Incidental Mutation 'IGL01586:Cln6'
ID91799
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 #IGL01586
Quality Score
Status
Chromosome9
Chromosomal Location62838785-62852006 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 62844618 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 41 (H41Q)
Ref Sequence ENSEMBL: ENSMUSP00000034776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034776] [ENSMUST00000141821]
Predicted Effect probably damaging
Transcript: ENSMUST00000034776
AA Change: H41Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034776
Gene: ENSMUSG00000032245
AA Change: H41Q

DomainStartEndE-ValueType
Pfam:CLN6 27 306 1.3e-167 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124984
SMART Domains Protein: ENSMUSP00000115675
Gene: ENSMUSG00000032245

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,128,515 Y144N unknown Het
Abca9 A C 11: 110,154,417 C363W probably damaging Het
Acmsd G A 1: 127,759,710 R243H probably damaging Het
Adam33 T C 2: 131,054,050 T490A probably damaging Het
Ank1 A G 8: 23,120,912 D1411G probably benign Het
Arhgap39 T C 15: 76,730,438 E842G probably benign Het
Asgr2 T C 11: 70,105,367 probably benign Het
Bbs9 T C 9: 22,645,997 V14A possibly damaging Het
Cer1 A G 4: 82,884,843 S81P probably damaging Het
Dock1 A G 7: 134,753,377 D334G probably damaging Het
Dpy19l2 A G 9: 24,666,975 I261T probably benign Het
Fhod3 T G 18: 25,090,747 I1050S probably damaging Het
Gbgt1 T C 2: 28,497,830 V22A probably benign Het
Izumo3 A G 4: 92,146,295 probably null Het
Kif11 T C 19: 37,384,233 probably benign Het
Krt2 C A 15: 101,811,390 G615V unknown Het
Midn A G 10: 80,156,643 probably benign Het
Mier1 C T 4: 103,155,572 T342I probably damaging Het
Mycbp2 A T 14: 103,140,869 probably null Het
Nrp1 A T 8: 128,432,032 S267C possibly damaging Het
Olfr145 A G 9: 37,897,976 T191A possibly damaging Het
Pcdh20 A T 14: 88,470,908 M28K probably benign Het
Prmt5 G A 14: 54,509,951 probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rps6ka5 T C 12: 100,570,914 E519G probably damaging Het
Samm50 T A 15: 84,195,838 I39N probably benign Het
Shc2 A T 10: 79,622,304 M515K probably damaging Het
Sorbs2 T A 8: 45,795,594 F608L probably damaging Het
Sos2 T C 12: 69,607,398 K727E probably damaging Het
Sox13 A T 1: 133,389,444 H150Q possibly damaging Het
Tmem132e T C 11: 82,434,669 V165A probably damaging Het
Trmt11 T C 10: 30,597,751 T43A probably benign Het
Tyrp1 G T 4: 80,844,898 V341L probably benign Het
Ugt2b35 C A 5: 87,011,391 H481Q probably benign Het
Zzz3 T A 3: 152,455,839 I290N possibly damaging Het
Other mutations in Cln6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01601:Cln6 APN 9 62846970 missense probably damaging 0.99
IGL02351:Cln6 APN 9 62847125 missense probably benign 0.01
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
R7920:Cln6 UTSW 9 62849048 missense
Posted On2013-12-09