Incidental Mutation 'IGL03037:Cln8'
ID 408758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cln8
Ensembl Gene ENSMUSG00000026317
Gene Name CLN8 transmembrane ER and ERGIC protein
Synonyms Tlcd6, ceroid-lipofuscinosis, neuronal 8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # IGL03037
Quality Score
Status
Chromosome 8
Chromosomal Location 14931335-14951720 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to T at 14944679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027554] [ENSMUST00000123990] [ENSMUST00000128839] [ENSMUST00000132001] [ENSMUST00000133578]
AlphaFold Q9QUK3
Predicted Effect probably benign
Transcript: ENSMUST00000027554
SMART Domains Protein: ENSMUSP00000027554
Gene: ENSMUSG00000026317

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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,807,294 (GRCm39) L539P probably damaging Het
Adam23 A T 1: 63,610,176 (GRCm39) Q726L possibly damaging Het
Ago1 T C 4: 126,355,587 (GRCm39) E74G probably benign Het
Atp6v1d C A 12: 78,904,122 (GRCm39) probably benign Het
Bltp1 C A 3: 37,023,356 (GRCm39) S2227R probably benign Het
Bltp1 T C 3: 37,023,357 (GRCm39) S2229P probably damaging Het
Cadm4 T A 7: 24,200,220 (GRCm39) L243Q probably damaging Het
Camsap2 C A 1: 136,202,595 (GRCm39) L1274F probably damaging Het
Car10 A G 11: 92,991,044 (GRCm39) probably benign Het
Catsperd A T 17: 56,948,583 (GRCm39) D186V possibly damaging Het
Cdc42bpg A G 19: 6,361,230 (GRCm39) Y285C probably damaging Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cripto C A 9: 110,772,288 (GRCm39) W36L probably benign Het
Ddx5 T C 11: 106,672,930 (GRCm39) N532D possibly damaging Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Dock8 A G 19: 25,063,545 (GRCm39) E249G probably benign Het
Espnl T C 1: 91,269,643 (GRCm39) V393A probably benign Het
Fhip1b A T 7: 105,028,293 (GRCm39) H885Q probably benign Het
Frrs1 T C 3: 116,696,116 (GRCm39) probably benign Het
Fstl4 C A 11: 53,059,050 (GRCm39) A503D possibly damaging Het
Gda T A 19: 21,411,673 (GRCm39) I42L possibly damaging Het
Gprc5d C A 6: 135,093,319 (GRCm39) C196F probably damaging Het
Hnrnpa0 A G 13: 58,275,767 (GRCm39) F121L probably damaging Het
Hsd3b7 C T 7: 127,400,322 (GRCm39) H24Y probably damaging Het
Ift140 T C 17: 25,311,368 (GRCm39) S1188P probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mcemp1 C A 8: 3,717,055 (GRCm39) Y65* probably null Het
Mmp16 C T 4: 17,996,222 (GRCm39) P104S probably damaging Het
Mpst C A 15: 78,294,798 (GRCm39) R177S probably benign Het
Nek1 A T 8: 61,487,086 (GRCm39) T279S probably benign Het
Or1q1 C T 2: 36,887,560 (GRCm39) T246I probably benign Het
Or1x2 A T 11: 50,918,117 (GRCm39) Y96F probably damaging Het
Or4c11b A G 2: 88,625,299 (GRCm39) Y191C probably damaging Het
Or7g18 T A 9: 18,786,668 (GRCm39) I12N probably damaging Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pik3r4 A G 9: 105,528,012 (GRCm39) D455G probably damaging Het
Piwil4 T C 9: 14,616,308 (GRCm39) I756V possibly damaging Het
Pkhd1 A G 1: 20,592,923 (GRCm39) L1730P probably benign Het
Pnpla3 T C 15: 84,056,960 (GRCm39) I155T probably damaging Het
Prmt8 T C 6: 127,680,940 (GRCm39) Y243C possibly damaging Het
Rbfox1 T A 16: 7,110,147 (GRCm39) probably benign Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Scaf8 A G 17: 3,240,496 (GRCm39) K623E probably damaging Het
Slc26a4 A T 12: 31,581,686 (GRCm39) probably benign Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Smarca4 T C 9: 21,544,231 (GRCm39) probably benign Het
Sos1 T C 17: 80,727,758 (GRCm39) D775G probably damaging Het
Spag17 G A 3: 99,979,486 (GRCm39) probably null Het
Spata31d1d T A 13: 59,873,947 (GRCm39) E1196V possibly damaging Het
Sqle T A 15: 59,193,246 (GRCm39) Y208N probably damaging Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tenm3 A G 8: 48,751,913 (GRCm39) F959L possibly damaging Het
Tnfrsf19 T A 14: 61,261,721 (GRCm39) K26I possibly damaging Het
Trappc10 A T 10: 78,034,869 (GRCm39) probably benign Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Trpm3 A G 19: 22,866,776 (GRCm39) T536A possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Uaca A G 9: 60,748,147 (GRCm39) D37G probably damaging Het
Ube3a T C 7: 58,896,971 (GRCm39) probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Ugp2 T A 11: 21,282,540 (GRCm39) K151* probably null Het
Wasf1 A G 10: 40,806,654 (GRCm39) K99R probably benign Het
Wnt4 C T 4: 137,016,472 (GRCm39) T42M possibly damaging Het
Zfp54 T A 17: 21,650,477 (GRCm39) D17E 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
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
R8077:Cln8 UTSW 8 14,944,950 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02