Mutagenetix > Incidental Mutation

Incidental Mutation 'R7860:Clcn4'

607425

Institutional Source

Beutler Lab

Gene Symbol

Clcn4

Ensembl Gene

ENSMUSG00000000605

Gene Name

chloride channel, voltage-sensitive 4

Synonyms

Clc4-2, Clcn4-2

MMRRC Submission

045913-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7285308-7303837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 7296060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 261 (G261C)

Ref Sequence

ENSEMBL: ENSMUSP00000000619 (fasta)

Gene Model

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

AlphaFold

Q61418

Predicted Effect

probably damaging
Transcript: ENSMUST00000000619
AA Change: G261C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: G261C

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 damaging
Transcript: ENSMUST00000210061
AA Change: G261C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210362

Predicted Effect

probably damaging
Transcript: ENSMUST00000210594
AA Change: G201C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211574

Meta Mutation Damage Score

0.9690

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,905,707 (GRCm39)	T493A	probably damaging	Het
Aars1	A	G	8: 111,776,493 (GRCm39)	K650E	probably benign	Het
Abcb1b	C	T	5: 8,882,258 (GRCm39)	S793F	probably benign	Het
Adamts18	T	A	8: 114,501,908 (GRCm39)	I318F	probably damaging	Het
Adcy8	A	G	15: 64,571,322 (GRCm39)	I1137T	probably damaging	Het
Ambra1	T	A	2: 91,603,838 (GRCm39)	F607L	probably benign	Het
Ankrd46	A	T	15: 36,479,566 (GRCm39)	V175D	possibly damaging	Het
Arhgap28	C	A	17: 68,208,277 (GRCm39)	E114*	probably null	Het
Arrdc1	C	T	2: 24,816,158 (GRCm39)	G282S	probably damaging	Het
Atp1a3	A	T	7: 24,681,216 (GRCm39)	L790Q	probably damaging	Het
Bend5	T	A	4: 111,272,406 (GRCm39)	V12D	probably damaging	Het
Bod1l	C	T	5: 41,976,608 (GRCm39)	E1569K	probably damaging	Het
Cdc123	T	A	2: 5,808,775 (GRCm39)	I234L	probably benign	Het
Cep126	T	G	9: 8,120,749 (GRCm39)	E91D	probably damaging	Het
Cep89	T	A	7: 35,113,570 (GRCm39)	D199E	possibly damaging	Het
Ces1d	T	C	8: 93,897,765 (GRCm39)	T442A	probably benign	Het
Chsy3	C	T	18: 59,542,299 (GRCm39)	A479V	probably benign	Het
Clhc1	A	T	11: 29,507,651 (GRCm39)		probably null	Het
Cnot3	T	A	7: 3,658,565 (GRCm39)		probably null	Het
Col9a1	C	A	1: 24,276,261 (GRCm39)	P723H	probably damaging	Het
Crybg3	A	T	16: 59,375,605 (GRCm39)	M169K	probably benign	Het
Cxxc4	A	G	3: 133,963,814 (GRCm39)	R353G	probably benign	Het
Dennd3	A	T	15: 73,412,657 (GRCm39)	I440F	probably damaging	Het
Dnai3	A	G	3: 145,772,675 (GRCm39)	L457P	probably damaging	Het
Elmo3	G	T	8: 106,035,649 (GRCm39)	S553I	probably damaging	Het
Elovl2	A	G	13: 41,340,943 (GRCm39)	Y198H	probably benign	Het
Epm2aip1	A	G	9: 111,101,105 (GRCm39)	Y26C	probably damaging	Het
Ext1	A	C	15: 52,953,335 (GRCm39)	C510G	possibly damaging	Het
Extl3	A	T	14: 65,314,938 (GRCm39)	D81E	probably benign	Het
Fbxl5	T	A	5: 43,916,018 (GRCm39)	T465S	probably benign	Het
Fbxo31	G	A	8: 122,291,384 (GRCm39)		probably null	Het
Gabrr2	A	T	4: 33,081,470 (GRCm39)	K169*	probably null	Het
Haus4	A	G	14: 54,779,602 (GRCm39)	Y341H	probably damaging	Het
Itgae	A	T	11: 73,011,099 (GRCm39)		probably null	Het
Jmjd7	C	T	2: 119,860,996 (GRCm39)	H149Y	possibly damaging	Het
Kcnh2	C	T	5: 24,529,561 (GRCm39)	C725Y	probably damaging	Het
Mroh1	C	T	15: 76,331,532 (GRCm39)	P1252L	probably benign	Het
Ms4a14	A	G	19: 11,280,308 (GRCm39)	F750S	probably benign	Het
Naf1	T	A	8: 67,313,165 (GRCm39)	D49E	unknown	Het
Notch3	T	C	17: 32,341,747 (GRCm39)	T2002A	possibly damaging	Het
Or10q12	T	A	19: 13,745,716 (GRCm39)	D3E	probably benign	Het
Or14c44	A	G	7: 86,057,119 (GRCm39)		probably benign	Het
Or1e33	A	T	11: 73,738,333 (GRCm39)	I206N	probably benign	Het
Or2d3c	A	T	7: 106,525,777 (GRCm39)	D296E	probably benign	Het
Or2l13b	A	T	16: 19,349,167 (GRCm39)	C168S	probably damaging	Het
Or7e175	A	T	9: 20,048,871 (GRCm39)	N153I	probably benign	Het
Or9s23	G	A	1: 92,501,810 (GRCm39)	D306N	probably benign	Het
Pck1	A	G	2: 172,997,743 (GRCm39)	T271A	possibly damaging	Het
Penk	A	G	4: 4,133,976 (GRCm39)	W224R	possibly damaging	Het
Per2	C	A	1: 91,372,481 (GRCm39)	V198F	probably damaging	Het
Phf11d	A	G	14: 59,599,280 (GRCm39)	M23T	probably damaging	Het
Pla2g4d	A	G	2: 120,097,211 (GRCm39)	V796A	probably benign	Het
Pramel51	A	T	12: 88,143,122 (GRCm39)	N360K	possibly damaging	Het
Prdx6	A	T	1: 161,069,428 (GRCm39)		probably null	Het
Prep	A	T	10: 44,967,108 (GRCm39)	N47I	probably damaging	Het
Prodh2	A	T	7: 30,212,064 (GRCm39)		probably null	Het
Prss38	G	T	11: 59,265,996 (GRCm39)	H96N	probably damaging	Het
Rab11a	C	A	9: 64,635,613 (GRCm39)	E47*	probably null	Het
Rad18	C	T	6: 112,626,798 (GRCm39)	G369D	probably benign	Het
Rragc	T	C	4: 123,823,717 (GRCm39)	V330A	probably damaging	Het
Serpina9	A	T	12: 103,967,680 (GRCm39)	H238Q	probably benign	Het
Serpinb3b	T	A	1: 107,085,467 (GRCm39)	K91N	probably damaging	Het
Slc16a12	T	G	19: 34,652,730 (GRCm39)	S139R	probably benign	Het
Slc22a27	T	A	19: 7,887,472 (GRCm39)		probably null	Het
Slc25a11	A	G	11: 70,536,005 (GRCm39)	V243A	probably benign	Het
Slc38a9	A	T	13: 112,868,148 (GRCm39)	I545F	probably benign	Het
Slc39a8	A	T	3: 135,590,157 (GRCm39)	H349L	probably damaging	Het
Slk	C	T	19: 47,630,510 (GRCm39)	T1227I	possibly damaging	Het
Spdye4b	A	G	5: 143,180,609 (GRCm39)	E25G	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
St3gal1	A	G	15: 66,983,114 (GRCm39)	V214A	probably benign	Het
St7l	T	A	3: 104,833,893 (GRCm39)	M550K	probably benign	Het
Tbk1	A	C	10: 121,388,151 (GRCm39)	F638C	possibly damaging	Het
Tex101	A	T	7: 24,369,190 (GRCm39)	C114S	probably damaging	Het
Ttll13	A	G	7: 79,905,135 (GRCm39)	M384V	probably benign	Het
Ugt2b37	A	T	5: 87,402,189 (GRCm39)	D147E	probably damaging	Het
Vmn1r10	A	T	6: 57,090,686 (GRCm39)	T93S	probably benign	Het
Wasl	G	A	6: 24,619,396 (GRCm39)	P375S	unknown	Het
Zfp236	C	A	18: 82,692,481 (GRCm39)	E165*	probably null	Het
Zfp839	A	T	12: 110,822,060 (GRCm39)	R291S	probably damaging	Het

Other mutations in Clcn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Clcn4	APN	7	7,290,672 (GRCm39)	missense	probably damaging	0.99
IGL01090:Clcn4	APN	7	7,297,035 (GRCm39)	missense	probably benign	0.01
IGL01650:Clcn4	APN	7	7,287,280 (GRCm39)	splice site	probably benign
IGL02404:Clcn4	APN	7	7,290,857 (GRCm39)	missense	probably benign	0.04
IGL02493:Clcn4	APN	7	7,287,243 (GRCm39)	missense	probably damaging	1.00
IGL02556:Clcn4	APN	7	7,299,065 (GRCm39)	missense	probably benign
IGL02661:Clcn4	APN	7	7,294,730 (GRCm39)	splice site	probably null
IGL02816:Clcn4	APN	7	7,298,087 (GRCm39)	missense	probably damaging	1.00
IGL02882:Clcn4	APN	7	7,293,464 (GRCm39)	missense	probably damaging	1.00
IGL03205:Clcn4	APN	7	7,293,419 (GRCm39)	missense	probably damaging	1.00
IGL03289:Clcn4	APN	7	7,287,257 (GRCm39)	missense	probably damaging	1.00
Delipidated	UTSW	7	7,296,060 (GRCm39)	missense	probably damaging	1.00
R0183:Clcn4	UTSW	7	7,298,090 (GRCm39)	nonsense	probably null
R0379:Clcn4	UTSW	7	7,299,791 (GRCm39)	missense	probably damaging	0.99
R0555:Clcn4	UTSW	7	7,293,503 (GRCm39)	missense	possibly damaging	0.65
R0890:Clcn4	UTSW	7	7,291,964 (GRCm39)	missense	possibly damaging	0.89
R1463:Clcn4	UTSW	7	7,299,763 (GRCm39)	nonsense	probably null
R1549:Clcn4	UTSW	7	7,294,681 (GRCm39)	missense	probably damaging	1.00
R1563:Clcn4	UTSW	7	7,296,981 (GRCm39)	missense	probably damaging	1.00
R1966:Clcn4	UTSW	7	7,287,184 (GRCm39)	makesense	probably null
R2764:Clcn4	UTSW	7	7,299,798 (GRCm39)	missense	possibly damaging	0.81
R2874:Clcn4	UTSW	7	7,293,520 (GRCm39)	missense	probably benign	0.33
R4023:Clcn4	UTSW	7	7,293,427 (GRCm39)	missense	probably damaging	1.00
R4024:Clcn4	UTSW	7	7,293,427 (GRCm39)	missense	probably damaging	1.00
R4152:Clcn4	UTSW	7	7,297,833 (GRCm39)	missense	probably benign	0.02
R4154:Clcn4	UTSW	7	7,297,833 (GRCm39)	missense	probably benign	0.02
R4298:Clcn4	UTSW	7	7,299,737 (GRCm39)	missense	possibly damaging	0.93
R4535:Clcn4	UTSW	7	7,290,813 (GRCm39)	missense	probably benign	0.01
R4574:Clcn4	UTSW	7	7,290,804 (GRCm39)	missense	probably benign	0.23
R4977:Clcn4	UTSW	7	7,294,436 (GRCm39)	missense	probably benign	0.00
R5158:Clcn4	UTSW	7	7,294,618 (GRCm39)	missense	possibly damaging	0.94
R5302:Clcn4	UTSW	7	7,297,050 (GRCm39)	missense	possibly damaging	0.95
R5369:Clcn4	UTSW	7	7,299,032 (GRCm39)	missense	probably benign	0.26
R5624:Clcn4	UTSW	7	7,291,943 (GRCm39)	missense	probably benign	0.35
R5626:Clcn4	UTSW	7	7,292,017 (GRCm39)	missense	probably damaging	1.00
R5723:Clcn4	UTSW	7	7,294,681 (GRCm39)	missense	probably damaging	1.00
R6154:Clcn4	UTSW	7	7,294,481 (GRCm39)	missense	probably benign	0.00
R6259:Clcn4	UTSW	7	7,294,529 (GRCm39)	missense	possibly damaging	0.92
R6396:Clcn4	UTSW	7	7,297,024 (GRCm39)	missense	probably damaging	1.00
R6783:Clcn4	UTSW	7	7,302,181 (GRCm39)	unclassified	probably benign
R7320:Clcn4	UTSW	7	7,294,827 (GRCm39)	missense	probably benign	0.19
R7562:Clcn4	UTSW	7	7,298,081 (GRCm39)	missense	possibly damaging	0.92
R7586:Clcn4	UTSW	7	7,296,958 (GRCm39)	missense	probably benign	0.00
R7752:Clcn4	UTSW	7	7,296,936 (GRCm39)	missense	probably benign
R7872:Clcn4	UTSW	7	7,290,780 (GRCm39)	missense	probably benign
R7895:Clcn4	UTSW	7	7,298,167 (GRCm39)	missense	probably benign	0.26
R8069:Clcn4	UTSW	7	7,299,758 (GRCm39)	missense	probably damaging	0.99
R8083:Clcn4	UTSW	7	7,294,427 (GRCm39)	missense	possibly damaging	0.69
R9185:Clcn4	UTSW	7	7,287,197 (GRCm39)	missense	possibly damaging	0.74
R9281:Clcn4	UTSW	7	7,294,813 (GRCm39)	missense	probably benign	0.16
R9333:Clcn4	UTSW	7	7,292,192 (GRCm39)	missense	probably damaging	1.00
R9682:Clcn4	UTSW	7	7,299,797 (GRCm39)	missense	probably benign	0.02
X0019:Clcn4	UTSW	7	7,294,609 (GRCm39)	missense	probably damaging	1.00
Z1177:Clcn4	UTSW	7	7,297,755 (GRCm39)	missense	probably damaging	0.96
Z1177:Clcn4	UTSW	7	7,296,039 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAATTTCGAAAATAGTACATGAGAGC -3'
(R):5'- CCACAATAAAGTCCATAGGGCTC -3'

Sequencing Primer
(F):5'- GTACATGAGAGCACATTTAACAGC -3'
(R):5'- TCCAATAGCTGACTGTGAGC -3'

Posted On

2019-12-20