Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Clcn6'

265953

Institutional Source

Beutler Lab

Gene Symbol

Clcn6

Ensembl Gene

ENSMUSG00000029016

Gene Name

chloride channel, voltage-sensitive 6

Synonyms

MMRRC Submission

039800-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1769 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

148088716-148123270 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 148098758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121751 (fasta)

Gene Model

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

AlphaFold

O35454

Predicted Effect

probably null
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 null
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: 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 null
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

Predicted Effect

probably null
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

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,644,519 (GRCm39)	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325 (GRCm39)	K1119N	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Abcc9	T	C	6: 142,573,194 (GRCm39)		probably benign	Het
Akap3	A	G	6: 126,842,809 (GRCm39)	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,968,740 (GRCm39)	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ascc3	T	C	10: 50,576,586 (GRCm39)	V847A	probably damaging	Het
Best3	A	G	10: 116,859,883 (GRCm39)	N381S	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Bmpr2	T	A	1: 59,907,520 (GRCm39)	L871Q	probably damaging	Het
Car13	T	A	3: 14,715,795 (GRCm39)	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 51,029,568 (GRCm39)	M165V	probably benign	Het
Cd4	A	T	6: 124,843,618 (GRCm39)	M431K	possibly damaging	Het
Cdh20	C	T	1: 109,980,606 (GRCm39)	T178I	probably damaging	Het
Ceacam3	C	T	7: 16,892,301 (GRCm39)	T348I	probably damaging	Het
Cfap54	C	T	10: 92,740,125 (GRCm39)		probably null	Het
Csf3	A	G	11: 98,593,246 (GRCm39)	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,567,505 (GRCm39)		probably benign	Het
Cyp2c69	A	G	19: 39,864,815 (GRCm39)	I221T	probably benign	Het
Dgcr2	T	C	16: 17,675,115 (GRCm39)		probably benign	Het
Dhcr7	T	C	7: 143,401,250 (GRCm39)	F474S	probably damaging	Het
Dnah1	T	C	14: 31,032,839 (GRCm39)	I399V	probably null	Het
Efcab14	T	A	4: 115,610,188 (GRCm39)	L183Q	probably damaging	Het
Evx2	A	G	2: 74,489,501 (GRCm39)	V88A	probably benign	Het
Exph5	A	G	9: 53,285,109 (GRCm39)	N730S	probably benign	Het
Farsb	T	A	1: 78,443,620 (GRCm39)	K196I	probably benign	Het
Fbln7	C	T	2: 128,735,682 (GRCm39)		probably benign	Het
Fhdc1	A	G	3: 84,356,085 (GRCm39)	F453S	probably damaging	Het
Gast	T	A	11: 100,227,684 (GRCm39)	W89R	probably damaging	Het
Gata2	A	G	6: 88,182,237 (GRCm39)	S402G	probably benign	Het
Gin1	T	A	1: 97,720,162 (GRCm39)	S386T	probably benign	Het
Golgb1	A	G	16: 36,736,363 (GRCm39)	E1870G	probably damaging	Het
Hivep3	T	A	4: 119,954,768 (GRCm39)	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,756,326 (GRCm39)	R486*	probably null	Het
Ifi209	G	A	1: 173,468,728 (GRCm39)	S186N	probably benign	Het
Ifih1	C	T	2: 62,436,738 (GRCm39)	A562T	probably damaging	Het
Itch	T	C	2: 155,014,481 (GRCm39)	L106S	probably damaging	Het
Itga4	T	A	2: 79,146,050 (GRCm39)		probably null	Het
Kdm4c	A	G	4: 74,199,234 (GRCm39)	S141G	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klra3	T	C	6: 130,307,226 (GRCm39)		probably null	Het
Lama2	G	C	10: 27,084,403 (GRCm39)	F922L	probably benign	Het
Lama2	A	T	10: 27,084,402 (GRCm39)	S923T	probably damaging	Het
Llgl1	G	A	11: 60,597,873 (GRCm39)	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,938,676 (GRCm39)	*301W	probably null	Het
Map1lc3b	C	T	8: 122,320,226 (GRCm39)		probably benign	Het
Mbd2	A	G	18: 70,749,690 (GRCm39)	I302V	probably benign	Het
Med27	A	G	2: 29,390,307 (GRCm39)	Y78C	probably damaging	Het
Mei1	C	T	15: 81,996,771 (GRCm39)		probably null	Het
Mideas	G	A	12: 84,205,124 (GRCm39)		probably benign	Het
Miga1	T	C	3: 151,993,191 (GRCm39)	E346G	probably damaging	Het
Myef2	A	G	2: 124,957,363 (GRCm39)	S131P	probably damaging	Het
Myocd	T	C	11: 65,069,527 (GRCm39)	H899R	probably benign	Het
Ncam1	A	G	9: 49,456,556 (GRCm39)		probably benign	Het
Ngf	T	A	3: 102,427,513 (GRCm39)	N87K	possibly damaging	Het
Nol10	T	A	12: 17,466,709 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,385,231 (GRCm39)	I221V	probably benign	Het
Nup205	G	A	6: 35,182,366 (GRCm39)	G777D	probably damaging	Het
Or5ac17	A	G	16: 59,036,344 (GRCm39)	F211L	probably benign	Het
Or5b96	A	G	19: 12,867,047 (GRCm39)	V298A	probably damaging	Het
Or6c1	T	A	10: 129,518,081 (GRCm39)	T176S	probably benign	Het
Or7g35	A	T	9: 19,496,682 (GRCm39)	Q283L	probably damaging	Het
Or8d6	G	T	9: 39,854,251 (GRCm39)	D232Y	probably benign	Het
Oxt	A	T	2: 130,418,220 (GRCm39)	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,603,246 (GRCm39)	S2248P	probably benign	Het
Pias1	A	G	9: 62,859,460 (GRCm39)	V16A	probably damaging	Het
Pkp2	T	C	16: 16,080,561 (GRCm39)	S616P	probably damaging	Het
Plch2	T	C	4: 155,084,540 (GRCm39)	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,104,159 (GRCm39)	N540D	probably benign	Het
Ptpn23	G	A	9: 110,220,746 (GRCm39)	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,835,703 (GRCm39)	N237D	probably benign	Het
Ryr3	A	C	2: 112,582,113 (GRCm39)		probably null	Het
Sgk1	C	A	10: 21,873,007 (GRCm39)		probably benign	Het
Slc1a5	G	T	7: 16,531,464 (GRCm39)	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,755,326 (GRCm39)	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,755,328 (GRCm39)	Y478*	probably null	Het
Slc9a3	A	T	13: 74,311,190 (GRCm39)	M562L	probably benign	Het
Spmip4	A	G	6: 50,568,801 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,555,714 (GRCm39)	R57*	probably null	Het
Tiam1	T	C	16: 89,657,167 (GRCm39)	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,727,365 (GRCm39)	S47P	probably damaging	Het
Trim39	C	T	17: 36,574,832 (GRCm39)	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,085,073 (GRCm39)	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,873,003 (GRCm39)	T3304A	probably benign	Het
Wdr35	A	C	12: 9,062,728 (GRCm39)	D638A	probably damaging	Het
Wwc1	G	T	11: 35,752,671 (GRCm39)	P797T	probably benign	Het
Zan	T	A	5: 137,462,780 (GRCm39)	T800S	unknown	Het
Zbbx	A	G	3: 74,990,926 (GRCm39)		probably benign	Het
Zup1	T	C	10: 33,811,172 (GRCm39)	M291V	probably damaging	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
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
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

Predicted Primers

Posted On

2015-02-05