Mutagenetix > Incidental Mutation

Incidental Mutation 'R1463:Clcn4'

159222

Institutional Source

Beutler Lab

Gene Symbol

Clcn4

Ensembl Gene

ENSMUSG00000000605

Gene Name

chloride channel, voltage-sensitive 4

Synonyms

Clc4-2, Clcn4-2

MMRRC Submission

039517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1463 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7285308-7303837 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 7299763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 22 (W22*)

Ref Sequence

ENSEMBL: ENSMUSP00000148061 (fasta)

Gene Model

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

AlphaFold

Q61418

Predicted Effect

probably null
Transcript: ENSMUST00000000619
AA Change: W22*

SMART Domains

Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: W22*

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

noncoding transcript
Transcript: ENSMUST00000176903

Predicted Effect

probably null
Transcript: ENSMUST00000209916
AA Change: W22*

Predicted Effect

probably null
Transcript: ENSMUST00000210061
AA Change: W22*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210318

Predicted Effect

probably null
Transcript: ENSMUST00000210362
AA Change: W22*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210444

Predicted Effect

probably null
Transcript: ENSMUST00000211574
AA Change: W22*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210989

Predicted Effect

probably benign
Transcript: ENSMUST00000210594

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

97% (97/100)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,205,384 (GRCm39)	I299N	probably damaging	Het
Abcc8	T	C	7: 45,803,936 (GRCm39)	T413A	probably benign	Het
Actc1	G	A	2: 113,880,010 (GRCm39)	S201F	probably damaging	Het
Adam30	G	A	3: 98,069,841 (GRCm39)	C558Y	probably damaging	Het
Adcy4	T	A	14: 56,016,396 (GRCm39)	I352F	probably damaging	Het
Adgrl4	A	T	3: 151,216,233 (GRCm39)	D472V	probably damaging	Het
Afap1l2	T	A	19: 56,918,583 (GRCm39)	M117L	probably benign	Het
AI597479	T	C	1: 43,152,389 (GRCm39)	V229A	probably damaging	Het
Ascc1	T	C	10: 59,898,338 (GRCm39)	V267A	probably benign	Het
Asxl3	A	G	18: 22,649,810 (GRCm39)	S600G	possibly damaging	Het
Atg14	T	C	14: 47,786,451 (GRCm39)	I268V	probably benign	Het
Bcas1	C	T	2: 170,260,584 (GRCm39)	V32I	probably benign	Het
Cacna1c	G	T	6: 118,570,955 (GRCm39)	D2106E	probably benign	Het
Cacna1i	A	G	15: 80,263,255 (GRCm39)	H1440R	possibly damaging	Het
Catsper2	G	A	2: 121,236,927 (GRCm39)	T240M	probably damaging	Het
Ccn4	T	A	15: 66,791,120 (GRCm39)	N307K	possibly damaging	Het
Cd163	A	G	6: 124,288,406 (GRCm39)	E279G	probably damaging	Het
Cdx2	C	T	5: 147,243,470 (GRCm39)	S108N	probably benign	Het
Cenpf	A	T	1: 189,386,936 (GRCm39)	N1781K	probably damaging	Het
Cgref1	T	A	5: 31,093,338 (GRCm39)		probably benign	Het
Cntn2	A	G	1: 132,448,875 (GRCm39)		probably null	Het
Cntn5	C	T	9: 9,673,801 (GRCm39)		probably null	Het
Cpeb3	A	G	19: 37,116,500 (GRCm39)	M377T	probably benign	Het
Cryge	T	A	1: 65,087,997 (GRCm39)	R135*	probably null	Het
Ctdsp2	C	A	10: 126,829,790 (GRCm39)		probably benign	Het
Ctsll3	G	A	13: 60,949,089 (GRCm39)		probably benign	Het
Cuzd1	C	A	7: 130,918,371 (GRCm39)	G189C	probably damaging	Het
Dmbt1	T	A	7: 130,711,366 (GRCm39)		probably null	Het
Dnai4	T	A	4: 102,944,615 (GRCm39)	L245F	possibly damaging	Het
Dnajc13	A	T	9: 104,056,139 (GRCm39)	S1587R	probably damaging	Het
Dock4	GCTCAGTGTATC	GC	12: 40,866,324 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,743,202 (GRCm39)	H701R	probably damaging	Het
Edem3	A	G	1: 151,683,261 (GRCm39)	T646A	possibly damaging	Het
Esrra	A	C	19: 6,889,823 (GRCm39)	D160E	probably benign	Het
Fbn2	T	C	18: 58,143,452 (GRCm39)	T2868A	probably benign	Het
Galnt7	T	A	8: 58,105,892 (GRCm39)	M41L	probably benign	Het
Gbf1	T	C	19: 46,259,984 (GRCm39)		probably benign	Het
Glyat	A	G	19: 12,625,467 (GRCm39)	N63S	probably damaging	Het
Gm9376	A	T	14: 118,504,894 (GRCm39)	M109L	probably benign	Het
H2-M10.3	A	G	17: 36,677,612 (GRCm39)	V222A	probably damaging	Het
Ifna12	T	G	4: 88,521,193 (GRCm39)	D118A	possibly damaging	Het
Inpp5j	T	C	11: 3,451,147 (GRCm39)	M501V	probably benign	Het
Itpr3	C	T	17: 27,336,128 (GRCm39)		probably benign	Het
Ivns1abp	A	G	1: 151,237,291 (GRCm39)	N527S	probably benign	Het
Kif13a	T	C	13: 47,083,088 (GRCm39)	T4A	possibly damaging	Het
Kif3b	T	C	2: 153,172,073 (GRCm39)	*748Q	probably null	Het
Klf8	C	T	X: 152,167,677 (GRCm39)	Q241*	probably null	Het
Kras	A	T	6: 145,170,787 (GRCm39)		probably benign	Het
Lamc3	C	A	2: 31,777,423 (GRCm39)	T23K	probably benign	Het
Lrrc74b	T	A	16: 17,377,737 (GRCm39)	H47L	probably benign	Het
Ly75	A	G	2: 60,199,101 (GRCm39)		probably null	Het
Map3k21	G	A	8: 126,668,876 (GRCm39)	G821S	probably benign	Het
Mettl14	A	G	3: 123,167,722 (GRCm39)		probably benign	Het
Mettl5	T	C	2: 69,715,590 (GRCm39)		probably benign	Het
Mier3	A	G	13: 111,848,289 (GRCm39)	D301G	probably damaging	Het
Mipep	T	C	14: 61,025,595 (GRCm39)		probably benign	Het
Mmp21	T	C	7: 133,277,588 (GRCm39)		probably null	Het
Msh4	A	G	3: 153,563,207 (GRCm39)	L723P	probably damaging	Het
Muc5b	T	C	7: 141,412,817 (GRCm39)	V1921A	unknown	Het
Myo1e	G	A	9: 70,246,038 (GRCm39)	E410K	possibly damaging	Het
Nav2	T	G	7: 49,185,710 (GRCm39)	I951S	probably damaging	Het
Npc1	G	A	18: 12,324,887 (GRCm39)	T1202I	probably damaging	Het
Or10j3	A	G	1: 173,030,934 (GRCm39)	K4E	probably benign	Het
Or2ab1	A	G	11: 58,488,947 (GRCm39)	R242G	probably damaging	Het
Or5a3	C	T	19: 12,400,252 (GRCm39)	T193I	probably benign	Het
Pacc1	T	C	1: 191,060,486 (GRCm39)		probably benign	Het
Patl2	C	T	2: 121,954,216 (GRCm39)	V452M	probably benign	Het
Pcdh18	A	G	3: 49,709,854 (GRCm39)	V487A	probably damaging	Het
Pdzph1	C	T	17: 59,239,440 (GRCm39)	A963T	probably damaging	Het
Pkd1l1	C	T	11: 8,866,302 (GRCm39)	V518M	probably damaging	Het
Plcd3	A	G	11: 102,969,199 (GRCm39)	F256S	probably damaging	Het
Proc	T	C	18: 32,266,491 (GRCm39)	D112G	possibly damaging	Het
Ptges2	T	A	2: 32,290,874 (GRCm39)		probably null	Het
Pth2r	A	T	1: 65,402,436 (GRCm39)	R312W	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,073 (GRCm39)		probably benign	Het
Rbbp6	C	T	7: 122,591,676 (GRCm39)	H546Y	possibly damaging	Het
Retreg2	A	G	1: 75,123,164 (GRCm39)	E364G	probably damaging	Het
Rxrb	G	A	17: 34,253,134 (GRCm39)	C185Y	probably damaging	Het
Septin2	T	A	1: 93,427,037 (GRCm39)	N133K	possibly damaging	Het
Serpina3b	T	A	12: 104,104,969 (GRCm39)	S382T	probably benign	Het
Serpinb9e	T	C	13: 33,439,099 (GRCm39)	F175S	probably benign	Het
Slc19a2	C	T	1: 164,084,766 (GRCm39)	H219Y	probably damaging	Het
Slfn9	A	T	11: 82,872,524 (GRCm39)	D737E	possibly damaging	Het
Snx31	T	C	15: 36,539,444 (GRCm39)	E144G	probably null	Het
Sp2	A	G	11: 96,854,282 (GRCm39)		probably benign	Het
Spag9	C	T	11: 94,007,663 (GRCm39)	L1117F	probably damaging	Het
Spata31e2	G	T	1: 26,721,222 (GRCm39)	Y1319*	probably null	Het
Syndig1l	A	T	12: 84,727,137 (GRCm39)		probably benign	Het
Sypl1	A	T	12: 33,024,332 (GRCm39)		probably benign	Het
Tmem169	T	C	1: 72,339,855 (GRCm39)	M95T	probably benign	Het
Tnfrsf17	A	G	16: 11,133,066 (GRCm39)	Y48C	possibly damaging	Het
Ttn	A	T	2: 76,657,859 (GRCm39)		probably benign	Het
Uap1	G	C	1: 169,977,952 (GRCm39)	H366Q	probably benign	Het
Ulbp1	A	G	10: 7,396,557 (GRCm39)		probably benign	Het
Urb2	T	C	8: 124,757,647 (GRCm39)	V1118A	probably benign	Het
Usp54	T	C	14: 20,600,258 (GRCm39)	N1493S	probably benign	Het
Vmn1r129	C	A	7: 21,094,655 (GRCm39)	V188F	probably benign	Het
Vmn1r226	A	T	17: 20,907,994 (GRCm39)	L75F	probably benign	Het
Yes1	T	A	5: 32,809,046 (GRCm39)	S137R	probably benign	Het
Zfp804b	A	G	5: 7,229,372 (GRCm39)		probably benign	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
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
R7860:Clcn4	UTSW	7	7,296,060 (GRCm39)	missense	probably damaging	1.00
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'- TTTCTCTCTGTGGAACCGACATGC -3'
(R):5'- AGAGTTCCTGAATCATGCCGCC -3'

Sequencing Primer
(F):5'- TGGAACCGACATGCGACAC -3'
(R):5'- GAATCATGCCGCCATATCTATGTTG -3'

Posted On

2014-03-14