Mutagenetix > Incidental Mutation

Incidental Mutation 'R4667:Clcn6'

352013

Institutional Source

Beutler Lab

Gene Symbol

Clcn6

Ensembl Gene

ENSMUSG00000029016

Gene Name

chloride channel, voltage-sensitive 6

Synonyms

MMRRC Submission

042012-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4667 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148004259-148038821 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148024167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 135 (E135G)

Ref Sequence

ENSEMBL: ENSMUSP00000121751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030879] [ENSMUST00000105711] [ENSMUST00000131232] [ENSMUST00000137724]

AlphaFold

O35454

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030879
AA Change: E132G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: E132G

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

possibly damaging
Transcript: ENSMUST00000105711
AA Change: E135G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: E135G

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: ENSMUST00000131232

SMART Domains

Protein: ENSMUSP00000116153
Gene: ENSMUSG00000029016

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134377

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137724
AA Change: E135G

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: E135G

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	G	T	17: 28,908,313	Q241K	possibly damaging	Het
Acad8	A	G	9: 26,990,627	L147P	probably damaging	Het
Adgra3	T	A	5: 49,978,956	Y729F	possibly damaging	Het
Ago2	A	G	15: 73,146,416	Y58H	probably damaging	Het
Akap13	A	G	7: 75,729,094	T2128A	probably damaging	Het
Akap2	A	T	4: 57,855,655	D328V	possibly damaging	Het
Ankhd1	C	A	18: 36,648,021	P2042Q	possibly damaging	Het
Arhgef15	T	C	11: 68,954,561	K155R	probably benign	Het
Atp10b	T	C	11: 43,247,518	F1209L	probably damaging	Het
B130006D01Rik	A	T	11: 95,726,509		probably benign	Het
Bmpr2	T	C	1: 59,867,716	L656S	probably damaging	Het
Btbd17	A	G	11: 114,793,857	F119L	possibly damaging	Het
Ccdc191	G	T	16: 43,931,283	K267N	probably damaging	Het
Ceacam20	T	C	7: 19,986,027	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528	I47V	probably benign	Het
Chd9	T	C	8: 91,033,800	S2058P	possibly damaging	Het
Cntn1	T	A	15: 92,295,079	N687K	probably damaging	Het
Col1a2	A	T	6: 4,512,412	M99L	unknown	Het
Cpeb2	T	C	5: 43,233,892		probably benign	Het
Csn1s2b	A	G	5: 87,822,311	T134A	possibly damaging	Het
Cst13	A	T	2: 148,823,081		probably benign	Het
Cyp2c66	T	A	19: 39,176,656	D360E	probably damaging	Het
Dhx8	A	G	11: 101,738,161	S179G	unknown	Het
Dip2b	A	G	15: 100,151,360	I212V	probably benign	Het
Dnah9	G	A	11: 66,155,531	H64Y	probably benign	Het
Dnal1	T	C	12: 84,136,700		probably benign	Het
Dse	T	G	10: 34,153,012	Y694S	probably damaging	Het
Dync2h1	T	C	9: 7,051,411	I3175V	probably benign	Het
Elf5	A	G	2: 103,449,060	N209D	probably damaging	Het
Elovl1	A	G	4: 118,430,787	Y40C	probably damaging	Het
Erp27	T	C	6: 136,908,152	E216G	possibly damaging	Het
F5	G	A	1: 164,174,186	V153I	probably benign	Het
Fam186a	G	A	15: 99,944,532	T1277I	possibly damaging	Het
Fam90a1a	A	T	8: 21,963,346	H239L	possibly damaging	Het
Fchsd2	G	T	7: 101,250,449	R334L	probably damaging	Het
Fermt3	T	C	19: 7,002,920	Y369C	probably damaging	Het
Fhod3	C	T	18: 25,066,338	P689S	probably benign	Het
Fnbp1l	G	T	3: 122,556,567	Q332K	probably benign	Het
Frem3	T	C	8: 80,663,420	S1767P	probably damaging	Het
Ggt5	T	C	10: 75,603,031	L121P	probably damaging	Het
Gm609	A	G	16: 45,444,163	S11P	probably benign	Het
Gphn	T	C	12: 78,454,817	S119P	probably damaging	Het
Herc2	A	G	7: 56,131,253	D1222G	probably damaging	Het
Hmx3	T	C	7: 131,544,382	I273T	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,181		probably benign	Het
Hspg2	C	T	4: 137,539,645	T1987I	possibly damaging	Het
Ighv1-22	T	A	12: 114,746,451	Q58L	probably damaging	Het
Ighv14-3	T	A	12: 114,060,255	I7F	probably benign	Het
Kcns3	C	A	12: 11,091,783	R305L	probably damaging	Het
Kcnu1	C	T	8: 25,910,921	A699V	possibly damaging	Het
Kif22	A	C	7: 127,033,328	L270W	probably damaging	Het
Lrp2	G	T	2: 69,489,298	H1960Q	probably benign	Het
March7	C	T	2: 60,241,050	Q94*	probably null	Het
Mcoln3	A	T	3: 146,131,204	I264F	probably benign	Het
Mdn1	A	C	4: 32,679,572	T706P	probably damaging	Het
Mfsd2b	A	G	12: 4,867,636	C137R	probably benign	Het
Mmp25	A	G	17: 23,644,607	V83A	probably benign	Het
Mocos	T	C	18: 24,666,434	Y242H	probably benign	Het
Msh6	T	C	17: 87,984,806	S330P	possibly damaging	Het
Mtus2	T	C	5: 148,298,260	S1156P	possibly damaging	Het
Muc5b	G	A	7: 141,842,379	R124H	unknown	Het
Mybbp1a	G	A	11: 72,447,971	E775K	possibly damaging	Het
Myo10	A	G	15: 25,793,153	E1272G	possibly damaging	Het
Nars	A	G	18: 64,505,231	S254P	possibly damaging	Het
Ncapd2	A	G	6: 125,184,518	I211T	possibly damaging	Het
Ncoa7	A	T	10: 30,690,790	W582R	probably damaging	Het
Npr3	T	A	15: 11,905,467	D58V	possibly damaging	Het
Nr3c1	G	T	18: 39,428,727	T430K	probably benign	Het
Odf2l	A	G	3: 145,128,040	T111A	probably benign	Het
Ogdh	G	T	11: 6,340,600	C406F	probably benign	Het
Olfml2a	T	G	2: 38,949,010	S190A	probably damaging	Het
Olfr148	T	C	9: 39,613,738	M57T	probably damaging	Het
Olfr243	A	G	7: 103,716,638	T15A	probably benign	Het
Olfr870	T	C	9: 20,171,098	I158V	probably benign	Het
Olfr965	G	T	9: 39,719,709	V161F	probably benign	Het
Optn	T	C	2: 5,033,139	K415E	probably benign	Het
Perm1	C	A	4: 156,220,206	S803*	probably null	Het
Pex14	T	C	4: 148,984,085	T84A	probably benign	Het
Pih1d2	T	A	9: 50,620,952	Y103*	probably null	Het
Pikfyve	T	A	1: 65,250,273	C1235S	probably damaging	Het
Polr1a	A	G	6: 71,917,821	N171S	probably benign	Het
Prrx1	A	G	1: 163,254,047	S201P	probably benign	Het
Psme2b	A	T	11: 48,945,666	N151K	probably benign	Het
Serpinb5	A	T	1: 106,872,295	T72S	probably benign	Het
Sgsm1	A	G	5: 113,260,047		probably null	Het
Sipa1l2	T	C	8: 125,453,470	R1063G	possibly damaging	Het
Slc19a3	T	C	1: 83,022,799	T166A	probably benign	Het
Slc5a4b	T	C	10: 76,075,045	Y319C	possibly damaging	Het
Stard3nl	T	A	13: 19,376,519	N29Y	probably damaging	Het
Sult6b2	G	T	6: 142,801,695	C109*	probably null	Het
Tcf25	A	G	8: 123,397,025	E467G	possibly damaging	Het
Tmem177	A	T	1: 119,910,220	V243D	probably benign	Het
Tmem2	G	A	19: 21,797,351	R119H	probably benign	Het
Tmem2	C	T	19: 21,844,781	A1180V	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Tspan11	T	A	6: 127,943,715	C208*	probably null	Het
Ttc1	A	G	11: 43,745,317	V33A	probably benign	Het
Uck1	T	A	2: 32,256,034	H283L	probably damaging	Het
Utrn	A	C	10: 12,698,053	V1091G	probably benign	Het
Vmn1r11	A	T	6: 57,137,498	H49L	probably damaging	Het
Vmn1r160	G	T	7: 22,872,053	S277I	probably benign	Het
Vmn1r18	A	T	6: 57,390,084	S162T	probably benign	Het
Vps37b	A	G	5: 124,010,732	L80P	probably damaging	Het
Wfdc3	T	C	2: 164,743,086	M1V	probably null	Het
Wrn	A	T	8: 33,324,338	N116K	probably benign	Het
Wscd2	G	T	5: 113,577,272	G391V	probably damaging	Het
Zcchc11	G	A	4: 108,495,159	E357K	probably damaging	Het
Zfp286	A	G	11: 62,780,602	V215A	probably benign	Het
Zfp568	A	G	7: 30,023,277	H549R	probably damaging	Het

Other mutations in Clcn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Clcn6	APN	4	148017902	critical splice donor site	probably null
IGL00434:Clcn6	APN	4	148013738	missense	probably damaging	1.00
IGL00973:Clcn6	APN	4	148013788	splice site	probably benign
IGL01384:Clcn6	APN	4	148018966	missense	probably damaging	1.00
IGL01465:Clcn6	APN	4	148021451	splice site	probably benign
IGL01522:Clcn6	APN	4	148017535	missense	probably benign	0.44
R0194:Clcn6	UTSW	4	148012756	missense	probably damaging	1.00
R0280:Clcn6	UTSW	4	148008715	missense	probably damaging	1.00
R0349:Clcn6	UTSW	4	148024194	missense	possibly damaging	0.89
R0352:Clcn6	UTSW	4	148014606	missense	probably damaging	1.00
R0586:Clcn6	UTSW	4	148038749	unclassified	probably benign
R0927:Clcn6	UTSW	4	148029392	missense	probably benign	0.30
R1141:Clcn6	UTSW	4	148013899	missense	probably damaging	0.99
R1465:Clcn6	UTSW	4	148013901	missense	probably damaging	1.00
R1465:Clcn6	UTSW	4	148013901	missense	probably damaging	1.00
R1473:Clcn6	UTSW	4	148024156	missense	possibly damaging	0.93
R1551:Clcn6	UTSW	4	148012778	missense	possibly damaging	0.74
R1571:Clcn6	UTSW	4	148012769	missense	possibly damaging	0.63
R1593:Clcn6	UTSW	4	148014594	missense	probably benign
R1596:Clcn6	UTSW	4	148023379	missense	probably damaging	1.00
R1706:Clcn6	UTSW	4	148017568	missense	probably benign	0.00
R1769:Clcn6	UTSW	4	148014301	splice site	probably null
R2021:Clcn6	UTSW	4	148010652	critical splice donor site	probably null
R2022:Clcn6	UTSW	4	148010652	critical splice donor site	probably null
R2049:Clcn6	UTSW	4	148024137	missense	possibly damaging	0.88
R2081:Clcn6	UTSW	4	148011068	missense	probably damaging	1.00
R2140:Clcn6	UTSW	4	148024137	missense	possibly damaging	0.88
R2141:Clcn6	UTSW	4	148024137	missense	possibly damaging	0.88
R2142:Clcn6	UTSW	4	148024137	missense	possibly damaging	0.88
R2177:Clcn6	UTSW	4	148014600	missense	possibly damaging	0.73
R2511:Clcn6	UTSW	4	148017494	critical splice donor site	probably null
R2891:Clcn6	UTSW	4	148012616	critical splice donor site	probably null
R3750:Clcn6	UTSW	4	148024187	nonsense	probably null
R4014:Clcn6	UTSW	4	148017610	missense	probably damaging	0.98
R4023:Clcn6	UTSW	4	148014283	missense	possibly damaging	0.91
R4024:Clcn6	UTSW	4	148014283	missense	possibly damaging	0.91
R4025:Clcn6	UTSW	4	148014283	missense	possibly damaging	0.91
R4865:Clcn6	UTSW	4	148019766	missense	probably damaging	1.00
R4978:Clcn6	UTSW	4	148008770	missense	probably benign	0.05
R5140:Clcn6	UTSW	4	148038317	unclassified	probably benign
R5345:Clcn6	UTSW	4	148038749	unclassified	probably benign
R5467:Clcn6	UTSW	4	148017636	missense	possibly damaging	0.81
R5665:Clcn6	UTSW	4	148014561	missense	possibly damaging	0.71
R5739:Clcn6	UTSW	4	148014189	missense	probably damaging	1.00
R5899:Clcn6	UTSW	4	148017592	missense	probably benign	0.01
R6043:Clcn6	UTSW	4	148008788	missense	probably damaging	1.00
R6351:Clcn6	UTSW	4	148017500	missense	probably benign	0.01
R6593:Clcn6	UTSW	4	148010769	missense	probably benign	0.21
R7440:Clcn6	UTSW	4	148014195	missense	probably damaging	1.00
R7674:Clcn6	UTSW	4	148012694	missense	probably damaging	1.00
R7756:Clcn6	UTSW	4	148029439	missense	probably damaging	1.00
R7901:Clcn6	UTSW	4	148010745	missense	probably damaging	1.00
R8559:Clcn6	UTSW	4	148026575	missense	possibly damaging	0.88
R8747:Clcn6	UTSW	4	148008897	critical splice donor site	probably null
R9246:Clcn6	UTSW	4	148029409	missense	probably benign	0.25
R9343:Clcn6	UTSW	4	148014001	missense	probably benign	0.03
V7732:Clcn6	UTSW	4	148013955	missense	probably damaging	0.96
Z1177:Clcn6	UTSW	4	148023370	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCCGTAAGCCTCATGTACC -3'
(R):5'- TGAGTTCTAGGACAGCCAAGGC -3'

Sequencing Primer
(F):5'- TCAAGGCCAGCAGGATTAGTTTC -3'
(R):5'- CCAAGGCGACAGAGAAAGAC -3'

Posted On

2015-10-08