Incidental Mutation 'R4184:Cln8'
ID 319869
Institutional Source Beutler Lab
Gene Symbol Cln8
Ensembl Gene ENSMUSG00000026317
Gene Name CLN8 transmembrane ER and ERGIC protein
Synonyms Tlcd6, ceroid-lipofuscinosis, neuronal 8
MMRRC Submission 041020-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R4184 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 14931335-14951720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14945030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 115 (F115L)
Ref Sequence ENSEMBL: ENSMUSP00000027554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027554] [ENSMUST00000123990] [ENSMUST00000128839] [ENSMUST00000132001] [ENSMUST00000133578]
AlphaFold Q9QUK3
Predicted Effect probably benign
Transcript: ENSMUST00000027554
AA Change: F115L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000027554
Gene: ENSMUSG00000026317
AA Change: F115L

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 62 262 3.4e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123990
AA Change: F115L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000119031
Gene: ENSMUSG00000026317
AA Change: F115L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 95% (55/58)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 A T 7: 143,447,858 (GRCm39) K234* probably null Het
Ccdc178 A G 18: 22,157,841 (GRCm39) L539P probably damaging Het
Cd5 T A 19: 10,698,638 (GRCm39) N423I probably damaging Het
Ceacam20 C T 7: 19,710,041 (GRCm39) T355I probably damaging Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cpne9 T A 6: 113,259,418 (GRCm39) probably benign Het
Cyp4a32 C T 4: 115,478,720 (GRCm39) T484I possibly damaging Het
Des C G 1: 75,339,228 (GRCm39) A251G probably benign Het
Dnah3 T C 7: 119,682,516 (GRCm39) D270G probably damaging Het
Epc1 T C 18: 6,453,578 (GRCm39) E249G possibly damaging Het
Fsbp T A 4: 11,584,058 (GRCm39) N252K probably benign Het
Gramd1a C A 7: 30,831,940 (GRCm39) probably benign Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
Igsf10 C T 3: 59,227,152 (GRCm39) V2174M probably damaging Het
Kcnu1 T C 8: 26,352,445 (GRCm39) L204P probably damaging Het
Kdm7a T C 6: 39,125,911 (GRCm39) E628G probably benign Het
Klhl36 T C 8: 120,601,124 (GRCm39) M381T probably damaging Het
Kpna3 A T 14: 61,605,624 (GRCm39) Y474N probably damaging Het
Lsm8 G T 6: 18,849,604 (GRCm39) probably benign Het
Mapk8 T C 14: 33,104,177 (GRCm39) D413G probably damaging Het
Mbd2 T A 18: 70,751,050 (GRCm39) C362S probably damaging Het
Mex3b A G 7: 82,519,238 (GRCm39) R518G probably benign Het
Mical1 T C 10: 41,357,866 (GRCm39) probably benign Het
Myo18a T C 11: 77,748,613 (GRCm39) S1996P probably damaging Het
Or11g7 A G 14: 50,690,827 (GRCm39) Y106C probably damaging Het
Or11h4b C G 14: 50,918,507 (GRCm39) E195Q probably benign Het
Or1o2 T G 17: 37,542,739 (GRCm39) H174P possibly damaging Het
Otop2 T A 11: 115,220,671 (GRCm39) C504S probably benign Het
Pkhd1 T A 1: 20,279,501 (GRCm39) H2939L probably benign Het
Pkhd1 C T 1: 20,633,910 (GRCm39) V542M probably benign Het
Pkhd1l1 C T 15: 44,455,302 (GRCm39) T4021I probably benign Het
Prr36 T C 8: 4,263,409 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,813,650 (GRCm39) Y517F probably damaging Het
Pth1r A G 9: 110,571,300 (GRCm39) M1T probably null Het
Rdx C A 9: 51,978,680 (GRCm39) L163M probably damaging Het
Reep6 A G 10: 80,169,648 (GRCm39) Y112C probably damaging Het
Rpp21 A G 17: 36,568,611 (GRCm39) probably benign Het
Sacs T A 14: 61,451,393 (GRCm39) C4480S probably damaging Het
Slc15a1 G A 14: 121,703,574 (GRCm39) T512I probably benign Het
Slc22a22 A T 15: 57,119,962 (GRCm39) C170* probably null Het
Slc26a2 C T 18: 61,331,904 (GRCm39) R509K probably benign Het
Slc4a10 A G 2: 62,147,786 (GRCm39) probably benign Het
Stc1 A T 14: 69,266,834 (GRCm39) probably benign Het
Tbc1d32 T A 10: 56,100,676 (GRCm39) T101S probably benign Het
Tsc2 T C 17: 24,850,990 (GRCm39) T23A probably benign Het
Vmn1r52 T G 6: 90,156,219 (GRCm39) F174L probably benign Het
Zfp972 G A 2: 177,563,250 (GRCm39) Q56* probably null Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign Het
Zfpl1 A G 19: 6,131,170 (GRCm39) L274P probably damaging Het
Other mutations in Cln8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Cln8 APN 8 14,946,637 (GRCm39) missense probably benign 0.00
IGL00791:Cln8 APN 8 14,944,689 (GRCm39) start codon destroyed probably null 0.99
IGL02340:Cln8 APN 8 14,945,178 (GRCm39) missense probably damaging 1.00
IGL03037:Cln8 APN 8 14,944,679 (GRCm39) utr 5 prime probably benign
IGL03213:Cln8 APN 8 14,944,845 (GRCm39) missense probably damaging 1.00
R0544:Cln8 UTSW 8 14,946,769 (GRCm39) missense probably benign 0.32
R4634:Cln8 UTSW 8 14,944,842 (GRCm39) missense probably damaging 1.00
R4925:Cln8 UTSW 8 14,945,004 (GRCm39) missense possibly damaging 0.81
R5930:Cln8 UTSW 8 14,946,621 (GRCm39) missense probably damaging 1.00
R6185:Cln8 UTSW 8 14,946,544 (GRCm39) missense probably benign 0.02
R7567:Cln8 UTSW 8 14,945,057 (GRCm39) missense probably benign 0.03
R8077:Cln8 UTSW 8 14,944,950 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTTTGTAGTCTGCCATCAGC -3'
(R):5'- AAGGGCGTGCTCATCTCTAG -3'

Sequencing Primer
(F):5'- ATCGTCCCTGAATGCCAC -3'
(R):5'- TCATCTCTAGGAGCAACGTGGTC -3'
Posted On 2015-06-10