Incidental Mutation 'R7567:Cln8'
ID 585517
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 045629-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R7567 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 14931335-14951720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14945057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 124 (S124P)
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: S124P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000027554
Gene: ENSMUSG00000026317
AA Change: S124P

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 62 262 3.4e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123990
AA Change: S124P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000119031
Gene: ENSMUSG00000026317
AA Change: S124P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A T 17: 9,226,838 (GRCm39) Q464H probably damaging Het
Abcc5 A T 16: 20,224,260 (GRCm39) S108T probably damaging Het
Acss3 T C 10: 106,959,174 (GRCm39) S91G probably benign Het
Adgrf4 T A 17: 42,978,333 (GRCm39) I337L probably benign Het
Adgrv1 A G 13: 81,581,648 (GRCm39) S4799P probably benign Het
Adgrv1 T C 13: 81,727,596 (GRCm39) D348G probably damaging Het
Afdn A G 17: 14,109,070 (GRCm39) D1546G probably benign Het
Agr2 A T 12: 36,045,946 (GRCm39) R64S probably benign Het
Ankrd13a T A 5: 114,927,545 (GRCm39) probably null Het
Apon T A 10: 128,090,922 (GRCm39) M200K possibly damaging Het
Art4 T C 6: 136,831,428 (GRCm39) S238G possibly damaging Het
Atp2a2 A T 5: 122,629,847 (GRCm39) V74D probably benign Het
Atrnl1 T C 19: 57,687,955 (GRCm39) S807P probably damaging Het
C2cd3 T C 7: 100,080,022 (GRCm39) V936A Het
Car15 T A 16: 17,654,652 (GRCm39) H122L probably damaging Het
Cav3 A T 6: 112,449,428 (GRCm39) R149W probably benign Het
Ccdc8 A T 7: 16,728,687 (GRCm39) I59F probably damaging Het
Ccng2 G A 5: 93,418,731 (GRCm39) V119I probably benign Het
Ceacam2 A G 7: 25,227,333 (GRCm39) I178T probably benign Het
Ces2a A G 8: 105,467,930 (GRCm39) D520G probably benign Het
Coro2a T A 4: 46,546,674 (GRCm39) D227V probably damaging Het
Cpa4 A C 6: 30,573,889 (GRCm39) R32S probably benign Het
Creb3l4 G T 3: 90,149,729 (GRCm39) D45E probably benign Het
Crybb2 C T 5: 113,213,759 (GRCm39) probably null Het
Cul7 T A 17: 46,965,521 (GRCm39) H566Q probably benign Het
Cyp2b10 A G 7: 25,614,204 (GRCm39) Y226C probably damaging Het
Dennd2a A T 6: 39,499,743 (GRCm39) V274D probably benign Het
Dmbt1 G A 7: 130,663,093 (GRCm39) probably null Het
Drc7 T C 8: 95,794,684 (GRCm39) I363T probably benign Het
Drd3 G A 16: 43,643,047 (GRCm39) V396I probably benign Het
Dync2i1 A T 12: 116,218,130 (GRCm39) probably null Het
Eif2ak4 A G 2: 118,280,795 (GRCm39) N1054S probably benign Het
Epc1 A C 18: 6,450,084 (GRCm39) V458G probably damaging Het
Exoc1 T A 5: 76,685,562 (GRCm39) D91E probably damaging Het
Fat4 T A 3: 38,943,485 (GRCm39) F793I probably damaging Het
Fhod1 T C 8: 106,074,469 (GRCm39) E6G unknown Het
Galnt16 G A 12: 80,628,084 (GRCm39) probably null Het
Ganc A T 2: 120,286,582 (GRCm39) T804S probably benign Het
Gpam A T 19: 55,070,062 (GRCm39) V398E possibly damaging Het
Gpr68 A G 12: 100,844,623 (GRCm39) V307A probably benign Het
Grm7 C T 6: 111,335,722 (GRCm39) S711L probably damaging Het
Hemgn T A 4: 46,397,034 (GRCm39) R67S probably damaging Het
Hmg20b T C 10: 81,182,493 (GRCm39) D281G possibly damaging Het
Ifi211 A C 1: 173,729,401 (GRCm39) F277V probably damaging Het
Ighmbp2 T C 19: 3,322,981 (GRCm39) I322V probably benign Het
Iqce A T 5: 140,671,830 (GRCm39) L265H probably damaging Het
Itgal G T 7: 126,898,960 (GRCm39) A101S probably benign Het
Kif5a C T 10: 127,073,248 (GRCm39) M647I probably benign Het
Kirrel1 G T 3: 87,002,988 (GRCm39) T135K probably damaging Het
Klf16 T C 10: 80,412,622 (GRCm39) Y138C probably benign Het
Klhl7 A G 5: 24,331,844 (GRCm39) T49A probably benign Het
Mr1 T C 1: 155,022,474 (GRCm39) probably benign Het
Mrc1 A T 2: 14,330,104 (GRCm39) I1238F probably damaging Het
Ncoa5 C T 2: 164,846,171 (GRCm39) M225I possibly damaging Het
Nf1 A T 11: 79,438,052 (GRCm39) T121S probably damaging Het
Ngfr T C 11: 95,465,147 (GRCm39) T234A probably benign Het
Ninj1 T G 13: 49,347,356 (GRCm39) F74V probably damaging Het
Npffr1 T C 10: 61,462,088 (GRCm39) V408A probably benign Het
Nsd2 T C 5: 34,003,570 (GRCm39) V240A probably damaging Het
Obi1 T C 14: 104,716,814 (GRCm39) T520A probably damaging Het
Or12d13 T A 17: 37,648,062 (GRCm39) E20D probably benign Het
Or2z2 A G 11: 58,345,992 (GRCm39) M261T probably damaging Het
Or7a35 T A 10: 78,853,379 (GRCm39) F74L probably benign Het
Or8b44 G A 9: 38,410,369 (GRCm39) V135I probably benign Het
Or8g34 T C 9: 39,373,173 (GRCm39) S146P possibly damaging Het
Ovol1 T C 19: 5,601,614 (GRCm39) H136R probably damaging Het
Prag1 T A 8: 36,569,760 (GRCm39) D114E possibly damaging Het
Pramel17 T C 4: 101,694,331 (GRCm39) N184S probably benign Het
Prss3b C A 6: 41,010,127 (GRCm39) R69L probably benign Het
Prss57 T A 10: 79,623,234 (GRCm39) H71L probably benign Het
Ptgs2 T C 1: 149,978,448 (GRCm39) F187L probably damaging Het
Ptprz1 A T 6: 22,959,779 (GRCm39) N92I probably damaging Het
Rab23 A T 1: 33,773,812 (GRCm39) T91S possibly damaging Het
Rag1 A G 2: 101,474,006 (GRCm39) S379P probably damaging Het
Ribc2 G T 15: 85,027,448 (GRCm39) D310Y probably damaging Het
Rims1 A G 1: 22,507,291 (GRCm39) Y620H probably damaging Het
Rock1 A C 18: 10,090,820 (GRCm39) V938G probably benign Het
Rsph10b A G 5: 143,886,244 (GRCm39) N314S possibly damaging Het
Sertad1 A G 7: 27,189,327 (GRCm39) D216G possibly damaging Het
Shisal1 G A 15: 84,290,914 (GRCm39) T131M probably benign Het
Slco6d1 T A 1: 98,425,252 (GRCm39) V600D probably damaging Het
Snapc2 T C 8: 4,305,314 (GRCm39) I232T probably damaging Het
Snx13 A G 12: 35,136,913 (GRCm39) S125G probably damaging Het
Srcin1 C T 11: 97,425,551 (GRCm39) R502H probably damaging Het
Tesmin A G 19: 3,442,218 (GRCm39) E167G possibly damaging Het
Tex10 T C 4: 48,468,787 (GRCm39) I129M possibly damaging Het
Tmem235 A G 11: 117,754,967 (GRCm39) S140G probably benign Het
Trim60 T A 8: 65,454,177 (GRCm39) D24V probably damaging Het
Ttc39c A G 18: 12,822,936 (GRCm39) E148G probably benign Het
Vmn2r70 G T 7: 85,214,243 (GRCm39) T303K probably benign Het
Wdr48 A T 9: 119,745,894 (GRCm39) T426S possibly damaging Het
Xirp2 A T 2: 67,346,326 (GRCm39) T2856S probably benign Het
Zswim8 A G 14: 20,770,001 (GRCm39) N1356S 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
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
R8077:Cln8 UTSW 8 14,944,950 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATCGTCCCTGAATGCCAC -3'
(R):5'- TTCAGGAGCATCCAGGAAATG -3'

Sequencing Primer
(F):5'- AAGGTCTTCTGGAACCTGGC -3'
(R):5'- GCATCCAGGAAATGCAGGTG -3'
Posted On 2019-10-17