Incidental Mutation 'IGL00755:Cplx4'
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ID12546
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cplx4
Ensembl Gene ENSMUSG00000024519
Gene Namecomplexin 4
SynonymsA930004D23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00755
Quality Score
Status
Chromosome18
Chromosomal Location65955727-65970178 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 65957095 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025397]
Predicted Effect probably benign
Transcript: ENSMUST00000025397
SMART Domains Protein: ENSMUSP00000025397
Gene: ENSMUSG00000024519

DomainStartEndE-ValueType
Pfam:Synaphin 1 140 2.7e-49 PFAM
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 likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle exocytosis. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile displaying only slight abnormalities in eye electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,542,102 Y4381C possibly damaging Het
Card6 G A 15: 5,098,941 T991I possibly damaging Het
Cd163 A G 6: 124,318,657 N684S possibly damaging Het
Cep290 A G 10: 100,531,104 T1106A probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Dnah6 A T 6: 73,212,434 probably null Het
Dock8 A G 19: 25,051,509 K26E probably benign Het
Fancl G A 11: 26,470,916 V349I probably benign Het
Gsg1l A G 7: 125,923,426 F210S possibly damaging Het
Mboat2 T A 12: 24,957,646 V419E probably benign Het
Mycbp2 A G 14: 103,194,621 V2327A possibly damaging Het
Ndnf C T 6: 65,703,258 P174S probably damaging Het
Nlrp9b A T 7: 20,023,522 D228V probably damaging Het
Prps2 A T X: 167,374,142 I56N possibly damaging Het
Reln A G 5: 22,060,380 V438A probably damaging Het
Rmdn1 T A 4: 19,580,401 N42K probably benign Het
Sass6 G A 3: 116,618,328 E312K probably damaging Het
Scrn1 T A 6: 54,520,709 D299V possibly damaging Het
Slk T A 19: 47,609,010 C86S probably damaging Het
Veph1 C T 3: 66,255,010 E76K probably damaging Het
Zfp282 C T 6: 47,880,390 P186S probably damaging Het
Other mutations in Cplx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01577:Cplx4 APN 18 65969944 missense probably damaging 1.00
IGL02124:Cplx4 APN 18 65970052 utr 5 prime probably benign
IGL02137:Cplx4 APN 18 65957054 missense probably benign 0.06
IGL02885:Cplx4 APN 18 65956913 missense probably damaging 1.00
IGL03263:Cplx4 APN 18 65967488 missense probably benign 0.04
R0894:Cplx4 UTSW 18 65957045 missense possibly damaging 0.92
R2107:Cplx4 UTSW 18 65956893 missense probably benign 0.05
R3767:Cplx4 UTSW 18 65969927 missense probably benign 0.39
R3768:Cplx4 UTSW 18 65969927 missense probably benign 0.39
R3769:Cplx4 UTSW 18 65969927 missense probably benign 0.39
R4772:Cplx4 UTSW 18 65969977 missense possibly damaging 0.94
R5347:Cplx4 UTSW 18 65970086 start gained probably benign
R7081:Cplx4 UTSW 18 65967467 critical splice donor site probably null
R7231:Cplx4 UTSW 18 65957052 missense probably damaging 1.00
R7953:Cplx4 UTSW 18 65957119 splice site probably null
R8043:Cplx4 UTSW 18 65957119 splice site probably null
R8469:Cplx4 UTSW 18 65957012 missense possibly damaging 0.56
Posted On2012-12-06