Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01505:Clcn5'

89043

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clcn5

Ensembl Gene

ENSMUSG00000004317

Gene Name

chloride channel, voltage-sensitive 5

Synonyms

D930009B12Rik, 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

Chromosome

Chromosomal Location

7153810-7319358 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 7170439 bp

Zygosity

Heterozygous

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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2013-12-03