Mutagenetix > Incidental Mutation

Incidental Mutation 'R4977:Clcn4'

382754

Institutional Source

Beutler Lab

Gene Symbol

Clcn4

Ensembl Gene

ENSMUSG00000000605

Gene Name

chloride channel, voltage-sensitive 4

Synonyms

Clc4-2, Clcn4-2

MMRRC Submission

042572-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7282309-7300851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7291437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 411 (I411F)

Ref Sequence

ENSEMBL: ENSMUSP00000148174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000619] [ENSMUST00000209916] [ENSMUST00000210061] [ENSMUST00000210362] [ENSMUST00000210594] [ENSMUST00000211574]

AlphaFold

Q61418

Predicted Effect

probably benign
Transcript: ENSMUST00000000619
AA Change: I442F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: I442F

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 benign
Transcript: ENSMUST00000209916

Predicted Effect

probably benign
Transcript: ENSMUST00000210061
AA Change: I411F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210318

Predicted Effect

probably benign
Transcript: ENSMUST00000210362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210444

Predicted Effect

probably benign
Transcript: ENSMUST00000210594
AA Change: I382F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211551

Predicted Effect

probably benign
Transcript: ENSMUST00000211574

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,136,073	D910G	probably benign	Het
Amy1	C	T	3: 113,569,377		probably null	Het
C1s2	A	G	6: 124,635,639	M19T	probably damaging	Het
Cadps2	A	G	6: 23,599,479	I276T	probably damaging	Het
Cdyl2	A	G	8: 116,575,269	C458R	probably damaging	Het
Cep112	T	C	11: 108,434,236	S35P	probably damaging	Het
Chd9	T	C	8: 91,033,708	L2027P	possibly damaging	Het
Cyp3a57	T	C	5: 145,349,426		probably null	Het
Dis3l	A	C	9: 64,307,201	S919A	probably benign	Het
Dnah8	A	G	17: 30,663,301	T616A	probably benign	Het
Emx2	A	G	19: 59,459,246	T11A	probably damaging	Het
Fam160a2	A	T	7: 105,389,335	D232E	probably damaging	Het
Fbxl18	A	G	5: 142,886,085	L465P	probably damaging	Het
Fbxw27	G	A	9: 109,772,119	T311I	probably damaging	Het
Fstl5	C	T	3: 76,410,494	Q156*	probably null	Het
Ggn	G	T	7: 29,172,196	G334C	probably damaging	Het
Grik2	T	C	10: 49,132,745	N749D	probably damaging	Het
Helb	A	G	10: 120,110,881	S176P	probably benign	Het
Hyal1	A	G	9: 107,578,954	D73G	probably benign	Het
Ifi205	C	A	1: 174,015,008	R374I	probably benign	Het
Ift172	A	T	5: 31,272,116	V567D	possibly damaging	Het
Ighv1-43	A	T	12: 114,946,225	S26T	possibly damaging	Het
Il21	C	A	3: 37,232,504	S21I	probably damaging	Het
Jam3	A	G	9: 27,098,373	V309A	probably damaging	Het
Kcnh4	A	T	11: 100,746,833	L666Q	probably damaging	Het
Kcnk10	A	G	12: 98,440,687	V250A	probably benign	Het
Lama1	A	G	17: 67,737,682	Y192C	probably damaging	Het
Lamb2	G	A	9: 108,487,647	R1200H	probably damaging	Het
Lilra6	T	G	7: 3,914,383	R204S	probably benign	Het
Lrrn1	A	G	6: 107,568,707	I489V	probably benign	Het
Mdh2	T	A	5: 135,783,409	D57E	probably damaging	Het
Mfsd2a	A	G	4: 122,950,509	S282P	probably benign	Het
Midn	T	A	10: 80,150,184	I36N	probably damaging	Het
Mpped1	A	T	15: 83,796,706		probably benign	Het
Myh10	A	G	11: 68,798,371	D1258G	possibly damaging	Het
Nup62	T	C	7: 44,829,025	S155P	possibly damaging	Het
Olfr130	A	T	17: 38,067,747	H192L	possibly damaging	Het
Olfr325	A	G	11: 58,581,629	T262A	possibly damaging	Het
Olfr598	A	T	7: 103,328,833	M116L	probably benign	Het
Pex7	T	C	10: 19,869,332	T258A	probably benign	Het
Plg	A	G	17: 12,403,089	D432G	probably damaging	Het
Plxnd1	A	T	6: 115,994,376	S144T	probably damaging	Het
Prkch	T	C	12: 73,702,893	F420S	possibly damaging	Het
Psg26	A	G	7: 18,475,310	V391A	probably benign	Het
Psg29	G	A	7: 17,208,631	G186R	probably damaging	Het
Rev3l	T	A	10: 39,823,578	I1357K	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,916		probably benign	Het
Runx1	T	A	16: 92,644,347		probably null	Het
Sapcd1	A	T	17: 35,026,451	S119T	possibly damaging	Het
Sema5a	T	A	15: 32,679,186	N870K	probably damaging	Het
Serpina3f	G	A	12: 104,217,055	E59K	probably benign	Het
Slc8b1	A	G	5: 120,524,287	K299E	possibly damaging	Het
Slco1b2	G	A	6: 141,657,557	M221I	probably benign	Het
Smg5	C	T	3: 88,355,725	Q812*	probably null	Het
Smr3a	T	G	5: 88,008,103		probably null	Het
Syt9	G	A	7: 107,504,272	D426N	probably damaging	Het
Tcf25	T	C	8: 123,388,635	Y204H	probably benign	Het
Tmeff2	T	A	1: 50,979,556	C232*	probably null	Het
Tmem184a	C	A	5: 139,808,002	G219V	probably null	Het
Tnc	G	T	4: 64,006,248	T1071K	possibly damaging	Het
Tnn	C	A	1: 160,120,618	G842W	probably damaging	Het
Tshz3	T	A	7: 36,771,190	I868N	probably benign	Het
Ulbp1	C	T	10: 7,447,391	R238H	probably benign	Het
Ushbp1	C	T	8: 71,395,049		probably null	Het
Usp34	G	C	11: 23,488,982	D3515H	probably damaging	Het
Wdr91	T	C	6: 34,910,791	E10G	probably damaging	Het
Xdh	A	T	17: 73,898,970	F1016L	probably benign	Het
Zfp235	T	G	7: 24,142,184	I676S	possibly damaging	Het
Zfp619	G	A	7: 39,537,387	C947Y	probably damaging	Het
Zfp663	A	G	2: 165,353,811	S163P	probably damaging	Het
Zfp93	A	G	7: 24,275,411	I274V	probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	Het

Other mutations in Clcn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Clcn4	APN	7	7287673	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- ATTTTCCAGCGATCTCAAGGGC -3'
(R):5'- CACCAGTGAGCTCATCTCTG -3'

Sequencing Primer
(F):5'- AGCAGACTGTGTGGTCTAATAG -3'
(R):5'- CTGAGCTCTTCAACGATTGTG -3'

Posted On

2016-04-27