Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01465:Clcn6'

88100

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clcn6

Ensembl Gene

ENSMUSG00000029016

Gene Name

chloride channel, voltage-sensitive 6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL01465

Quality Score

Status

Chromosome

Chromosomal Location

148088716-148123270 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 148105908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030879] [ENSMUST00000105711] [ENSMUST00000137724]

AlphaFold

O35454

Predicted Effect

probably benign
Transcript: ENSMUST00000030879

SMART Domains

Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
Pfam:Voltage_CLC	138	571	5.5e-98	PFAM
CBS	609	658	1.68e-3	SMART
CBS	811	859	1.34e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105711

SMART Domains

Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
Pfam:Voltage_CLC	141	574	1.5e-98	PFAM
CBS	612	661	1.68e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134377

Predicted Effect

probably benign
Transcript: ENSMUST00000137724

SMART Domains

Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
Pfam:Voltage_CLC	141	574	1.9e-101	PFAM
CBS	612	661	1.68e-3	SMART
CBS	814	862	1.34e-11	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the ClC chloride channel and transporter family of proteins. The encoded protein may function as a vesicular Cl-/H+ antiporter. Homozygous knockout mice exhibit decreased pain sensitivity, behavioral abnormalities and features of lysosomal storage disease. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired nociception, mild behavioral abnormalities, and a progressive neuropathy of the central and peripheral nervous systems with features of neuronal ceroid lipofuscinosis (a lysosomal storage disease). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,114,838 (GRCm39)		probably null	Het
Abracl	A	T	10: 17,887,399 (GRCm39)	I76N	probably damaging	Het
Akap12	C	T	10: 4,306,886 (GRCm39)	T1232I	probably damaging	Het
Cpsf2	C	A	12: 101,963,592 (GRCm39)	D440E	probably damaging	Het
Csf2ra	A	G	19: 61,214,436 (GRCm39)	V243A	possibly damaging	Het
Cyp4f18	T	A	8: 72,756,288 (GRCm39)	H96L	probably benign	Het
Dvl2	T	A	11: 69,897,180 (GRCm39)	I294N	probably damaging	Het
Fbn2	T	A	18: 58,336,905 (GRCm39)	N117Y	probably null	Het
Gdpd3	A	G	7: 126,367,829 (GRCm39)	I221V	possibly damaging	Het
Grk2	A	T	19: 4,340,886 (GRCm39)	C221S	probably damaging	Het
Idi1	T	C	13: 8,940,415 (GRCm39)	I199T	probably benign	Het
Klhl6	T	C	16: 19,801,572 (GRCm39)	E61G	probably damaging	Het
Lig1	T	A	7: 13,030,317 (GRCm39)	S431R	probably benign	Het
Lrg1	T	C	17: 56,427,705 (GRCm39)	E89G	probably benign	Het
Lrrk2	A	G	15: 91,613,128 (GRCm39)	K751E	probably benign	Het
Macf1	T	A	4: 123,384,514 (GRCm39)	T1128S	probably benign	Het
Nphs1	T	C	7: 30,186,139 (GRCm39)	*1243R	probably null	Het
Rere	G	A	4: 150,594,451 (GRCm39)	V354I	unknown	Het
Safb	A	G	17: 56,909,974 (GRCm39)		probably benign	Het
Slc2a10	C	A	2: 165,359,597 (GRCm39)	A487D	possibly damaging	Het
Slc7a12	T	A	3: 14,564,383 (GRCm39)	S85R	possibly damaging	Het
Sorbs3	G	A	14: 70,432,958 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,600,135 (GRCm39)	M19013T	probably damaging	Het
Utp4	A	G	8: 107,621,330 (GRCm39)	T36A	probably benign	Het
Vmn2r111	A	T	17: 22,767,718 (GRCm39)	F593Y	probably benign	Het

Other mutations in Clcn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Clcn6	APN	4	148,102,359 (GRCm39)	critical splice donor site	probably null
IGL00434:Clcn6	APN	4	148,098,195 (GRCm39)	missense	probably damaging	1.00
IGL00973:Clcn6	APN	4	148,098,245 (GRCm39)	splice site	probably benign
IGL01384:Clcn6	APN	4	148,103,423 (GRCm39)	missense	probably damaging	1.00
IGL01522:Clcn6	APN	4	148,101,992 (GRCm39)	missense	probably benign	0.44
R0194:Clcn6	UTSW	4	148,097,213 (GRCm39)	missense	probably damaging	1.00
R0280:Clcn6	UTSW	4	148,093,172 (GRCm39)	missense	probably damaging	1.00
R0349:Clcn6	UTSW	4	148,108,651 (GRCm39)	missense	possibly damaging	0.89
R0352:Clcn6	UTSW	4	148,099,063 (GRCm39)	missense	probably damaging	1.00
R0586:Clcn6	UTSW	4	148,123,206 (GRCm39)	unclassified	probably benign
R0927:Clcn6	UTSW	4	148,113,849 (GRCm39)	missense	probably benign	0.30
R1141:Clcn6	UTSW	4	148,098,356 (GRCm39)	missense	probably damaging	0.99
R1465:Clcn6	UTSW	4	148,098,358 (GRCm39)	missense	probably damaging	1.00
R1465:Clcn6	UTSW	4	148,098,358 (GRCm39)	missense	probably damaging	1.00
R1473:Clcn6	UTSW	4	148,108,613 (GRCm39)	missense	possibly damaging	0.93
R1551:Clcn6	UTSW	4	148,097,235 (GRCm39)	missense	possibly damaging	0.74
R1571:Clcn6	UTSW	4	148,097,226 (GRCm39)	missense	possibly damaging	0.63
R1593:Clcn6	UTSW	4	148,099,051 (GRCm39)	missense	probably benign
R1596:Clcn6	UTSW	4	148,107,836 (GRCm39)	missense	probably damaging	1.00
R1706:Clcn6	UTSW	4	148,102,025 (GRCm39)	missense	probably benign	0.00
R1769:Clcn6	UTSW	4	148,098,758 (GRCm39)	splice site	probably null
R2021:Clcn6	UTSW	4	148,095,109 (GRCm39)	critical splice donor site	probably null
R2022:Clcn6	UTSW	4	148,095,109 (GRCm39)	critical splice donor site	probably null
R2049:Clcn6	UTSW	4	148,108,594 (GRCm39)	missense	possibly damaging	0.88
R2081:Clcn6	UTSW	4	148,095,525 (GRCm39)	missense	probably damaging	1.00
R2140:Clcn6	UTSW	4	148,108,594 (GRCm39)	missense	possibly damaging	0.88
R2141:Clcn6	UTSW	4	148,108,594 (GRCm39)	missense	possibly damaging	0.88
R2142:Clcn6	UTSW	4	148,108,594 (GRCm39)	missense	possibly damaging	0.88
R2177:Clcn6	UTSW	4	148,099,057 (GRCm39)	missense	possibly damaging	0.73
R2511:Clcn6	UTSW	4	148,101,951 (GRCm39)	critical splice donor site	probably null
R2891:Clcn6	UTSW	4	148,097,073 (GRCm39)	critical splice donor site	probably null
R3750:Clcn6	UTSW	4	148,108,644 (GRCm39)	nonsense	probably null
R4014:Clcn6	UTSW	4	148,102,067 (GRCm39)	missense	probably damaging	0.98
R4023:Clcn6	UTSW	4	148,098,740 (GRCm39)	missense	possibly damaging	0.91
R4024:Clcn6	UTSW	4	148,098,740 (GRCm39)	missense	possibly damaging	0.91
R4025:Clcn6	UTSW	4	148,098,740 (GRCm39)	missense	possibly damaging	0.91
R4667:Clcn6	UTSW	4	148,108,624 (GRCm39)	missense	possibly damaging	0.61
R4865:Clcn6	UTSW	4	148,104,223 (GRCm39)	missense	probably damaging	1.00
R4978:Clcn6	UTSW	4	148,093,227 (GRCm39)	missense	probably benign	0.05
R5140:Clcn6	UTSW	4	148,122,774 (GRCm39)	unclassified	probably benign
R5345:Clcn6	UTSW	4	148,123,206 (GRCm39)	unclassified	probably benign
R5467:Clcn6	UTSW	4	148,102,093 (GRCm39)	missense	possibly damaging	0.81
R5665:Clcn6	UTSW	4	148,099,018 (GRCm39)	missense	possibly damaging	0.71
R5739:Clcn6	UTSW	4	148,098,646 (GRCm39)	missense	probably damaging	1.00
R5899:Clcn6	UTSW	4	148,102,049 (GRCm39)	missense	probably benign	0.01
R6043:Clcn6	UTSW	4	148,093,245 (GRCm39)	missense	probably damaging	1.00
R6351:Clcn6	UTSW	4	148,101,957 (GRCm39)	missense	probably benign	0.01
R6593:Clcn6	UTSW	4	148,095,226 (GRCm39)	missense	probably benign	0.21
R7440:Clcn6	UTSW	4	148,098,652 (GRCm39)	missense	probably damaging	1.00
R7674:Clcn6	UTSW	4	148,097,151 (GRCm39)	missense	probably damaging	1.00
R7756:Clcn6	UTSW	4	148,113,896 (GRCm39)	missense	probably damaging	1.00
R7901:Clcn6	UTSW	4	148,095,202 (GRCm39)	missense	probably damaging	1.00
R8559:Clcn6	UTSW	4	148,111,032 (GRCm39)	missense	possibly damaging	0.88
R8747:Clcn6	UTSW	4	148,093,354 (GRCm39)	critical splice donor site	probably null
R9246:Clcn6	UTSW	4	148,113,866 (GRCm39)	missense	probably benign	0.25
R9343:Clcn6	UTSW	4	148,098,458 (GRCm39)	missense	probably benign	0.03
V7732:Clcn6	UTSW	4	148,098,412 (GRCm39)	missense	probably damaging	0.96
Z1177:Clcn6	UTSW	4	148,107,827 (GRCm39)	nonsense	probably null

Posted On

2013-11-18