Incidental Mutation 'IGL00719:Cln5'
ID9732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cln5
Ensembl Gene ENSMUSG00000022125
Gene Nameceroid-lipofuscinosis, neuronal 5
SynonymsA730075N08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock #IGL00719
Quality Score
Status
Chromosome14
Chromosomal Location103070216-103077628 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 103076032 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 240 (T240M)
Ref Sequence ENSEMBL: ENSMUSP00000022721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022720] [ENSMUST00000022721]
Predicted Effect probably benign
Transcript: ENSMUST00000022720
SMART Domains Protein: ENSMUSP00000022720
Gene: ENSMUSG00000022124

DomainStartEndE-ValueType
FBOX 39 79 5.92e-7 SMART
low complexity region 235 247 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000022721
AA Change: T240M

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022721
Gene: ENSMUSG00000022125
AA Change: T240M

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:CLN5 34 332 9e-169 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227117
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 one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants showed loss of vision and accumulation of autofluorescent storage material in the central nervous system. Loss of a subset of GABAergic interneurons was seen in several brain areas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Allc C T 12: 28,564,249 E142K probably benign Het
Ddx42 T C 11: 106,235,749 V330A probably damaging Het
Egr1 G A 18: 34,862,494 E110K possibly damaging Het
Fbxw7 A G 3: 84,969,309 probably benign Het
Ftsj3 T C 11: 106,250,179 D674G probably damaging Het
Mboat2 T A 12: 24,939,354 probably benign Het
Mga T A 2: 119,947,453 Y1826* probably null Het
Mipol1 T A 12: 57,307,353 probably benign Het
Pds5b C A 5: 150,722,542 T155N probably benign Het
Plk4 A T 3: 40,801,789 D45V probably damaging Het
Rnf24 C T 2: 131,305,693 V63I possibly damaging Het
Serpinb6b A T 13: 32,971,546 T81S probably benign Het
Sesn1 C T 10: 41,898,325 T291I probably damaging Het
Tenm3 T C 8: 48,279,042 T1276A probably benign Het
Tmbim7 T A 5: 3,679,087 I279N probably damaging Het
Zfp40 T C 17: 23,175,742 T556A probably benign Het
Other mutations in Cln5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02218:Cln5 APN 14 103075840 unclassified probably null
PIT4480001:Cln5 UTSW 14 103071778 nonsense probably null
R0649:Cln5 UTSW 14 103071761 missense probably benign
R2043:Cln5 UTSW 14 103075944 missense probably damaging 1.00
R2313:Cln5 UTSW 14 103071746 nonsense probably null
R3829:Cln5 UTSW 14 103073359 missense probably damaging 0.97
R5486:Cln5 UTSW 14 103076194 missense probably damaging 0.98
R6265:Cln5 UTSW 14 103073227 missense probably damaging 1.00
R6361:Cln5 UTSW 14 103076201 missense probably benign 0.05
R7361:Cln5 UTSW 14 103075903 missense probably damaging 1.00
R7869:Cln5 UTSW 14 103076065 missense probably damaging 1.00
R7952:Cln5 UTSW 14 103076065 missense probably damaging 1.00
Posted On2012-12-06