Incidental Mutation 'IGL01686:Cplx1'
ID 103946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cplx1
Ensembl Gene ENSMUSG00000033615
Gene Name complexin 1
Synonyms 921-S
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01686
Quality Score
Status
Chromosome 5
Chromosomal Location 108666420-108697890 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 108696393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046892] [ENSMUST00000129040] [ENSMUST00000129040]
AlphaFold P63040
Predicted Effect probably benign
Transcript: ENSMUST00000046892
AA Change: V4M

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038502
Gene: ENSMUSG00000033615
AA Change: V4M

DomainStartEndE-ValueType
Pfam:Synaphin 1 133 2.2e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000129040
SMART Domains Protein: ENSMUSP00000118118
Gene: ENSMUSG00000033615

DomainStartEndE-ValueType
Pfam:Synaphin 1 77 2.6e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000129040
SMART Domains Protein: ENSMUSP00000118118
Gene: ENSMUSG00000033615

DomainStartEndE-ValueType
Pfam:Synaphin 1 77 2.6e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196046
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene suffer from ataxia, are unable to reproduce, and die within 2-4 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,548,801 (GRCm39) V1316A possibly damaging Het
Ada T G 2: 163,572,236 (GRCm39) K254N probably benign Het
Adamts17 A G 7: 66,490,037 (GRCm39) R40G probably benign Het
Akr1d1 C T 6: 37,507,178 (GRCm39) probably benign Het
Aldh1l1 T A 6: 90,536,215 (GRCm39) probably benign Het
Bbox1 T A 2: 110,095,831 (GRCm39) I378F probably benign Het
BC028528 T C 3: 95,796,212 (GRCm39) N50S probably damaging Het
Casp8ap2 T A 4: 32,641,294 (GRCm39) S783T possibly damaging Het
Cmpk2 C T 12: 26,527,177 (GRCm39) R389W probably damaging Het
Crim1 T C 17: 78,651,863 (GRCm39) L529P probably benign Het
Ctps1 A G 4: 120,411,183 (GRCm39) S278P probably benign Het
Defb21 C A 2: 152,416,821 (GRCm39) probably benign Het
Ecm1 T A 3: 95,643,376 (GRCm39) N308I probably benign Het
Flg2 T C 3: 93,109,591 (GRCm39) S540P unknown Het
Gabrp G T 11: 33,502,826 (GRCm39) S346* probably null Het
Gli2 C A 1: 118,776,165 (GRCm39) C419F probably damaging Het
Grid2 T A 6: 64,297,180 (GRCm39) F514L probably benign Het
Hormad1 T G 3: 95,485,580 (GRCm39) M256R probably benign Het
Itsn2 T G 12: 4,686,693 (GRCm39) probably benign Het
Klhl38 A T 15: 58,186,707 (GRCm39) D7E probably benign Het
Map3k1 G A 13: 111,891,196 (GRCm39) T1248I possibly damaging Het
Mki67 A T 7: 135,309,542 (GRCm39) V303E probably benign Het
Mterf4 A T 1: 93,232,443 (GRCm39) L136* probably null Het
Mtmr14 A G 6: 113,217,391 (GRCm39) D61G possibly damaging Het
Nf2 A T 11: 4,768,613 (GRCm39) D85E probably benign Het
Nmnat2 G T 1: 152,952,743 (GRCm39) probably benign Het
Olfm3 T A 3: 114,916,497 (GRCm39) D476E probably benign Het
Or14c45 T C 7: 86,175,986 (GRCm39) V7A probably benign Het
Or8b53 T A 9: 38,667,550 (GRCm39) C189S probably damaging Het
Pdia6 T C 12: 17,333,958 (GRCm39) probably benign Het
Prrg1 G A X: 77,527,388 (GRCm39) A47V probably damaging Het
Rgs22 A T 15: 36,103,981 (GRCm39) I160K probably benign Het
Sardh T C 2: 27,079,625 (GRCm39) Y889C probably damaging Het
Syne2 C A 12: 75,956,110 (GRCm39) D605E probably benign Het
Other mutations in Cplx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02588:Cplx1 APN 5 108,673,289 (GRCm39) missense possibly damaging 0.71
hillbilly UTSW 5 108,668,031 (GRCm39) nonsense probably null
R1227:Cplx1 UTSW 5 108,673,262 (GRCm39) missense possibly damaging 0.92
R6666:Cplx1 UTSW 5 108,668,031 (GRCm39) nonsense probably null
R7002:Cplx1 UTSW 5 108,668,182 (GRCm39) missense probably damaging 0.98
R7074:Cplx1 UTSW 5 108,696,393 (GRCm39) splice site probably null
R7618:Cplx1 UTSW 5 108,673,395 (GRCm39) missense possibly damaging 0.71
R8777:Cplx1 UTSW 5 108,673,435 (GRCm39) critical splice acceptor site probably null
R8777-TAIL:Cplx1 UTSW 5 108,673,435 (GRCm39) critical splice acceptor site probably null
R9762:Cplx1 UTSW 5 108,673,378 (GRCm39) missense possibly damaging 0.84
Posted On 2014-01-21