Incidental Mutation 'IGL02739:Syngr3'
ID305808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syngr3
Ensembl Gene ENSMUSG00000007021
Gene Namesynaptogyrin 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02739
Quality Score
Status
Chromosome17
Chromosomal Location24685092-24689955 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24686398 bp
ZygosityHeterozygous
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]
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: 76,878,517 C887S possibly damaging Het
Adamdec1 C A 14: 68,570,156 E352* probably null Het
Bglap2 A T 3: 88,378,012 probably null Het
Bsn A T 9: 108,112,546 H2002Q probably benign Het
Chtop T A 3: 90,502,250 Q165L possibly damaging Het
Clcn1 A T 6: 42,286,780 probably null Het
Ctsr T C 13: 61,161,844 T184A probably benign Het
Defb36 T C 2: 152,604,519 L11P unknown Het
Dock8 A G 19: 25,188,488 E1912G probably damaging Het
Dpp3 A G 19: 4,923,728 Y106H probably damaging Het
Epas1 A G 17: 86,805,282 T103A probably damaging Het
Epcam A T 17: 87,640,494 T131S probably benign Het
Fam169a A G 13: 97,094,055 probably benign Het
Gh T A 11: 106,301,733 probably benign Het
Kif20a A T 18: 34,628,943 K399* probably null Het
Lrp1b A G 2: 41,498,215 I466T probably damaging Het
Nlk A G 11: 78,574,851 V409A probably benign Het
Nomo1 A G 7: 46,044,307 probably null Het
Nr2c1 T A 10: 94,156,972 M16K probably damaging Het
Nxph2 A T 2: 23,399,900 Q88L probably benign Het
Olfr33 A G 7: 102,714,314 I33T possibly damaging Het
Pkdrej T A 15: 85,819,694 R680S probably benign Het
Pkhd1l1 A T 15: 44,540,950 N2325I probably benign Het
Pnliprp2 T C 19: 58,760,509 probably null Het
Ppp1r42 T A 1: 9,968,853 K347N probably benign Het
Prtg T C 9: 72,851,585 V407A possibly damaging Het
Psmb8 C A 17: 34,200,754 S194* probably null Het
Rnf214 T C 9: 45,869,474 I406V probably benign Het
Rreb1 C T 13: 37,893,821 S3L probably damaging Het
Sdad1 C T 5: 92,290,072 A539T probably benign Het
Sema3a A G 5: 13,451,161 Y57C probably damaging Het
Susd5 A G 9: 114,096,033 E328G possibly damaging Het
Tcf20 T A 15: 82,856,080 Q390L probably damaging Het
Tex15 A G 8: 33,581,693 T2423A possibly damaging Het
Tlr1 T C 5: 64,927,126 N36S probably benign Het
Uchl4 C T 9: 64,235,537 T100M probably damaging Het
Uhrf1 A G 17: 56,305,129 K11R probably benign Het
Vps13b T A 15: 35,879,900 D3040E probably damaging Het
Wdr62 A T 7: 30,242,460 Y640* probably null Het
Zkscan17 T G 11: 59,503,526 E83A probably damaging Het
Other mutations in Syngr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02554:Syngr3 APN 17 24686328 missense probably benign 0.00
R0568:Syngr3 UTSW 17 24686581 missense probably benign 0.00
R1019:Syngr3 UTSW 17 24687560 missense possibly damaging 0.88
R1398:Syngr3 UTSW 17 24686440 missense probably benign 0.00
R1547:Syngr3 UTSW 17 24687724 missense probably damaging 0.98
R1564:Syngr3 UTSW 17 24686668 splice site probably null
R1819:Syngr3 UTSW 17 24687722 missense possibly damaging 0.85
R1946:Syngr3 UTSW 17 24687706 missense probably benign 0.26
R4094:Syngr3 UTSW 17 24689843 unclassified probably benign
R5755:Syngr3 UTSW 17 24686535 missense probably damaging 1.00
R8033:Syngr3 UTSW 17 24686605 nonsense probably null
Posted On2015-04-16