Incidental Mutation 'IGL00911:Clstn1'
ID27225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clstn1
Ensembl Gene ENSMUSG00000039953
Gene Namecalsyntenin 1
SynonymsCst-1, calsyntenin-1, 1810034E21Rik, alcadein alpha
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00911
Quality Score
Status
Chromosome4
Chromosomal Location149586468-149648899 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to G at 149643191 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039144] [ENSMUST00000105691]
Predicted Effect probably benign
Transcript: ENSMUST00000039144
SMART Domains Protein: ENSMUSP00000036962
Gene: ENSMUSG00000039953

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 59 162 1.25e-11 SMART
CA 185 263 1.03e-3 SMART
Pfam:Laminin_G_3 365 510 3.3e-9 PFAM
low complexity region 663 674 N/A INTRINSIC
transmembrane domain 860 882 N/A INTRINSIC
coiled coil region 915 949 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105691
SMART Domains Protein: ENSMUSP00000101316
Gene: ENSMUSG00000039953

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 59 152 2.91e-12 SMART
CA 175 253 1.03e-3 SMART
Pfam:Laminin_G_3 350 544 1.1e-12 PFAM
low complexity region 653 664 N/A INTRINSIC
transmembrane domain 850 872 N/A INTRINSIC
coiled coil region 905 939 N/A INTRINSIC
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 calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Juvenile mice homozygous for a null allele show reduced basal excitatory synaptic transmission, abnormal excitatory postsynaptic currents, enhanced NMDA receptor-dependent long term potentiation, and delayed dendritic spine maturation in CA1 hippocampal pyramidal cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm T C 5: 90,525,591 V234A probably benign Het
Alas1 T A 9: 106,236,472 I525F probably benign Het
Ambra1 T A 2: 91,767,682 probably benign Het
Apbb2 G A 5: 66,451,512 T264M probably damaging Het
Arhgap40 A G 2: 158,534,716 probably benign Het
Chd9 C T 8: 91,051,692 P2793L probably damaging Het
Cyp2f2 T C 7: 27,121,929 V13A probably damaging Het
Dnah1 C T 14: 31,304,434 probably null Het
Eogt A T 6: 97,120,000 V349E probably damaging Het
Epb41 T C 4: 131,989,784 D353G possibly damaging Het
Fam172a T A 13: 77,951,975 probably benign Het
Fbxo38 T A 18: 62,530,800 I207F possibly damaging Het
Frem2 T C 3: 53,572,462 S1937G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh3 G T 15: 99,233,001 G500* probably null Het
Khdc1b A T 1: 21,384,354 K94* probably null Het
Lpcat2 T C 8: 92,890,710 Y367H probably damaging Het
Lrrd1 A C 5: 3,865,689 N762T probably benign Het
Mbl2 T A 19: 30,238,394 D100E possibly damaging Het
Mthfr T G 4: 148,041,302 S31A probably benign Het
Nrp1 T A 8: 128,476,207 S558T probably benign Het
Nrxn3 T C 12: 90,204,592 L1254P probably damaging Het
Olfr693 A T 7: 106,677,833 Y218N probably damaging Het
Pabpc1l C A 2: 164,042,423 T360K probably damaging Het
Pcgf1 G A 6: 83,080,625 G92S probably damaging Het
Penk T C 4: 4,134,347 Y100C probably damaging Het
Pik3r1 T C 13: 101,757,661 probably benign Het
Pkhd1 T A 1: 20,117,747 T3446S probably benign Het
Plcg2 G A 8: 117,586,515 D473N probably benign Het
Poll G T 19: 45,553,601 T422K probably damaging Het
Skint3 T A 4: 112,255,909 probably benign Het
Stab2 C A 10: 86,969,753 C243F probably damaging Het
Supt6 T C 11: 78,231,181 E215G possibly damaging Het
Tas1r2 C A 4: 139,660,291 P354T probably benign Het
Tenm2 G A 11: 36,008,733 Q2533* probably null Het
Tmem121 C T 12: 113,188,231 A23V probably damaging Het
Other mutations in Clstn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Clstn1 APN 4 149635243 missense probably damaging 0.99
IGL00585:Clstn1 APN 4 149638312 missense probably benign 0.05
IGL01394:Clstn1 APN 4 149634782 missense possibly damaging 0.87
IGL02193:Clstn1 APN 4 149645352 missense probably benign 0.03
IGL02406:Clstn1 APN 4 149627359 missense probably damaging 1.00
IGL02501:Clstn1 APN 4 149631842 missense probably damaging 1.00
IGL02641:Clstn1 APN 4 149629511 missense probably null 1.00
R0012:Clstn1 UTSW 4 149634796 missense probably damaging 0.96
R0020:Clstn1 UTSW 4 149634796 missense probably damaging 0.96
R0021:Clstn1 UTSW 4 149634796 missense probably damaging 0.96
R0026:Clstn1 UTSW 4 149634796 missense probably damaging 0.96
R0031:Clstn1 UTSW 4 149634796 missense probably damaging 0.96
R0038:Clstn1 UTSW 4 149634796 missense probably damaging 0.96
R0062:Clstn1 UTSW 4 149634796 missense probably damaging 0.96
R0064:Clstn1 UTSW 4 149634796 missense probably damaging 0.96
R0193:Clstn1 UTSW 4 149634796 missense probably damaging 0.96
R0279:Clstn1 UTSW 4 149643674 missense probably damaging 1.00
R0394:Clstn1 UTSW 4 149644178 missense probably benign 0.00
R0609:Clstn1 UTSW 4 149629300 splice site probably null
R0685:Clstn1 UTSW 4 149646855 missense probably benign 0.24
R0724:Clstn1 UTSW 4 149643624 missense possibly damaging 0.84
R1016:Clstn1 UTSW 4 149646829 missense probably benign 0.21
R1470:Clstn1 UTSW 4 149634722 missense possibly damaging 0.94
R1470:Clstn1 UTSW 4 149634722 missense possibly damaging 0.94
R1622:Clstn1 UTSW 4 149629407 missense probably damaging 0.97
R1680:Clstn1 UTSW 4 149643726 missense probably benign 0.02
R3803:Clstn1 UTSW 4 149635339 missense probably damaging 0.99
R3836:Clstn1 UTSW 4 149638333 missense probably damaging 1.00
R3838:Clstn1 UTSW 4 149638333 missense probably damaging 1.00
R4923:Clstn1 UTSW 4 149645029 missense probably benign 0.07
R5024:Clstn1 UTSW 4 149635294 missense possibly damaging 0.91
R5919:Clstn1 UTSW 4 149635246 missense probably damaging 1.00
R6269:Clstn1 UTSW 4 149644067 missense probably benign 0.00
R6354:Clstn1 UTSW 4 149643216 missense probably benign 0.05
R6382:Clstn1 UTSW 4 149626120 unclassified probably null
R6573:Clstn1 UTSW 4 149643689 missense probably damaging 1.00
X0020:Clstn1 UTSW 4 149635251 missense probably damaging 1.00
Posted On2013-04-17