Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Clcn6'

514229

Institutional Source

Beutler Lab

Gene Symbol

Clcn6

Ensembl Gene

ENSMUSG00000029016

Gene Name

chloride channel, voltage-sensitive 6

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R6351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148004259-148038821 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 148017500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 376 (V376I)

Ref Sequence

ENSEMBL: ENSMUSP00000121751 (fasta)

Gene Model

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

AlphaFold

O35454

Predicted Effect

probably benign
Transcript: ENSMUST00000030879
AA Change: V373I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: V373I

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
AA Change: V376I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: V376I

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
AA Change: V376I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: V376I

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	C	T	19: 11,142,401	G14D	probably damaging	Het
4932438A13Rik	G	A	3: 36,908,228	A493T	probably damaging	Het
Acaa1a	C	A	9: 119,341,564	S17*	probably null	Het
Adamts16	T	A	13: 70,836,203	S114C	probably damaging	Het
Agpat5	T	C	8: 18,846,708	V50A	probably benign	Het
Agrn	T	C	4: 156,179,434	N124S	probably benign	Het
AI481877	T	C	4: 59,069,317	D703G	probably benign	Het
Ak8	T	C	2: 28,735,626	I227T	probably benign	Het
Akap6	A	G	12: 53,142,025	E2074G	probably damaging	Het
Apc	T	A	18: 34,312,212	S702R	probably damaging	Het
Ascc3	T	C	10: 50,720,673	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,385,832	F318I	probably damaging	Het
Bnc2	T	C	4: 84,293,143	T397A	probably benign	Het
Bpifb4	C	T	2: 153,957,134	T528I	probably damaging	Het
Brinp3	A	G	1: 146,901,585	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,385,135	S372P	probably benign	Het
Cdhr2	A	G	13: 54,726,776	H887R	probably benign	Het
Cntln	T	G	4: 85,115,354	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,892,644	D1564G	probably benign	Het
Cux1	A	T	5: 136,309,792	S582T	probably damaging	Het
Cwh43	G	A	5: 73,411,905	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,086,769	F781L	probably damaging	Het
Dsc3	G	T	18: 19,966,291	H723N	probably benign	Het
Ear10	A	T	14: 43,923,055	V105D	probably damaging	Het
Ecel1	A	G	1: 87,149,509	V659A	possibly damaging	Het
Eogt	A	T	6: 97,120,194	F316I	probably damaging	Het
Etaa1	T	C	11: 17,947,188	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,469,708	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,941,742	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,977,599	Y178H	probably damaging	Het
Fat1	A	T	8: 45,033,495	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,938,398	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,992,684	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,413,780	T299A	probably damaging	Het
Gbp11	T	C	5: 105,327,598	T295A	probably benign	Het
Glcci1	C	T	6: 8,573,203	Q44*	probably null	Het
Gpc5	A	T	14: 115,399,200	T432S	probably benign	Het
Grhl1	G	A	12: 24,584,858	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,709		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ints9	A	G	14: 64,993,007	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,375,112	N130I	probably damaging	Het
Krba1	T	C	6: 48,414,128	V717A	probably benign	Het
Lrp12	T	A	15: 39,878,188	D377V	probably damaging	Het
Magi1	G	T	6: 93,943,229	D135E	possibly damaging	Het
Map10	T	A	8: 125,671,245	L459Q	probably damaging	Het
Mitf	A	G	6: 98,003,912	D238G	possibly damaging	Het
Mylk	G	T	16: 34,921,971	R951L	probably benign	Het
Nacad	T	A	11: 6,599,235	D1272V	probably damaging	Het
Nacad	T	A	11: 6,600,165	K1009*	probably null	Het
Ncor1	T	C	11: 62,373,298	D786G	probably benign	Het
Oas2	G	A	5: 120,748,538	R188C	probably benign	Het
Odf2l	A	G	3: 145,135,718	I300V	probably benign	Het
Olfr1502	A	G	19: 13,861,822	T10A	probably benign	Het
Olfr338	T	A	2: 36,377,196	V140D	possibly damaging	Het
Olfr484	A	G	7: 108,124,430	S278P	probably damaging	Het
Olfr624	A	G	7: 103,670,956	I25T	possibly damaging	Het
Olfr64	A	T	7: 103,893,135	L200*	probably null	Het
Pes1	T	A	11: 3,978,865	D574E	probably benign	Het
Phf20	C	T	2: 156,294,210	R650C	possibly damaging	Het
Pias4	G	A	10: 81,157,264	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,211,951	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,102,167		probably null	Het
Plekha7	A	G	7: 116,176,898	F194L	probably damaging	Het
Plxnb2	T	C	15: 89,157,770	N1642S	possibly damaging	Het
Pnpla7	A	T	2: 25,011,564	D534V	probably damaging	Het
Ppp2r5c	A	T	12: 110,554,879	S279C	probably damaging	Het
Ptprq	T	A	10: 107,708,668	T334S	probably damaging	Het
Rab39	T	C	9: 53,686,521	D148G	probably benign	Het
Reep3	A	T	10: 67,034,653	F121L	probably benign	Het
Reln	G	T	5: 21,901,663	C3236*	probably null	Het
Rrp8	C	T	7: 105,734,809	C162Y	probably damaging	Het
Scrib	C	A	15: 76,064,986	Q399H	possibly damaging	Het
Sertad1	T	A	7: 27,489,799	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,201,824	V63A	possibly damaging	Het
Slc46a1	T	C	11: 78,467,159	M346T	probably benign	Het
Sycp2	A	G	2: 178,363,416	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,874,759	I105F	probably benign	Het
Thumpd1	A	T	7: 119,720,605	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,127,853	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 69,773,401	C85S	probably damaging	Het
Tox	T	C	4: 6,697,439	T455A	probably benign	Het
Tox	T	C	4: 6,741,536	Q148R	probably benign	Het
Trp53bp1	A	C	2: 121,269,945	S109R	probably damaging	Het
Tshz2	A	T	2: 169,884,968	T26S	probably benign	Het
Tubb4a	T	A	17: 57,081,016	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,401,388	V119E	probably damaging	Het
Unk	C	T	11: 116,054,946	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,601,278	T44I	probably benign	Het
Vstm5	G	A	9: 15,257,533	G131D	probably damaging	Het
Wscd1	T	C	11: 71,759,883	L12P	probably damaging	Het
Zfp369	T	A	13: 65,296,230	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,009,343	C302*	probably null	Het
Zfp972	A	T	2: 177,906,935		probably null	Het
Zfyve21	C	A	12: 111,827,594	A212E	probably benign	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
R4667:Clcn6	UTSW	4	148024167	missense	possibly damaging	0.61
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
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'- TGAGCCACCTAGCCACTCAG -3'
(R):5'- CTGTGCTCATGGCCACTCTG -3'

Sequencing Primer
(F):5'- ACTCAGATGTAAACTCAGTCTCAG -3'
(R):5'- GCTCATGGCCACTCTGGTTTTTC -3'

Posted On

2018-04-27