Incidental Mutation 'IGL02207:Syn1'
ID284543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syn1
Ensembl Gene ENSMUSG00000037217
Gene Namesynapsin I
SynonymsSynapsin Ia, Syn-1, Synapsin Ib
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02207
Quality Score
Status
ChromosomeX
Chromosomal Location20860511-20921004 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20865137 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 321 (Q321R)
Ref Sequence ENSEMBL: ENSMUSP00000111002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001155] [ENSMUST00000081893] [ENSMUST00000115345] [ENSMUST00000136451]
Predicted Effect probably benign
Transcript: ENSMUST00000001155
SMART Domains Protein: ENSMUSP00000001155
Gene: ENSMUSG00000001127

DomainStartEndE-ValueType
RBD 19 91 1.46e-28 SMART
C1 99 144 7.68e-12 SMART
low complexity region 243 268 N/A INTRINSIC
Pfam:Pkinase_Tyr 308 565 1.9e-61 PFAM
Pfam:Pkinase 308 566 1.7e-56 PFAM
Pfam:Kinase-like 388 555 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081893
AA Change: Q321R

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000080568
Gene: ENSMUSG00000037217
AA Change: Q321R

DomainStartEndE-ValueType
Pfam:Synapsin_N 1 32 1.3e-23 PFAM
low complexity region 87 94 N/A INTRINSIC
Pfam:Synapsin 111 212 7.8e-47 PFAM
Pfam:Synapsin_C 214 416 3.2e-124 PFAM
low complexity region 427 440 N/A INTRINSIC
low complexity region 450 491 N/A INTRINSIC
low complexity region 493 505 N/A INTRINSIC
low complexity region 509 524 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
low complexity region 579 600 N/A INTRINSIC
low complexity region 608 636 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115345
AA Change: Q321R

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000111002
Gene: ENSMUSG00000037217
AA Change: Q321R

DomainStartEndE-ValueType
Pfam:Synapsin_N 1 32 1.3e-23 PFAM
low complexity region 87 94 N/A INTRINSIC
Pfam:Synapsin 110 212 3.2e-60 PFAM
Pfam:Synapsin_C 214 416 1.1e-132 PFAM
Pfam:RimK 229 409 3.3e-8 PFAM
low complexity region 427 440 N/A INTRINSIC
low complexity region 450 491 N/A INTRINSIC
low complexity region 493 505 N/A INTRINSIC
low complexity region 509 524 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
low complexity region 579 600 N/A INTRINSIC
low complexity region 608 636 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128250
SMART Domains Protein: ENSMUSP00000119544
Gene: ENSMUSG00000001127

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 5 109 3.8e-15 PFAM
Pfam:Pkinase 16 109 2.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136451
SMART Domains Protein: ENSMUSP00000115793
Gene: ENSMUSG00000001127

DomainStartEndE-ValueType
RBD 56 128 1.46e-28 SMART
C1 136 181 7.68e-12 SMART
low complexity region 280 305 N/A INTRINSIC
Pfam:Pkinase_Tyr 345 401 2.3e-7 PFAM
Pfam:Pkinase 345 403 7.2e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176786
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 is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes impaired CNS synapse formation and synaptic vesicle (SV) clustering, and may lead to altered SV recycling and inhibitory postsynaptic currents, convulsive seizures, increased response to electrical stimulation,and enhanced paired-pulse facilitation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110034G24Rik A T 2: 132,691,946 probably benign Het
Adamtsl2 A G 2: 27,102,981 E702G probably damaging Het
Adgre5 T C 8: 83,728,284 T260A probably damaging Het
Agap3 A T 5: 24,499,936 T660S probably benign Het
Amotl2 A T 9: 102,724,697 E380V probably damaging Het
Ap4e1 A G 2: 127,011,816 E58G probably damaging Het
Arap3 G A 18: 37,987,853 A713V probably benign Het
B4galt2 T C 4: 117,881,521 D33G probably damaging Het
Bbs7 A T 3: 36,604,490 S212T probably benign Het
Ccl26 A G 5: 135,563,370 Y38H probably benign Het
Ccne2 A T 4: 11,202,261 S339C probably benign Het
Cd55 A G 1: 130,452,419 V274A possibly damaging Het
Cenpw T G 10: 30,198,581 probably null Het
Chrnb4 T C 9: 55,035,216 D258G probably damaging Het
Col4a3bp T C 13: 96,624,792 probably null Het
Commd3 T C 2: 18,674,008 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b23 C A 7: 26,681,755 R59L probably damaging Het
Edar G T 10: 58,610,521 T194K probably damaging Het
Edem3 A G 1: 151,808,360 I733V possibly damaging Het
Elmod2 T C 8: 83,321,506 Y109C probably benign Het
Eps15 C T 4: 109,304,748 probably benign Het
Fat4 T C 3: 38,951,263 V1937A probably benign Het
Fdx1l T A 9: 21,068,119 probably null Het
Flg2 A T 3: 93,220,128 I2116F unknown Het
Gm15091 A G X: 149,977,466 D424G possibly damaging Het
Gm16380 T A 9: 53,884,539 noncoding transcript Het
Gm6614 A T 6: 141,990,432 I309N possibly damaging Het
Gpn2 G A 4: 133,584,636 V60M possibly damaging Het
Grip1 G A 10: 120,075,309 R1044K probably damaging Het
H2-D1 T A 17: 35,263,414 S37T possibly damaging Het
Havcr1 C T 11: 46,778,576 A294V probably benign Het
Herc4 G A 10: 63,299,244 probably null Het
Ift140 A G 17: 25,055,598 Y748C probably benign Het
Il20ra A G 10: 19,751,578 T242A probably damaging Het
Ilvbl G A 10: 78,583,702 probably null Het
Kif18a A T 2: 109,296,707 I329L probably damaging Het
Kmt2a T A 9: 44,847,682 I957F probably damaging Het
Krt1 A G 15: 101,848,616 I282T possibly damaging Het
Lamb1 T G 12: 31,329,435 V1768G probably damaging Het
Nek9 A T 12: 85,303,483 L939* probably null Het
Nfe2l2 A G 2: 75,678,525 L122P probably damaging Het
Nin T C 12: 70,056,657 M270V probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Nrde2 T C 12: 100,130,931 Y870C probably benign Het
Nsmce2 A G 15: 59,416,078 M71V probably benign Het
Ocstamp T C 2: 165,397,663 H201R possibly damaging Het
Olfr1126 A G 2: 87,457,450 D95G probably benign Het
Olfr744 G A 14: 50,618,558 G112D probably damaging Het
Oog4 T C 4: 143,438,940 I212M probably benign Het
Osmr T C 15: 6,847,147 T99A probably benign Het
Pdia4 A T 6: 47,796,807 M536K probably benign Het
Pdyn A T 2: 129,688,518 L77H probably damaging Het
Pikfyve T C 1: 65,251,678 probably null Het
Plcb1 A G 2: 135,387,171 E1105G probably damaging Het
Rb1 A T 14: 73,206,085 D743E probably damaging Het
Rdh14 G A 12: 10,394,712 V188I possibly damaging Het
Scd3 T C 19: 44,215,589 V72A possibly damaging Het
Slc25a27 G A 17: 43,661,684 R104W probably damaging Het
Slc29a4 A G 5: 142,718,885 D394G possibly damaging Het
Snx29 T G 16: 11,738,352 M407R probably damaging Het
Syf2 A G 4: 134,935,052 probably null Het
Tbc1d12 A T 19: 38,916,647 D602V probably damaging Het
Tenm4 A T 7: 96,874,116 I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 probably benign Het
Trav6-2 G A 14: 52,667,432 V8M possibly damaging Het
Unc119b A G 5: 115,134,754 S53P probably benign Het
Vmp1 T A 11: 86,607,193 I299F possibly damaging Het
Xpot T C 10: 121,613,580 Y194C probably damaging Het
Zbtb10 T A 3: 9,280,465 probably null Het
Other mutations in Syn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Z1177:Syn1 UTSW X 20909361 missense possibly damaging 0.93
Posted On2015-04-16