Incidental Mutation 'IGL00422:Cln8'
ID6240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cln8
Ensembl Gene ENSMUSG00000026317
Gene Nameceroid-lipofuscinosis, neuronal 8
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.263) question?
Stock #IGL00422
Quality Score
Status
Chromosome8
Chromosomal Location14881335-14901720 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 14896637 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 217 (C217Y)
Ref Sequence ENSEMBL: ENSMUSP00000027554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027554] [ENSMUST00000123990] [ENSMUST00000128839] [ENSMUST00000132001] [ENSMUST00000133578]
Predicted Effect probably benign
Transcript: ENSMUST00000027554
AA Change: C217Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000027554
Gene: ENSMUSG00000026317
AA Change: C217Y

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 62 262 3.4e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123990
SMART Domains Protein: ENSMUSP00000119031
Gene: ENSMUSG00000026317

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Blast:TLC 62 124 6e-38 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000128839
SMART Domains Protein: ENSMUSP00000121618
Gene: ENSMUSG00000026317

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132001
Predicted Effect probably benign
Transcript: ENSMUST00000133578
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 encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit late-onset progressive motor neuron degeneration and retinal photoreceptor degeneration. Mutants accumulate proteolipid in neuronal cytoplasm, have hindlimb weakness and ataxia, and die at 9-14 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,068,186 A359T probably damaging Het
Ajuba A T 14: 54,571,769 Y400* probably null Het
Cckar T A 5: 53,699,829 D342V possibly damaging Het
Cdc123 A G 2: 5,798,449 V253A probably benign Het
Cep162 T C 9: 87,227,167 D461G probably benign Het
Chd7 G A 4: 8,859,106 E2399K probably damaging Het
Dchs1 A G 7: 105,758,029 V2119A possibly damaging Het
Dhx33 T C 11: 71,001,620 S108G probably benign Het
Dip2a T A 10: 76,313,236 M194L probably benign Het
Dnah11 T C 12: 118,068,096 K1779R probably damaging Het
Fads3 T G 19: 10,055,681 F328V possibly damaging Het
Flad1 A G 3: 89,405,853 probably null Het
Gm5346 A G 8: 43,626,351 F279L probably damaging Het
Gm7535 G T 17: 17,911,888 probably benign Het
Gnpat A G 8: 124,885,013 E513G probably damaging Het
H2-M5 A G 17: 36,987,840 I238T probably damaging Het
Hoxd12 G A 2: 74,675,427 R114Q probably damaging Het
Ide T C 19: 37,276,532 I903V unknown Het
Ifi209 T G 1: 173,638,963 D120E possibly damaging Het
Map3k10 T C 7: 27,668,469 D248G probably damaging Het
Mat2b C A 11: 40,687,738 G41C probably damaging Het
Mfsd4a T C 1: 132,040,594 I369V probably benign Het
Myom1 T A 17: 71,126,098 V1480E probably damaging Het
Myom2 A T 8: 15,069,490 D127V probably damaging Het
Olfml2b T A 1: 170,669,066 V422E probably damaging Het
Pkn3 G A 2: 30,081,104 A228T probably damaging Het
Rad17 A T 13: 100,629,525 I365K probably benign Het
Rad17 A T 13: 100,629,523 S366T probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Slco1a6 A C 6: 142,161,017 C15G probably benign Het
Spag9 T A 11: 94,097,866 F571I probably benign Het
Ttc27 T A 17: 74,780,816 C459S probably damaging Het
Washc2 A G 6: 116,256,676 T888A probably benign Het
Zcchc7 A T 4: 44,931,318 H490L possibly damaging Het
Other mutations in Cln8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Cln8 APN 8 14894689 start codon destroyed probably null 0.99
IGL02340:Cln8 APN 8 14895178 missense probably damaging 1.00
IGL03037:Cln8 APN 8 14894679 utr 5 prime probably benign
IGL03213:Cln8 APN 8 14894845 missense probably damaging 1.00
R0544:Cln8 UTSW 8 14896769 missense probably benign 0.32
R4184:Cln8 UTSW 8 14895030 missense probably benign 0.01
R4634:Cln8 UTSW 8 14894842 missense probably damaging 1.00
R4925:Cln8 UTSW 8 14895004 missense possibly damaging 0.81
R5930:Cln8 UTSW 8 14896621 missense probably damaging 1.00
R6185:Cln8 UTSW 8 14896544 missense probably benign 0.02
R7567:Cln8 UTSW 8 14895057 missense probably benign 0.03
R8077:Cln8 UTSW 8 14894950 missense probably damaging 1.00
Posted On2012-04-20