probably benign Het
Defb36 T C 2: 152,446,439 (GRCm39) L11P unknown Het
Dock8 A G 19: 25,165,852 (GRCm39) E1912G probably damaging Het
Dpp3 A G 19: 4,973,756 (GRCm39) Y106H probably damaging Het
Epas1 A G 17: 87,112,710 (GRCm39) T103A probably damaging Het
Epcam A T 17: 87,947,922 (GRCm39) T131S probably benign Het
Fam169a A G 13: 97,230,563 (GRCm39) probably benign Het
Gh T A 11: 106,192,559 (GRCm39) probably benign Het
Kif20a A T 18: 34,761,996 (GRCm39) K399* probably null Het
Lrp1b A G 2: 41,388,227 (GRCm39) I466T probably damaging Het
Nlk A G 11: 78,465,677 (GRCm39) V409A probably benign Het
Nomo1 A G 7: 45,693,731 (GRCm39) probably null Het
Nr2c1 T A 10: 93,992,834 (GRCm39) M16K probably damaging Het
Nxph2 A T 2: 23,289,912 (GRCm39) Q88L probably benign Het
Or51a39 A G 7: 102,363,521 (GRCm39) I33T possibly damaging Het
Pkdrej T A 15: 85,703,895 (GRCm39) R680S probably benign Het
Pkhd1l1 A T 15: 44,404,346 (GRCm39) N2325I probably benign Het
Pnliprp2 T C 19: 58,748,941 (GRCm39) probably null Het
Ppp1r42 T A 1: 10,039,078 (GRCm39) K347N probably benign Het
Prtg T C 9: 72,758,867 (GRCm39) V407A possibly damaging Het
Psmb8 C A 17: 34,419,728 (GRCm39) S194* probably null Het
Rnf214 T C 9: 45,780,772 (GRCm39) I406V probably benign Het
Rreb1 C T 13: 38,077,797 (GRCm39) S3L probably damaging Het
Sdad1 C T 5: 92,437,931 (GRCm39) A539T probably benign Het
Sema3a A G 5: 13,501,128 (GRCm39) Y57C probably damaging Het
Susd5 A G 9: 113,925,101 (GRCm39) E328G possibly damaging Het
Tcf20 T A 15: 82,740,281 (GRCm39) Q390L probably damaging Het
Tex15 A G 8: 34,071,721 (GRCm39) T2423A possibly damaging Het
Tlr1 T C 5: 65,084,469 (GRCm39) N36S probably benign Het
Uchl4 C T 9: 64,142,819 (GRCm39) T100M probably damaging Het
Uhrf1 A G 17: 56,612,129 (GRCm39) K11R probably benign Het
Vps13b T A 15: 35,880,046 (GRCm39) D3040E probably damaging Het
Wdr62 A T 7: 29,941,885 (GRCm39) Y640* probably null Het
Zkscan17 T G 11: 59,394,352 (GRCm39) E83A probably damaging Het
Other mutations in Syngr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02554:Syngr3 APN 17 24,905,302 (GRCm39) missense probably benign 0.00
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