Incidental Mutation 'IGL02351:Cln6'
ID289461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cln6
Ensembl Gene ENSMUSG00000032245
Gene Nameceroid-lipofuscinosis, neuronal 6
SynonymsD9Bwg1455e, 1810065L06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02351
Quality Score
Status
Chromosome9
Chromosomal Location62838785-62852006 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62847125 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 150 (I150V)
Ref Sequence ENSEMBL: ENSMUSP00000034776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034776] [ENSMUST00000141821]
Predicted Effect probably benign
Transcript: ENSMUST00000034776
AA Change: I150V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000034776
Gene: ENSMUSG00000032245
AA Change: I150V

DomainStartEndE-ValueType
Pfam:CLN6 27 306 1.3e-167 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000124984
AA Change: I31V
SMART Domains Protein: ENSMUSP00000115675
Gene: ENSMUSG00000032245
AA Change: I31V

DomainStartEndE-ValueType
Pfam:CLN6 1 64 1.3e-34 PFAM
Pfam:CLN6 68 189 2.7e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132250
Predicted Effect probably benign
Transcript: ENSMUST00000138276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139570
Predicted Effect probably benign
Transcript: ENSMUST00000141821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156423
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 is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants have progressive retinal atrophy, limb paralysis, and seizures that lead to early death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,654,055 T448A possibly damaging Het
Adamtsl1 T A 4: 86,156,873 probably null Het
Adgra3 A G 5: 50,058,558 V73A probably benign Het
Aggf1 T C 13: 95,352,850 probably benign Het
Aktip C T 8: 91,126,892 V96I possibly damaging Het
Atm A G 9: 53,522,176 I258T probably benign Het
Baz1b C T 5: 135,244,306 T1428I probably damaging Het
C3ar1 A T 6: 122,849,975 Y428N probably damaging Het
C87499 A T 4: 88,627,890 I405N probably damaging Het
Cadps A G 14: 12,597,380 S437P probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cbwd1 A T 19: 24,931,662 probably null Het
Cenpq A G 17: 40,924,332 L213P probably damaging Het
Cept1 A G 3: 106,539,188 probably null Het
Cyb5r3 T C 15: 83,160,935 T94A probably benign Het
Cyp2c67 A G 19: 39,617,417 M345T probably damaging Het
Dapk2 T A 9: 66,246,523 I187N probably damaging Het
Dkk2 A G 3: 132,177,912 D191G probably benign Het
Dnah8 T A 17: 30,767,811 F3145I probably damaging Het
Dock1 A C 7: 135,108,819 D1190A possibly damaging Het
Ehhadh T A 16: 21,762,870 L457F probably damaging Het
Ercc6l2 T C 13: 63,853,683 L552P probably damaging Het
Ghrhr T G 6: 55,384,153 I284S probably damaging Het
Gm10288 A T 3: 146,839,199 noncoding transcript Het
Gp6 T G 7: 4,394,508 I19L probably benign Het
Gria4 G A 9: 4,456,206 S698L possibly damaging Het
Ifng A T 10: 118,442,505 I53F possibly damaging Het
Kazn A C 4: 142,147,016 probably null Het
Khk A T 5: 30,928,504 I136F probably damaging Het
Lnx1 T A 5: 74,627,366 N98Y probably damaging Het
Lsp1 T C 7: 142,488,942 probably null Het
Lta4h A T 10: 93,478,467 N467I probably benign Het
Mcmbp C A 7: 128,709,781 probably null Het
Me2 A T 18: 73,797,967 I85K probably benign Het
Muc4 C T 16: 32,750,986 T288I possibly damaging Het
Nadsyn1 A T 7: 143,799,912 Y525N probably damaging Het
Nt5e G A 9: 88,327,893 V70M probably damaging Het
Olfr677 G A 7: 105,056,975 G243D probably damaging Het
Olfr827 T G 10: 130,210,734 Y132S probably damaging Het
Olfr883 A T 9: 38,026,036 I77L possibly damaging Het
Pkd1l3 A G 8: 109,646,497 probably benign Het
Ppm1d A T 11: 85,345,715 E440V probably damaging Het
Ripor2 A T 13: 24,731,589 E1047D probably damaging Het
Rwdd2b G A 16: 87,437,448 A18V probably benign Het
Serpina5 G T 12: 104,102,125 K148N probably damaging Het
Setx A G 2: 29,146,964 K1154E probably benign Het
Skap1 T A 11: 96,708,556 probably null Het
Spcs2 T C 7: 99,849,034 K81R probably damaging Het
Stt3b T A 9: 115,250,907 M646L possibly damaging Het
Suco T C 1: 161,818,626 T1169A probably benign Het
Susd1 A T 4: 59,427,985 Y66* probably null Het
Trim34a T A 7: 104,261,234 C414* probably null Het
Trim58 G A 11: 58,651,350 G379S probably damaging Het
Vmn2r50 T A 7: 10,053,075 Q35L probably benign Het
Zfp418 T C 7: 7,174,691 probably benign Het
Zfp57 G A 17: 37,010,027 V258I probably benign Het
Other mutations in Cln6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01586:Cln6 APN 9 62844618 missense probably damaging 0.98
IGL01601:Cln6 APN 9 62846970 missense probably damaging 0.99
IGL02358:Cln6 APN 9 62847125 missense probably benign 0.01
boost UTSW 9 62847093 missense probably damaging 1.00
R1113:Cln6 UTSW 9 62850861 missense probably damaging 1.00
R1308:Cln6 UTSW 9 62850861 missense probably damaging 1.00
R3690:Cln6 UTSW 9 62846970 missense possibly damaging 0.87
R3746:Cln6 UTSW 9 62847002 missense probably benign
R3898:Cln6 UTSW 9 62850652 missense probably damaging 1.00
R4576:Cln6 UTSW 9 62838949 missense probably benign 0.35
R4996:Cln6 UTSW 9 62850655 missense probably damaging 0.98
R5027:Cln6 UTSW 9 62847093 missense probably damaging 1.00
R6048:Cln6 UTSW 9 62844626 missense probably damaging 1.00
R7348:Cln6 UTSW 9 62849176 missense probably benign 0.14
R7450:Cln6 UTSW 9 62850630 missense probably damaging 1.00
R7565:Cln6 UTSW 9 62850757 missense possibly damaging 0.86
R7837:Cln6 UTSW 9 62849048 missense
R7982:Cln6 UTSW 9 62849168 missense possibly damaging 0.69
Posted On2015-04-16