Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00973:Clcn6'

27339

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: 0.083) question?

Stock #

IGL00973

Quality Score

Status

Chromosome

Chromosomal Location

148088716-148123270 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 148098245 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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10a	G	T	7: 58,457,218 (GRCm39)	D906Y	probably damaging	Het
Cdh18	A	G	15: 23,173,882 (GRCm39)	K32R	probably damaging	Het
Chtf18	G	A	17: 25,941,090 (GRCm39)	A636V	probably benign	Het
Dspp	A	C	5: 104,324,758 (GRCm39)	K374Q	possibly damaging	Het
Ehmt2	C	T	17: 35,129,791 (GRCm39)	R962C	probably damaging	Het
Frrs1l	T	C	4: 56,972,369 (GRCm39)	K111E	probably damaging	Het
Galnt5	A	G	2: 57,888,951 (GRCm39)	T184A	probably benign	Het
Glud1	C	T	14: 34,041,899 (GRCm39)	T169I	probably damaging	Het
Hinfp	T	G	9: 44,209,436 (GRCm39)	D283A	probably benign	Het
Hmcn2	C	T	2: 31,273,833 (GRCm39)		probably benign	Het
Hs6st3	A	T	14: 120,106,819 (GRCm39)	Y409F	possibly damaging	Het
Ighv15-2	A	T	12: 114,528,490 (GRCm39)	V20D	possibly damaging	Het
Kif17	A	G	4: 138,002,368 (GRCm39)	T91A	probably benign	Het
Mical3	T	C	6: 120,911,885 (GRCm39)		probably benign	Het
Myo1e	C	T	9: 70,246,069 (GRCm39)	T420M	probably damaging	Het
Or8b12c	C	A	9: 37,716,078 (GRCm39)	S290R	probably damaging	Het
Ovgp1	T	A	3: 105,888,593 (GRCm39)	Y316*	probably null	Het
Plekha1	T	A	7: 130,512,743 (GRCm39)	V313D	probably damaging	Het
Polr1e	C	A	4: 45,031,364 (GRCm39)		probably benign	Het
Prdm15	A	T	16: 97,607,367 (GRCm39)		probably benign	Het
Ptpn4	T	A	1: 119,669,101 (GRCm39)	M250L	probably benign	Het
Rtn1	A	T	12: 72,455,285 (GRCm39)	L14Q	probably benign	Het
Sec24a	T	C	11: 51,620,404 (GRCm39)		probably null	Het
Sox7	A	G	14: 64,185,636 (GRCm39)	H224R	probably benign	Het
Styxl2	T	C	1: 165,927,027 (GRCm39)	S862G	probably benign	Het
Sucla2	T	C	14: 73,828,347 (GRCm39)	I318T	possibly damaging	Het
Tubb4b-ps1	A	G	5: 7,229,408 (GRCm39)		probably benign	Het
Ube2o	T	A	11: 116,432,031 (GRCm39)	K940M	probably damaging	Het
Usp20	A	C	2: 30,894,962 (GRCm39)	N149T	probably damaging	Het
Utp6	C	T	11: 79,846,531 (GRCm39)	W150*	probably null	Het
Wdr27	A	C	17: 15,134,140 (GRCm39)	H475Q	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
IGL01384:Clcn6	APN	4	148,103,423 (GRCm39)	missense	probably damaging	1.00
IGL01465:Clcn6	APN	4	148,105,908 (GRCm39)	splice site	probably benign
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

2013-04-17