Mutagenetix > Incidental Mutation

Incidental Mutation 'R7872:Clcn4'

608178

Institutional Source

Beutler Lab

Gene Symbol

Clcn4

Ensembl Gene

ENSMUSG00000000605

Gene Name

chloride channel, voltage-sensitive 4

Synonyms

Clc4-2, Clcn4-2

MMRRC Submission

045924-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7282309-7300851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7287781 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 673 (N673S)

Ref Sequence

ENSEMBL: ENSMUSP00000000619 (fasta)

Gene Model

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

AlphaFold

Q61418

Predicted Effect

probably benign
Transcript: ENSMUST00000000619
AA Change: N673S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: N673S

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: ENSMUST00000210061
AA Change: N642S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210594
AA Change: N613S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211574

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,243,439	D290N	probably damaging	Het
Adam18	T	C	8: 24,611,100	D682G	probably benign	Het
Ankrd46	A	G	15: 36,485,843	V88A	possibly damaging	Het
Ankub1	T	A	3: 57,665,386	K305I	probably damaging	Het
Atrn	T	A	2: 130,970,227		probably null	Het
Bambi	A	T	18: 3,511,406	T76S	probably benign	Het
Cacna1a	T	A	8: 84,583,654	V1447E	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Clcn2	A	G	16: 20,708,460	M629T	probably damaging	Het
Col20a1	T	C	2: 180,986,578	F15S	probably benign	Het
Col2a1	G	A	15: 98,000,577	Q39*	probably null	Het
Creb3	A	G	4: 43,563,332	E119G	probably benign	Het
Dnah5	A	C	15: 28,245,684	D556A	probably damaging	Het
Edar	C	T	10: 58,610,526	M192I	possibly damaging	Het
Fam91a1	A	G	15: 58,448,360	M634V	probably benign	Het
Fbxo10	C	T	4: 45,051,699	V471I	not run	Het
Fer1l5	T	C	1: 36,421,886	F2032L	probably benign	Het
Gm5150	A	C	3: 16,006,321	M1R	probably null	Het
Grin1	T	C	2: 25,298,190	E509G	probably benign	Het
Igkv10-94	C	T	6: 68,704,929		probably benign	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Ints8	A	T	4: 11,254,062	C17S	probably benign	Het
Kcnmb1	T	C	11: 33,966,275	Y74H	probably damaging	Het
Kpna1	T	C	16: 36,023,195	V313A	probably benign	Het
Lrp4	C	T	2: 91,490,716	T1029I	possibly damaging	Het
Lrrc7	A	T	3: 158,353,462	C3S	probably damaging	Het
Lyst	C	A	13: 13,635,865	H707N	probably benign	Het
Map3k20	A	G	2: 72,371,754	K148R	probably damaging	Het
Mcidas	G	A	13: 112,998,987	G315S	probably damaging	Het
Miip	C	T	4: 147,862,918	G236S	probably benign	Het
Mocs1	T	A	17: 49,439,533	I177N	probably damaging	Het
Muc5b	A	G	7: 141,846,113	D441G	unknown	Het
Ncoa1	T	C	12: 4,278,186	N884S	probably benign	Het
Olfr33	A	G	7: 102,714,182	V77A	probably benign	Het
Olfr533	A	G	7: 140,466,783	N194S	probably damaging	Het
Padi6	A	T	4: 140,727,762	F621L	probably damaging	Het
Pde8b	C	A	13: 95,086,839	M197I	possibly damaging	Het
Pear1	T	A	3: 87,752,215	I771L	probably benign	Het
Poli	A	G	18: 70,522,820	L281P	probably damaging	Het
Prdm12	T	C	2: 31,640,219	W41R	probably damaging	Het
Prkdc	T	G	16: 15,715,006	S1500A	probably benign	Het
Prune2	T	A	19: 17,119,434	H767Q	probably benign	Het
Rasgef1b	G	A	5: 99,234,544	Q196*	probably null	Het
Rnpc3	A	T	3: 113,622,447	L121*	probably null	Het
Rpp14	A	G	14: 8,083,724	M1V	probably null	Het
Ryr2	T	A	13: 11,595,724	D4072V	probably damaging	Het
Sgms1	T	C	19: 32,125,365	H314R	probably damaging	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Slc37a3	A	T	6: 39,347,310	Y335N	probably damaging	Het
Tcp11l1	A	T	2: 104,706,492	H9Q	probably benign	Het
Tnrc6a	T	A	7: 123,179,834	M1256K	probably damaging	Het
Trpc6	A	G	9: 8,609,909	N126S	probably damaging	Het
Ubr4	T	C	4: 139,393,062	F266S	possibly damaging	Het
Uimc1	A	G	13: 55,069,737	V424A	possibly damaging	Het
Utrn	T	C	10: 12,698,129	I1066V	probably benign	Het
Vmn1r204	A	G	13: 22,556,234	T12A	probably benign	Het
Vmn1r57	T	A	7: 5,220,614	I46N	possibly damaging	Het
Vmn1r91	T	C	7: 20,101,914	Y253H	probably benign	Het
Vmn2r14	T	A	5: 109,221,353	H118L	probably benign	Het
Zcchc11	T	G	4: 108,517,518	C933G	probably damaging	Het
Zfp775	A	G	6: 48,620,470	K426R	probably benign	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
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
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'- AAGCTGGCCGCACTATGTAC -3'
(R):5'- TAAAGTGCTTGTTATGACTGTGCC -3'

Sequencing Primer
(F):5'- GGCCGCACTATGTACTCAATC -3'
(R):5'- CCAAACTCCTTTTTGAGATTCTGAG -3'

Posted On

2019-12-20