Incidental Mutation 'R0544:Cln8'
ID 44690
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 038736-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R0544 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 14931335-14951720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14946769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 261 (V261E)
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: V261E

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027554
Gene: ENSMUSG00000026317
AA Change: V261E

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
Meta Mutation Damage Score 0.2436 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (97/99)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,394,763 (GRCm39) F130L probably benign Het
Aatf C T 11: 84,313,831 (GRCm39) R511Q probably benign Het
Acot12 A T 13: 91,932,775 (GRCm39) D516V probably benign Het
Adgrb2 T C 4: 129,911,335 (GRCm39) V1207A probably damaging Het
Akap9 A G 5: 4,119,185 (GRCm39) D3564G probably benign Het
Arl8b C T 6: 108,760,189 (GRCm39) probably benign Het
Atf6b T C 17: 34,867,273 (GRCm39) probably null Het
Atrn G A 2: 130,828,746 (GRCm39) G1097D probably damaging Het
Btbd6 A G 12: 112,940,702 (GRCm39) E61G probably damaging Het
Car15 A G 16: 17,653,680 (GRCm39) probably benign Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Carmil2 C T 8: 106,417,867 (GRCm39) A654V probably damaging Het
Ccdc88b A G 19: 6,834,634 (GRCm39) L124P probably damaging Het
Ccnd1 A G 7: 144,491,023 (GRCm39) probably benign Het
Cenph A G 13: 100,909,249 (GRCm39) S53P probably damaging Het
Chrm3 T A 13: 9,927,615 (GRCm39) I474F probably damaging Het
Coa6 A G 8: 127,149,499 (GRCm39) D25G probably benign Het
Col4a1 T G 8: 11,276,487 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,235,055 (GRCm39) H588R probably damaging Het
Cul7 T C 17: 46,974,470 (GRCm39) L1516P possibly damaging Het
Dcdc5 A G 2: 106,181,909 (GRCm39) noncoding transcript Het
Ddx5 T C 11: 106,673,288 (GRCm39) probably benign Het
Dhx16 C A 17: 36,192,551 (GRCm39) P161Q probably benign Het
Dpy19l1 A T 9: 24,396,406 (GRCm39) probably benign Het
Fastkd5 A G 2: 130,457,216 (GRCm39) V458A probably damaging Het
Fhit A G 14: 9,870,172 (GRCm38) V99A probably damaging Het
Fndc3a A T 14: 72,795,062 (GRCm39) probably benign Het
Foxd4 A T 19: 24,877,182 (GRCm39) S339R possibly damaging Het
Gm10842 T A 11: 105,037,880 (GRCm39) D54E unknown Het
Gns T A 10: 121,212,172 (GRCm39) Y94* probably null Het
Gp2 A G 7: 119,053,719 (GRCm39) W81R probably benign Het
Hdac5 T G 11: 102,086,922 (GRCm39) Q46P probably damaging Het
Homer2 A C 7: 81,299,426 (GRCm39) V13G probably damaging Het
Irs3 A G 5: 137,642,101 (GRCm39) S446P probably benign Het
Ism2 G T 12: 87,332,113 (GRCm39) D141E probably damaging Het
Jak1 T A 4: 101,048,822 (GRCm39) M19L probably benign Het
Kcnd3 C A 3: 105,566,075 (GRCm39) R419S probably damaging Het
Lamb1 T C 12: 31,332,694 (GRCm39) F272S probably damaging Het
Ldlrad2 T G 4: 137,299,579 (GRCm39) T82P possibly damaging Het
Lrp2 T C 2: 69,322,275 (GRCm39) K1885E probably benign Het
Mbd5 T C 2: 49,147,221 (GRCm39) V477A possibly damaging Het
Mrps33 A T 6: 39,782,488 (GRCm39) M11K possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myom2 T A 8: 15,119,796 (GRCm39) V184E probably damaging Het
Ncor1 C A 11: 62,224,602 (GRCm39) G1210V probably damaging Het
Ncor1 C T 11: 62,224,603 (GRCm39) G1210R probably damaging Het
Nlrp4a A G 7: 26,156,555 (GRCm39) D760G probably benign Het
Noc4l A G 5: 110,798,989 (GRCm39) V231A possibly damaging Het
Or2at1 T C 7: 99,416,867 (GRCm39) I166T probably benign Het
Or4c112 T C 2: 88,854,170 (GRCm39) Y59C probably damaging Het
Or4f14 A T 2: 111,742,905 (GRCm39) Y123* probably null Het
Or4n4b A T 14: 50,536,139 (GRCm39) V209E probably benign Het
Or52ab7 T A 7: 102,977,858 (GRCm39) I55N probably damaging Het
Or5b98 A G 19: 12,931,066 (GRCm39) T38A possibly damaging Het
Or5h25 T A 16: 58,930,588 (GRCm39) K128N probably benign Het
Or8k23 T C 2: 86,186,007 (GRCm39) T240A probably damaging Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Patj T A 4: 98,457,347 (GRCm39) M1283K probably damaging Het
Pkd1 C T 17: 24,804,657 (GRCm39) T790I probably damaging Het
Plod3 C A 5: 137,020,465 (GRCm39) T526K probably benign Het
Plxnb2 C A 15: 89,042,816 (GRCm39) probably benign Het
Polr1g G T 7: 19,093,066 (GRCm39) P38Q probably damaging Het
Pramel1 T A 4: 143,124,175 (GRCm39) D283E possibly damaging Het
Prpf40a T C 2: 53,031,663 (GRCm39) probably benign Het
Psg23 A T 7: 18,348,607 (GRCm39) Y67N probably damaging Het
Rftn1 T A 17: 50,301,289 (GRCm39) Q242L possibly damaging Het
Rp1l1 A T 14: 64,269,515 (GRCm39) E1700D probably benign Het
Scube3 T C 17: 28,383,127 (GRCm39) F435S probably damaging Het
Sdk2 T C 11: 113,671,836 (GRCm39) Y2104C probably damaging Het
Septin11 A G 5: 93,313,227 (GRCm39) E358G possibly damaging Het
Sh3bp1 T C 15: 78,789,975 (GRCm39) L246P probably damaging Het
Sis T C 3: 72,858,975 (GRCm39) Y352C probably damaging Het
Skint1 T C 4: 111,878,562 (GRCm39) S165P probably damaging Het
Skint10 C T 4: 112,586,008 (GRCm39) probably benign Het
Slc1a2 A T 2: 102,586,417 (GRCm39) R340S probably damaging Het
Slc26a3 C A 12: 31,497,739 (GRCm39) Q48K probably benign Het
Slc5a2 A T 7: 127,869,171 (GRCm39) Y317F probably damaging Het
Sorbs3 T A 14: 70,431,375 (GRCm39) T262S probably benign Het
Tas2r118 G T 6: 23,969,400 (GRCm39) S220R probably damaging Het
Terf2ip C A 8: 112,741,974 (GRCm39) Q223K possibly damaging Het
Tespa1 A G 10: 130,196,680 (GRCm39) Q206R probably damaging Het
Tex10 T C 4: 48,462,766 (GRCm39) probably null Het
Tle1 T A 4: 72,043,227 (GRCm39) K547N probably damaging Het
Tmem131l T A 3: 83,805,853 (GRCm39) Q1530L probably damaging Het
Tomm20l A G 12: 71,169,851 (GRCm39) E145G possibly damaging Het
Tra2a C T 6: 49,227,885 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trim37 T A 11: 87,036,328 (GRCm39) Y121* probably null Het
Tube1 C T 10: 39,016,941 (GRCm39) probably null Het
Usp6nl T A 2: 6,425,820 (GRCm39) V187D probably damaging Het
Vmn1r13 T C 6: 57,187,248 (GRCm39) F136L probably benign Het
Vmn1r201 A T 13: 22,659,316 (GRCm39) I177F probably benign Het
Vmn1r203 A T 13: 22,708,443 (GRCm39) T75S possibly damaging Het
Vmn1r225 C T 17: 20,722,718 (GRCm39) S53L probably benign Het
Xab2 A T 8: 3,660,994 (GRCm39) W707R probably damaging Het
Zfp808 T C 13: 62,317,248 (GRCm39) probably benign Het
Zng1 A G 19: 24,926,575 (GRCm39) Y159H possibly 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
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
R8077:Cln8 UTSW 8 14,944,950 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCCAACCAGTGGCTAATGATCC -3'
(R):5'- ATGGCAAAGACCTCTTCCAGGCAC -3'

Sequencing Primer
(F):5'- CAGTGGCTAATGATCCACATGTTTC -3'
(R):5'- CCAGCAATACTTCATGGGTACTTTAG -3'
Posted On 2013-06-11