Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00978:Clcn4'

27936

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clcn4

Ensembl Gene

ENSMUSG00000000605

Gene Name

chloride channel, voltage-sensitive 4

Synonyms

Clc4-2, Clcn4-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

7282309-7300851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7287673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 649 (L649H)

Ref Sequence

ENSEMBL: ENSMUSP00000147562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000619] [ENSMUST00000210061] [ENSMUST00000210594] [ENSMUST00000211574]

AlphaFold

Q61418

Predicted Effect

probably damaging
Transcript: ENSMUST00000000619
AA Change: L709H

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: L709H

Domain	Start	End	E-Value	Type
transmembrane domain	57	79	N/A	INTRINSIC
Pfam:Voltage_CLC	149	552	2.7e-111	PFAM
CBS	596	646	1.07e-1	SMART
CBS	687	734	4.92e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000210061
AA Change: L678H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210444

Predicted Effect

probably damaging
Transcript: ENSMUST00000210594
AA Change: L649H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000211574

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,350,947		probably benign	Het
Alpk2	A	T	18: 65,291,534		probably benign	Het
Angptl8	T	C	9: 21,837,053		probably benign	Het
AU040320	T	A	4: 126,828,839	D383E	probably benign	Het
Cep97	C	T	16: 55,924,960		probably benign	Het
Col5a2	T	C	1: 45,376,739	N1416S	probably benign	Het
Erbb2	C	T	11: 98,435,630	P1027S	probably damaging	Het
Eya1	A	G	1: 14,270,701		probably benign	Het
Gfm2	T	C	13: 97,162,977	I402T	probably benign	Het
Gmeb2	A	T	2: 181,259,043	V187E	probably benign	Het
Hectd1	T	C	12: 51,791,390	H662R	possibly damaging	Het
Ifne	T	C	4: 88,880,031	Q50R	probably benign	Het
Kidins220	A	G	12: 25,057,474	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245	D146V	probably damaging	Het
Krt36	T	C	11: 100,102,948	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,536,128	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,754,019	H853L	probably benign	Het
Map3k5	G	A	10: 20,141,567	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,821,406	N148S	probably benign	Het
Mylk3	A	T	8: 85,355,526	L211*	probably null	Het
Nras	T	C	3: 103,058,916		probably benign	Het
Olfr135	A	T	17: 38,208,982	I246F	probably damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Os9	A	T	10: 127,120,509	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,101,228	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,382,301	R95*	probably null	Het
Rnf17	C	T	14: 56,512,271	P1425S	probably damaging	Het
Smad2	T	C	18: 76,299,775		probably benign	Het
Ttll5	C	T	12: 85,933,482	Q76*	probably null	Het
Uri1	A	T	7: 37,996,731		probably benign	Het
Vmn2r102	G	T	17: 19,678,923		probably null	Het
Vmn2r70	T	G	7: 85,563,799	M467L	probably benign	Het
Zfp318	T	A	17: 46,413,726	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,314,029	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,309,998	H235R	possibly damaging	Het

Other mutations in Clcn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Clcn4	APN	7	7294036	missense	probably benign	0.01
IGL01650:Clcn4	APN	7	7284281	splice site	probably benign
IGL02404:Clcn4	APN	7	7287858	missense	probably benign	0.04
IGL02493:Clcn4	APN	7	7284244	missense	probably damaging	1.00
IGL02556:Clcn4	APN	7	7296066	missense	probably benign
IGL02661:Clcn4	APN	7	7291731	splice site	probably null
IGL02816:Clcn4	APN	7	7295088	missense	probably damaging	1.00
IGL02882:Clcn4	APN	7	7290465	missense	probably damaging	1.00
IGL03205:Clcn4	APN	7	7290420	missense	probably damaging	1.00
IGL03289:Clcn4	APN	7	7284258	missense	probably damaging	1.00
Delipidated	UTSW	7	7293061	missense	probably damaging	1.00
R0183:Clcn4	UTSW	7	7295091	nonsense	probably null
R0379:Clcn4	UTSW	7	7296792	missense	probably damaging	0.99
R0555:Clcn4	UTSW	7	7290504	missense	possibly damaging	0.65
R0890:Clcn4	UTSW	7	7288965	missense	possibly damaging	0.89
R1463:Clcn4	UTSW	7	7296764	nonsense	probably null
R1549:Clcn4	UTSW	7	7291682	missense	probably damaging	1.00
R1563:Clcn4	UTSW	7	7293982	missense	probably damaging	1.00
R1966:Clcn4	UTSW	7	7284185	makesense	probably null
R2764:Clcn4	UTSW	7	7296799	missense	possibly damaging	0.81
R2874:Clcn4	UTSW	7	7290521	missense	probably benign	0.33
R4023:Clcn4	UTSW	7	7290428	missense	probably damaging	1.00
R4024:Clcn4	UTSW	7	7290428	missense	probably damaging	1.00
R4152:Clcn4	UTSW	7	7294834	missense	probably benign	0.02
R4154:Clcn4	UTSW	7	7294834	missense	probably benign	0.02
R4298:Clcn4	UTSW	7	7296738	missense	possibly damaging	0.93
R4535:Clcn4	UTSW	7	7287814	missense	probably benign	0.01
R4574:Clcn4	UTSW	7	7287805	missense	probably benign	0.23
R4977:Clcn4	UTSW	7	7291437	missense	probably benign	0.00
R5158:Clcn4	UTSW	7	7291619	missense	possibly damaging	0.94
R5302:Clcn4	UTSW	7	7294051	missense	possibly damaging	0.95
R5369:Clcn4	UTSW	7	7296033	missense	probably benign	0.26
R5624:Clcn4	UTSW	7	7288944	missense	probably benign	0.35
R5626:Clcn4	UTSW	7	7289018	missense	probably damaging	1.00
R5723:Clcn4	UTSW	7	7291682	missense	probably damaging	1.00
R6154:Clcn4	UTSW	7	7291482	missense	probably benign	0.00
R6259:Clcn4	UTSW	7	7291530	missense	possibly damaging	0.92
R6396:Clcn4	UTSW	7	7294025	missense	probably damaging	1.00
R6783:Clcn4	UTSW	7	7299182	unclassified	probably benign
R7320:Clcn4	UTSW	7	7291828	missense	probably benign	0.19
R7562:Clcn4	UTSW	7	7295082	missense	possibly damaging	0.92
R7586:Clcn4	UTSW	7	7293959	missense	probably benign	0.00
R7752:Clcn4	UTSW	7	7293937	missense	probably benign
R7860:Clcn4	UTSW	7	7293061	missense	probably damaging	1.00
R7872:Clcn4	UTSW	7	7287781	missense	probably benign
R7895:Clcn4	UTSW	7	7295168	missense	probably benign	0.26
R8069:Clcn4	UTSW	7	7296759	missense	probably damaging	0.99
R8083:Clcn4	UTSW	7	7291428	missense	possibly damaging	0.69
R9185:Clcn4	UTSW	7	7284198	missense	possibly damaging	0.74
R9281:Clcn4	UTSW	7	7291814	missense	probably benign	0.16
R9333:Clcn4	UTSW	7	7289193	missense	probably damaging	1.00
R9682:Clcn4	UTSW	7	7296798	missense	probably benign	0.02
X0019:Clcn4	UTSW	7	7291610	missense	probably damaging	1.00
Z1177:Clcn4	UTSW	7	7293040	nonsense	probably null
Z1177:Clcn4	UTSW	7	7294756	missense	probably damaging	0.96

Posted On

2013-04-17