Incidental Mutation 'IGL00334:Clcn6'
ID332308
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clcn6
Ensembl Gene ENSMUSG00000029016
Gene Namechloride channel, voltage-sensitive 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #IGL00334
Quality Score
Status
Chromosome4
Chromosomal Location148004259-148038821 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 148017902 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030879] [ENSMUST00000105711] [ENSMUST00000137724]
Predicted Effect probably null
Transcript: ENSMUST00000030879
SMART Domains Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
Pfam:Voltage_CLC 138 571 5.5e-98 PFAM
CBS 609 658 1.68e-3 SMART
CBS 811 859 1.34e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105711
SMART Domains Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
Pfam:Voltage_CLC 141 574 1.5e-98 PFAM
CBS 612 661 1.68e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000137724
SMART Domains Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
Pfam:Voltage_CLC 141 574 1.9e-101 PFAM
CBS 612 661 1.68e-3 SMART
CBS 814 862 1.34e-11 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the ClC chloride channel and transporter family of proteins. The encoded protein may function as a vesicular Cl-/H+ antiporter. Homozygous knockout mice exhibit decreased pain sensitivity, behavioral abnormalities and features of lysosomal storage disease. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired nociception, mild behavioral abnormalities, and a progressive neuropathy of the central and peripheral nervous systems with features of neuronal ceroid lipofuscinosis (a lysosomal storage disease). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,269,574 L620I possibly damaging Het
Arsb T G 13: 93,939,279 H423Q probably benign Het
Ces1f T C 8: 93,267,992 T264A probably benign Het
Cyb5r3 C A 15: 83,160,404 A138S probably benign Het
Cyp3a57 A T 5: 145,371,024 N197Y probably damaging Het
Dctn2 A G 10: 127,277,690 probably benign Het
Dnmt1 C T 9: 20,910,270 A1197T possibly damaging Het
Dock2 T C 11: 34,704,661 D436G probably damaging Het
Drd4 A G 7: 141,292,183 N49S probably damaging Het
Dst T A 1: 34,166,292 V521D probably damaging Het
Eif5b T C 1: 38,041,719 S714P probably damaging Het
Elmsan1 G A 12: 84,172,855 R442* probably null Het
Glis3 A G 19: 28,540,264 I178T probably damaging Het
Gm11565 T A 11: 99,915,195 C138S possibly damaging Het
H1foo T A 6: 115,947,627 probably benign Het
Hdx T A X: 111,582,881 I623F probably benign Het
Huwe1 T G X: 151,885,627 L843V probably damaging Het
Hyal2 T C 9: 107,570,405 Y86H probably damaging Het
Irf7 A T 7: 141,264,640 S157T probably benign Het
Jmjd4 T A 11: 59,455,314 M331K probably damaging Het
Kdelc2 C A 9: 53,398,028 probably benign Het
Kdelc2 T A 9: 53,398,030 probably benign Het
Kdm2a A T 19: 4,356,898 D112E possibly damaging Het
Mamdc2 A C 19: 23,378,774 Y103* probably null Het
Map2k3 T C 11: 60,943,215 V77A possibly damaging Het
Mprip T A 11: 59,748,591 D403E probably benign Het
Mutyh T A 4: 116,819,319 V496D possibly damaging Het
Nbeal1 T C 1: 60,328,103 L2575P probably damaging Het
Nbeal1 T C 1: 60,281,883 V2051A probably damaging Het
Olfr16 T G 1: 172,957,591 S265R possibly damaging Het
Olfr575 T C 7: 102,955,104 K173E probably benign Het
Pcdhb6 T A 18: 37,334,224 I66N probably damaging Het
Pck2 T C 14: 55,542,641 Y89H probably benign Het
Polr3e C T 7: 120,940,811 Q594* probably null Het
Ptpro T G 6: 137,394,909 probably null Het
Rfx4 A G 10: 84,780,053 K28E possibly damaging Het
Shox2 T C 3: 66,981,441 E39G possibly damaging Het
Slc22a16 A T 10: 40,573,934 D122V probably benign Het
Smr3a A C 5: 88,008,060 probably benign Het
Taf4 G T 2: 179,976,625 L8M unknown Het
Tbkbp1 T A 11: 97,137,648 probably benign Het
Tepp G A 8: 95,313,048 R31H probably damaging Het
Tmem120b G T 5: 123,115,167 E210D probably damaging Het
Tmem120b A T 5: 123,115,166 probably null Het
Trim21 C T 7: 102,559,598 V305M probably damaging Het
Ube4a A T 9: 44,948,141 L353Q probably damaging Het
Zfyve1 A T 12: 83,574,798 N274K probably benign Het
Other mutations in Clcn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Clcn6 APN 4 148013738 missense probably damaging 1.00
IGL00973:Clcn6 APN 4 148013788 splice site probably benign
IGL01384:Clcn6 APN 4 148018966 missense probably damaging 1.00
IGL01465:Clcn6 APN 4 148021451 splice site probably benign
IGL01522:Clcn6 APN 4 148017535 missense probably benign 0.44
R0194:Clcn6 UTSW 4 148012756 missense probably damaging 1.00
R0280:Clcn6 UTSW 4 148008715 missense probably damaging 1.00
R0349:Clcn6 UTSW 4 148024194 missense possibly damaging 0.89
R0352:Clcn6 UTSW 4 148014606 missense probably damaging 1.00
R0586:Clcn6 UTSW 4 148038749 unclassified probably benign
R0927:Clcn6 UTSW 4 148029392 missense probably benign 0.30
R1141:Clcn6 UTSW 4 148013899 missense probably damaging 0.99
R1465:Clcn6 UTSW 4 148013901 missense probably damaging 1.00
R1465:Clcn6 UTSW 4 148013901 missense probably damaging 1.00
R1473:Clcn6 UTSW 4 148024156 missense possibly damaging 0.93
R1551:Clcn6 UTSW 4 148012778 missense possibly damaging 0.74
R1571:Clcn6 UTSW 4 148012769 missense possibly damaging 0.63
R1593:Clcn6 UTSW 4 148014594 missense probably benign
R1596:Clcn6 UTSW 4 148023379 missense probably damaging 1.00
R1706:Clcn6 UTSW 4 148017568 missense probably benign 0.00
R1769:Clcn6 UTSW 4 148014301 splice site probably null
R2021:Clcn6 UTSW 4 148010652 critical splice donor site probably null
R2022:Clcn6 UTSW 4 148010652 critical splice donor site probably null
R2049:Clcn6 UTSW 4 148024137 missense possibly damaging 0.88
R2081:Clcn6 UTSW 4 148011068 missense probably damaging 1.00
R2140:Clcn6 UTSW 4 148024137 missense possibly damaging 0.88
R2141:Clcn6 UTSW 4 148024137 missense possibly damaging 0.88
R2142:Clcn6 UTSW 4 148024137 missense possibly damaging 0.88
R2177:Clcn6 UTSW 4 148014600 missense possibly damaging 0.73
R2511:Clcn6 UTSW 4 148017494 critical splice donor site probably null
R2891:Clcn6 UTSW 4 148012616 critical splice donor site probably null
R3750:Clcn6 UTSW 4 148024187 nonsense probably null
R4014:Clcn6 UTSW 4 148017610 missense probably damaging 0.98
R4023:Clcn6 UTSW 4 148014283 missense possibly damaging 0.91
R4024:Clcn6 UTSW 4 148014283 missense possibly damaging 0.91
R4025:Clcn6 UTSW 4 148014283 missense possibly damaging 0.91
R4667:Clcn6 UTSW 4 148024167 missense possibly damaging 0.61
R4865:Clcn6 UTSW 4 148019766 missense probably damaging 1.00
R4978:Clcn6 UTSW 4 148008770 missense probably benign 0.05
R5140:Clcn6 UTSW 4 148038317 unclassified probably benign
R5345:Clcn6 UTSW 4 148038749 unclassified probably benign
R5467:Clcn6 UTSW 4 148017636 missense possibly damaging 0.81
R5665:Clcn6 UTSW 4 148014561 missense possibly damaging 0.71
R5739:Clcn6 UTSW 4 148014189 missense probably damaging 1.00
R5899:Clcn6 UTSW 4 148017592 missense probably benign 0.01
R6043:Clcn6 UTSW 4 148008788 missense probably damaging 1.00
R6351:Clcn6 UTSW 4 148017500 missense probably benign 0.01
R6593:Clcn6 UTSW 4 148010769 missense probably benign 0.21
R7440:Clcn6 UTSW 4 148014195 missense probably damaging 1.00
R7674:Clcn6 UTSW 4 148012694 missense probably damaging 1.00
R7756:Clcn6 UTSW 4 148029439 missense probably damaging 1.00
R7901:Clcn6 UTSW 4 148010745 missense probably damaging 1.00
R8559:Clcn6 UTSW 4 148026575 missense possibly damaging 0.88
R8747:Clcn6 UTSW 4 148008897 critical splice donor site probably null
V7732:Clcn6 UTSW 4 148013955 missense probably damaging 0.96
Z1177:Clcn6 UTSW 4 148023370 nonsense probably null
Posted On2015-08-05