Incidental Mutation 'IGL01465:Clcn6'
ID 88100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clcn6
Ensembl Gene ENSMUSG00000029016
Gene Name chloride channel, voltage-sensitive 6
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL01465
Quality Score
Status
Chromosome 4
Chromosomal Location 148088716-148123270 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 148105908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030879] [ENSMUST00000105711] [ENSMUST00000137724]
AlphaFold O35454
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000134377
Predicted Effect probably benign
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Clcn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Clcn6 APN 4 148,102,359 (GRCm39) critical splice donor site probably null
IGL00434:Clcn6 APN 4 148,098,195 (GRCm39) missense probably damaging 1.00
IGL00973:Clcn6 APN 4 148,098,245 (GRCm39) splice site probably benign
IGL01384:Clcn6 APN 4 148,103,423 (GRCm39) missense probably damaging 1.00
IGL01522:Clcn6 APN 4 148,101,992 (GRCm39) missense probably benign 0.44
R0194:Clcn6 UTSW 4 148,097,213 (GRCm39) missense probably damaging 1.00
R0280:Clcn6 UTSW 4 148,093,172 (GRCm39) missense probably damaging 1.00
R0349:Clcn6 UTSW 4 148,108,651 (GRCm39) missense possibly damaging 0.89
R0352:Clcn6 UTSW 4 148,099,063 (GRCm39) missense probably damaging 1.00
R0586:Clcn6 UTSW 4 148,123,206 (GRCm39) unclassified probably benign
R0927:Clcn6 UTSW 4 148,113,849 (GRCm39) missense probably benign 0.30
R1141:Clcn6 UTSW 4 148,098,356 (GRCm39) missense probably damaging 0.99
R1465:Clcn6 UTSW 4 148,098,358 (GRCm39) missense probably damaging 1.00
R1465:Clcn6 UTSW 4 148,098,358 (GRCm39) missense probably damaging 1.00
R1473:Clcn6 UTSW 4 148,108,613 (GRCm39) missense possibly damaging 0.93
R1551:Clcn6 UTSW 4 148,097,235 (GRCm39) missense possibly damaging 0.74
R1571:Clcn6 UTSW 4 148,097,226 (GRCm39) missense possibly damaging 0.63
R1593:Clcn6 UTSW 4 148,099,051 (GRCm39) missense probably benign
R1596:Clcn6 UTSW 4 148,107,836 (GRCm39) missense probably damaging 1.00
R1706:Clcn6 UTSW 4 148,102,025 (GRCm39) missense probably benign 0.00
R1769:Clcn6 UTSW 4 148,098,758 (GRCm39) splice site probably null
R2021:Clcn6 UTSW 4 148,095,109 (GRCm39) critical splice donor site probably null
R2022:Clcn6 UTSW 4 148,095,109 (GRCm39) critical splice donor site probably null
R2049:Clcn6 UTSW 4 148,108,594 (GRCm39) missense possibly damaging 0.88
R2081:Clcn6 UTSW 4 148,095,525 (GRCm39) missense probably damaging 1.00
R2140:Clcn6 UTSW 4 148,108,594 (GRCm39) missense possibly damaging 0.88
R2141:Clcn6 UTSW 4 148,108,594 (GRCm39) missense possibly damaging 0.88
R2142:Clcn6 UTSW 4 148,108,594 (GRCm39) missense possibly damaging 0.88
R2177:Clcn6 UTSW 4 148,099,057 (GRCm39) missense possibly damaging 0.73
R2511:Clcn6 UTSW 4 148,101,951 (GRCm39) critical splice donor site probably null
R2891:Clcn6 UTSW 4 148,097,073 (GRCm39) critical splice donor site probably null
R3750:Clcn6 UTSW 4 148,108,644 (GRCm39) nonsense probably null
R4014:Clcn6 UTSW 4 148,102,067 (GRCm39) missense probably damaging 0.98
R4023:Clcn6 UTSW 4 148,098,740 (GRCm39) missense possibly damaging 0.91
R4024:Clcn6 UTSW 4 148,098,740 (GRCm39) missense possibly damaging 0.91
R4025:Clcn6 UTSW 4 148,098,740 (GRCm39) missense possibly damaging 0.91
R4667:Clcn6 UTSW 4 148,108,624 (GRCm39) missense possibly damaging 0.61
R4865:Clcn6 UTSW 4 148,104,223 (GRCm39) missense probably damaging 1.00
R4978:Clcn6 UTSW 4 148,093,227 (GRCm39) missense probably benign 0.05
R5140:Clcn6 UTSW 4 148,122,774 (GRCm39) unclassified probably benign
R5345:Clcn6 UTSW 4 148,123,206 (GRCm39) unclassified probably benign
R5467:Clcn6 UTSW 4 148,102,093 (GRCm39) missense possibly damaging 0.81
R5665:Clcn6 UTSW 4 148,099,018 (GRCm39) missense possibly damaging 0.71
R5739:Clcn6 UTSW 4 148,098,646 (GRCm39) missense probably damaging 1.00
R5899:Clcn6 UTSW 4 148,102,049 (GRCm39) missense probably benign 0.01
R6043:Clcn6 UTSW 4 148,093,245 (GRCm39) missense probably damaging 1.00
R6351:Clcn6 UTSW 4 148,101,957 (GRCm39) missense probably benign 0.01
R6593:Clcn6 UTSW 4 148,095,226 (GRCm39) missense probably benign 0.21
R7440:Clcn6 UTSW 4 148,098,652 (GRCm39) missense probably damaging 1.00
R7674:Clcn6 UTSW 4 148,097,151 (GRCm39) missense probably damaging 1.00
R7756:Clcn6 UTSW 4 148,113,896 (GRCm39) missense probably damaging 1.00
R7901:Clcn6 UTSW 4 148,095,202 (GRCm39) missense probably damaging 1.00
R8559:Clcn6 UTSW 4 148,111,032 (GRCm39) missense possibly damaging 0.88
R8747:Clcn6 UTSW 4 148,093,354 (GRCm39) critical splice donor site probably null
R9246:Clcn6 UTSW 4 148,113,866 (GRCm39) missense probably benign 0.25
R9343:Clcn6 UTSW 4 148,098,458 (GRCm39) missense probably benign 0.03
V7732:Clcn6 UTSW 4 148,098,412 (GRCm39) missense probably damaging 0.96
Z1177:Clcn6 UTSW 4 148,107,827 (GRCm39) nonsense probably null
Posted On 2013-11-18