Incidental Mutation 'IGL01505:Clcn5'
ID89043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clcn5
Ensembl Gene ENSMUSG00000004317
Gene Namechloride channel, voltage-sensitive 5
SynonymsD930009B12Rik, 5430408K11Rik, ClC-5, Clc5, DXImx42e, Sfc13
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01505
Quality Score
Status
ChromosomeX
Chromosomal Location7153810-7319358 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 7170439 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 268 (L268*)
Ref Sequence ENSEMBL: ENSMUSP00000111412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004428] [ENSMUST00000115746] [ENSMUST00000128319]
Predicted Effect probably null
Transcript: ENSMUST00000004428
AA Change: L198*
SMART Domains Protein: ENSMUSP00000004428
Gene: ENSMUSG00000004317
AA Change: L198*

DomainStartEndE-ValueType
transmembrane domain 55 77 N/A INTRINSIC
Pfam:Voltage_CLC 149 551 3.6e-105 PFAM
CBS 595 645 2.01e-6 SMART
low complexity region 667 676 N/A INTRINSIC
CBS 686 733 5.73e-11 SMART
Predicted Effect probably null
Transcript: ENSMUST00000115746
AA Change: L268*
SMART Domains Protein: ENSMUSP00000111412
Gene: ENSMUSG00000004317
AA Change: L268*

DomainStartEndE-ValueType
low complexity region 17 26 N/A INTRINSIC
transmembrane domain 125 147 N/A INTRINSIC
Pfam:Voltage_CLC 219 621 1.3e-113 PFAM
CBS 665 715 2.01e-6 SMART
low complexity region 737 746 N/A INTRINSIC
CBS 756 803 5.73e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128319
SMART Domains Protein: ENSMUSP00000122555
Gene: ENSMUSG00000004317

DomainStartEndE-ValueType
low complexity region 17 26 N/A INTRINSIC
transmembrane domain 125 147 N/A INTRINSIC
SCOP:d1kpla_ 184 224 4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154382
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 member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozyous for targeted mutations that inactivate this gene display impaired endocytosis of filtered proteins by kidney proximal tubular cells and provide a model of Dent's disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T C 18: 68,947,347 probably null Het
A2m A G 6: 121,676,947 N1413S possibly damaging Het
Arhgap45 A T 10: 80,026,542 N488Y probably benign Het
Arid4a G A 12: 71,037,115 D94N probably damaging Het
Atp7a A G X: 106,109,830 K1114E probably damaging Het
Atp8a2 C T 14: 60,028,063 V275M probably benign Het
Ceacam12 T C 7: 18,067,432 V112A probably damaging Het
Cep295 T A 9: 15,318,049 D2256V probably benign Het
Chid1 A T 7: 141,513,894 probably null Het
Cldn17 A G 16: 88,506,703 I46T possibly damaging Het
Cnot1 A T 8: 95,728,718 I2025N probably damaging Het
Cntn5 C T 9: 9,706,087 V574M probably damaging Het
Col14a1 T A 15: 55,455,223 C1373S unknown Het
Col9a1 A G 1: 24,185,124 N129S unknown Het
Cp C T 3: 19,977,192 P598S possibly damaging Het
Cpb1 G A 3: 20,266,246 R150C probably damaging Het
Cyp2j7 T A 4: 96,227,680 probably null Het
Dnajb7 T C 15: 81,407,491 E215G possibly damaging Het
Dock1 G A 7: 135,158,510 R1634Q possibly damaging Het
Dopey2 A G 16: 93,757,116 T313A possibly damaging Het
Fgd2 T A 17: 29,366,997 V185E probably damaging Het
Flnb T C 14: 7,902,003 probably null Het
Fzd7 A G 1: 59,483,903 E315G probably benign Het
Gjc1 T A 11: 102,800,726 K150N probably benign Het
Gm436 C T 4: 144,674,618 V99M probably damaging Het
Gpihbp1 C T 15: 75,598,128 probably benign Het
Gpr160 T C 3: 30,895,853 S25P possibly damaging Het
Grsf1 G A 5: 88,672,749 R58* probably null Het
Ifit1 T A 19: 34,648,454 M330K probably benign Het
Igkv1-122 T C 6: 68,017,194 V22A probably benign Het
Ikbke A T 1: 131,255,311 D692E probably benign Het
Il15ra T C 2: 11,733,145 probably benign Het
Il18rap A G 1: 40,537,084 I252V probably damaging Het
Klra10 C T 6: 130,272,717 G202R probably damaging Het
Kpna7 A G 5: 144,992,851 V388A probably damaging Het
L2hgdh A G 12: 69,721,401 S108P probably damaging Het
Msto1 G A 3: 88,910,743 T388M probably benign Het
Naip1 T C 13: 100,425,933 E908G probably damaging Het
Neto1 C A 18: 86,473,689 D238E possibly damaging Het
Nlrp5 T A 7: 23,417,734 D294E probably benign Het
Nr3c2 T C 8: 76,909,187 S306P probably damaging Het
Olfr890 T A 9: 38,143,871 C240* probably null Het
Pard3 T A 8: 127,324,063 L202H probably damaging Het
Pdzd2 T C 15: 12,458,207 N190S probably damaging Het
Pi4ka T C 16: 17,309,358 D1077G probably benign Het
Pmfbp1 A C 8: 109,513,911 L208F probably damaging Het
Pms1 C T 1: 53,206,971 D470N probably benign Het
Prdm10 T C 9: 31,327,282 F108L probably benign Het
Rab11fip1 A T 8: 27,154,776 M327K possibly damaging Het
Slc37a4 T A 9: 44,399,964 L184Q probably damaging Het
Smdt1 T C 15: 82,347,893 probably benign Het
Smg6 A G 11: 75,156,291 Y1270C probably damaging Het
Speer4f2 T A 5: 17,376,567 V169E possibly damaging Het
Stpg2 C T 3: 139,317,453 A410V probably benign Het
Tnrc6b T A 15: 80,879,963 D555E probably benign Het
Tsg101 A G 7: 46,909,060 Y46H probably damaging Het
Vmn2r111 G A 17: 22,548,572 S648L probably benign Het
Vmn2r73 T A 7: 85,858,059 R682* probably null Het
Xkr5 A T 8: 18,933,498 I676N probably damaging Het
Other mutations in Clcn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02178:Clcn5 APN X 7186324 missense possibly damaging 0.93
IGL03179:Clcn5 APN X 7163326 splice site probably null
IGL03264:Clcn5 APN X 7178374 missense probably benign
R4700:Clcn5 UTSW X 7166352 splice site probably null
Posted On2013-12-03