Incidental Mutation 'R8077:Cln8'
ID 629082
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 067511-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R8077 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 14931335-14951720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14944950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 88 (D88V)
Ref Sequence ENSEMBL: ENSMUSP00000027554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027554] [ENSMUST00000123990] [ENSMUST00000128839] [ENSMUST00000132001] [ENSMUST00000133578]
AlphaFold Q9QUK3
Predicted Effect probably damaging
Transcript: ENSMUST00000027554
AA Change: D88V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027554
Gene: ENSMUSG00000026317
AA Change: D88V

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 62 262 3.4e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123990
AA Change: D88V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119031
Gene: ENSMUSG00000026317
AA Change: D88V

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 0.7773 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.4%
Validation Efficiency 100% (60/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,237 (GRCm39) V132E probably benign Het
4930563M21Rik C T 9: 55,895,250 (GRCm39) V315M probably damaging Het
Aadacl4fm1 T C 4: 144,255,126 (GRCm39) I182T probably benign Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Amotl1 A T 9: 14,461,798 (GRCm39) V805D probably damaging Het
Arhgef3 T C 14: 27,107,881 (GRCm39) L179P probably damaging Het
Atp8b3 G A 10: 80,366,858 (GRCm39) L247F possibly damaging Het
Ccdc191 T C 16: 43,735,968 (GRCm39) probably null Het
Celsr3 A G 9: 108,705,530 (GRCm39) H671R probably benign Het
Cemip C A 7: 83,652,616 (GRCm39) probably benign Het
Cfap97 G T 8: 46,623,482 (GRCm39) V291F possibly damaging Het
Clca3a2 A G 3: 144,777,288 (GRCm39) V861A possibly damaging Het
Col18a1 C A 10: 76,916,685 (GRCm39) G330V unknown Het
Dis3 C T 14: 99,327,471 (GRCm39) R344Q probably benign Het
Esyt2 T A 12: 116,305,848 (GRCm39) S359R possibly damaging Het
Fbxo41 A T 6: 85,450,211 (GRCm39) L844Q probably damaging Het
Fn1 G A 1: 71,651,761 (GRCm39) T1372M probably damaging Het
Gbp5 G A 3: 142,213,500 (GRCm39) R472H probably benign Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gm9507 T A 10: 77,647,604 (GRCm39) E25V unknown Het
Golgb1 A G 16: 36,738,995 (GRCm39) I2486V probably damaging Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Ift80 A G 3: 68,823,478 (GRCm39) Y595H probably benign Het
Itga8 C T 2: 12,247,244 (GRCm39) V326I probably benign Het
Kif14 A T 1: 136,399,186 (GRCm39) H449L possibly damaging Het
Klrh1 A G 6: 129,743,658 (GRCm39) Y209H probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lrrc8b C A 5: 105,627,883 (GRCm39) S76R possibly damaging Het
Lrrn1 T C 6: 107,545,783 (GRCm39) L527P probably damaging Het
Luc7l T C 17: 26,474,047 (GRCm39) V35A probably damaging Het
Luzp1 T G 4: 136,270,402 (GRCm39) V875G probably damaging Het
Mcf2l G T 8: 13,048,494 (GRCm39) probably null Het
Mcoln2 T C 3: 145,896,169 (GRCm39) M497T probably damaging Het
Mrgprb4 A T 7: 47,848,203 (GRCm39) S242T probably benign Het
Muc21 TCAGTGGTGGTCAGGATGGGGGTAGAGCCTGAGCCACTCCTGGATGCAGTGGTGGTCAGG TCAGTGGTGGTCAGG 17: 35,930,628 (GRCm39) probably benign Het
Nipbl T A 15: 8,340,734 (GRCm39) R1995S possibly damaging Het
Nup35 A G 2: 80,469,280 (GRCm39) probably null Het
Or13a17 C T 7: 140,271,046 (GRCm39) S76F probably benign Het
Or2o1 A G 11: 49,051,312 (GRCm39) D157G probably damaging Het
Or6k2 A G 1: 173,979,411 (GRCm39) probably benign Het
Prdm12 A G 2: 31,532,316 (GRCm39) K109E probably damaging Het
Ptch1 A T 13: 63,688,626 (GRCm39) L444Q probably damaging Het
Qtrt1 C T 9: 21,331,392 (GRCm39) R374* probably null Het
Rnase11 T C 14: 51,287,398 (GRCm39) D52G probably damaging Het
Rps6 A G 4: 86,774,158 (GRCm39) S148P probably benign Het
Rrm2b T C 15: 37,947,044 (GRCm39) K86E possibly damaging Het
Sh2d1b2 A G 1: 170,075,742 (GRCm39) K59E possibly damaging Het
Six6 T A 12: 72,987,100 (GRCm39) W91R probably damaging Het
Slc23a2 C A 2: 131,931,092 (GRCm39) A136S possibly damaging Het
Slc9a5 G A 8: 106,086,012 (GRCm39) R593H probably damaging Het
Smbd1 T C 16: 32,630,804 (GRCm39) M1V probably null Het
Ssbp4 T C 8: 71,051,647 (GRCm39) Y239C probably damaging Het
Stox1 T C 10: 62,501,345 (GRCm39) E405G probably damaging Het
Tle7 C T 8: 110,836,735 (GRCm39) T207M probably damaging Het
Tmem192 A G 8: 65,418,196 (GRCm39) I194V probably benign Het
Tns3 A T 11: 8,395,667 (GRCm39) C1246S probably damaging Het
Ugt1a6a A T 1: 88,066,575 (GRCm39) Q127L probably benign Het
Ush2a A G 1: 188,275,025 (GRCm39) I1833V probably benign Het
Vmn2r66 A T 7: 84,656,093 (GRCm39) Y308N probably benign Het
Vti1a T G 19: 55,564,917 (GRCm39) L191R probably benign Het
Zbtb38 A T 9: 96,570,153 (GRCm39) N310K probably benign 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
R4184:Cln8 UTSW 8 14,945,030 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- AAGATTCGGTCGACTCTAGCG -3'
(R):5'- AGCTCTGAGATTGATCGCTG -3'

Sequencing Primer
(F):5'- GTCGACTCTAGCGGTTGC -3'
(R):5'- TGAGATTGATCGCTGAACCC -3'
Posted On 2020-06-30