Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02750:Clcnkb'

306271

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clcnkb

Ensembl Gene

ENSMUSG00000006216

Gene Name

chloride channel, voltage-sensitive Kb

Synonyms

Clcnk1l, Clck2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02750

Quality Score

Status

Chromosome

Chromosomal Location

141404353-141416014 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 141405362 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006378] [ENSMUST00000105788]

Predicted Effect

probably null
Transcript: ENSMUST00000006378

SMART Domains

Protein: ENSMUSP00000006378
Gene: ENSMUSG00000006216

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	102	514	1.5e-77	PFAM
CBS	554	604	1.77e-2	SMART
Blast:CBS	629	678	1e-20	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000105788

SMART Domains

Protein: ENSMUSP00000101414
Gene: ENSMUSG00000006216

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	102	514	3.6e-72	PFAM
CBS	554	604	1.77e-2	SMART
Pfam:CBS	623	676	3.3e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135486

SMART Domains

Protein: ENSMUSP00000119059
Gene: ENSMUSG00000006216

Domain	Start	End	E-Value	Type
PDB:2PFI\|B	2	73	2e-28	PDB
Blast:CBS	28	64	8e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149247

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the CLC family of voltage-gated chloride channels. The gene is located adjacent to a highly similar chloride channel gene on chromosome 4. This gene is syntenic with human CLCNKA (geneID:1187). [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	T	C	9: 14,548,791	K884R	probably benign	Het
Ano3	T	A	2: 110,665,984		probably benign	Het
Baz2b	C	A	2: 59,968,658	S374I	possibly damaging	Het
Brd4	G	A	17: 32,198,379		probably benign	Het
Cd3g	C	A	9: 44,971,310		probably benign	Het
Ckmt1	C	T	2: 121,363,615		probably benign	Het
Dkkl1	C	T	7: 45,210,112		probably null	Het
Ehmt1	G	A	2: 24,863,869	T161I	probably damaging	Het
Ern2	A	G	7: 122,181,406		probably benign	Het
Fmnl2	T	C	2: 53,103,697	I368T	possibly damaging	Het
Gabra5	G	T	7: 57,507,991	S25Y	probably benign	Het
Gemin7	C	T	7: 19,565,419	V84M	probably null	Het
Gm17654	A	G	14: 43,578,199		probably benign	Het
Grk6	T	C	13: 55,451,543	F186S	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,889	H663R	probably damaging	Het
Gtf3c1	T	A	7: 125,676,512	I581F	probably damaging	Het
Herc2	T	A	7: 56,204,379		probably benign	Het
Hook3	A	T	8: 26,095,754		probably benign	Het
Ints4	T	A	7: 97,517,757		probably null	Het
Kpna6	T	C	4: 129,661,377	N20D	probably damaging	Het
Krtap29-1	T	C	11: 99,978,684	S124G	probably benign	Het
Krtap4-16	C	A	11: 99,851,280	R98L	possibly damaging	Het
Lrrc28	T	C	7: 67,531,683	D268G	probably damaging	Het
Mcm6	T	A	1: 128,343,472	Q470L	probably damaging	Het
Neb	T	C	2: 52,291,055	H1180R	probably benign	Het
Nxpe3	C	A	16: 55,860,375	V285L	probably benign	Het
Olfr118	T	A	17: 37,672,609	C195*	probably null	Het
Olfr1281	A	G	2: 111,329,288	R290G	probably damaging	Het
Olfr307	T	A	7: 86,335,544	N284I	probably damaging	Het
Pdcd1	A	G	1: 94,039,544		probably benign	Het
Pnkp	A	G	7: 44,860,187		probably benign	Het
Pou4f2	A	T	8: 78,435,063	F304I	probably damaging	Het
Rita1	G	A	5: 120,609,651	T194M	possibly damaging	Het
Rnpc3	T	C	3: 113,621,939	T150A	possibly damaging	Het
Sema3b	T	C	9: 107,603,164	T168A	probably benign	Het
Skint5	T	A	4: 113,539,362	M1205L	unknown	Het
Sox13	A	C	1: 133,383,796	I566S	probably benign	Het
Tbc1d32	T	C	10: 56,198,491	T209A	possibly damaging	Het
Tonsl	G	T	15: 76,633,389	P710Q	probably damaging	Het
Trpm5	T	C	7: 143,074,484	H1018R	possibly damaging	Het
Ubr2	A	T	17: 46,969,282	M647K	probably benign	Het
Ubr7	A	T	12: 102,771,278	T395S	possibly damaging	Het
Uri1	G	A	7: 37,967,481	R176*	probably null	Het
Vmn1r188	A	T	13: 22,088,730	I285F	probably damaging	Het
Vmn2r116	T	A	17: 23,397,634		probably benign	Het
Vmn2r2	C	A	3: 64,117,402	C586F	probably damaging	Het
Vmn2r96	T	A	17: 18,582,589	W62R	probably benign	Het
Zfp24	A	T	18: 24,017,353	S167T	possibly damaging	Het
Zfp462	A	G	4: 55,060,236	K1254R	probably null	Het

Other mutations in Clcnkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02430:Clcnkb	APN	4	141409390	missense	possibly damaging	0.85
IGL02894:Clcnkb	APN	4	141407819	missense	probably benign	0.00
R0193:Clcnkb	UTSW	4	141412316	missense	possibly damaging	0.60
R1427:Clcnkb	UTSW	4	141405309	missense	probably damaging	1.00
R1555:Clcnkb	UTSW	4	141411739	splice site	probably null
R1572:Clcnkb	UTSW	4	141407095	missense	possibly damaging	0.58
R1756:Clcnkb	UTSW	4	141415214	missense	possibly damaging	0.77
R1776:Clcnkb	UTSW	4	141415189	splice site	probably benign
R1879:Clcnkb	UTSW	4	141407819	missense	possibly damaging	0.95
R2149:Clcnkb	UTSW	4	141408017	missense	probably damaging	1.00
R2180:Clcnkb	UTSW	4	141409508	unclassified	probably null
R2307:Clcnkb	UTSW	4	141412329	missense	probably damaging	1.00
R4393:Clcnkb	UTSW	4	141412236	missense	probably benign	0.00
R4758:Clcnkb	UTSW	4	141407849	missense	probably benign	0.00
R5416:Clcnkb	UTSW	4	141413900	missense	probably benign	0.33
R5906:Clcnkb	UTSW	4	141412299	missense	probably benign
R6185:Clcnkb	UTSW	4	141414514	missense	probably benign	0.00
R6299:Clcnkb	UTSW	4	141410723	missense	probably damaging	1.00
R6803:Clcnkb	UTSW	4	141405328	missense	probably benign
R6877:Clcnkb	UTSW	4	141404832	missense	probably benign	0.00
R7205:Clcnkb	UTSW	4	141408635	missense	probably damaging	1.00
R7330:Clcnkb	UTSW	4	141410612	missense	possibly damaging	0.67
R7332:Clcnkb	UTSW	4	141413932	missense	probably null	0.83
R7393:Clcnkb	UTSW	4	141409445	missense	probably benign
R7800:Clcnkb	UTSW	4	141414522	missense	probably benign	0.16
R7889:Clcnkb	UTSW	4	141410604	missense	probably benign	0.00
R7972:Clcnkb	UTSW	4	141410604	missense	probably benign	0.00
Z1177:Clcnkb	UTSW	4	141407951	missense	probably damaging	0.96

Posted On

2015-04-16