Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01473:Clcn1'

88346

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clcn1

Ensembl Gene

ENSMUSG00000029862

Gene Name

chloride channel, voltage-sensitive 1

Synonyms

Clc1, SMCC1, NMF355, Clc-1, nmf355

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01473

Quality Score

Status

Chromosome

Chromosomal Location

42263619-42292690 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42268637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 181 (A181D)

Ref Sequence

ENSEMBL: ENSMUSP00000126045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031894] [ENSMUST00000164091] [ENSMUST00000168660]

AlphaFold

Q64347

Predicted Effect

probably damaging
Transcript: ENSMUST00000031894
AA Change: A214D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031894
Gene: ENSMUSG00000029862
AA Change: A214D

Domain	Start	End	E-Value	Type
low complexity region	121	130	N/A	INTRINSIC
Pfam:Voltage_CLC	170	572	3.2e-87	PFAM
Blast:CBS	612	662	1e-24	BLAST
low complexity region	723	747	N/A	INTRINSIC
Blast:CBS	830	877	4e-19	BLAST
low complexity region	928	950	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000163936
AA Change: A184D

SMART Domains

Protein: ENSMUSP00000130148
Gene: ENSMUSG00000029862
AA Change: A184D

Domain	Start	End	E-Value	Type
low complexity region	92	101	N/A	INTRINSIC
Pfam:Voltage_CLC	141	261	1.2e-27	PFAM
Pfam:Voltage_CLC	258	501	3.9e-44	PFAM
PDB:2D4Z\|B	520	807	2e-47	PDB
Blast:CBS	541	591	2e-24	BLAST
Blast:CBS	759	806	3e-19	BLAST
low complexity region	857	879	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164091
AA Change: A214D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131354
Gene: ENSMUSG00000029862
AA Change: A214D

Domain	Start	End	E-Value	Type
low complexity region	121	130	N/A	INTRINSIC
Pfam:Voltage_CLC	170	256	2.9e-20	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000165780
AA Change: A184D

SMART Domains

Protein: ENSMUSP00000130550
Gene: ENSMUSG00000029862
AA Change: A184D

Domain	Start	End	E-Value	Type
low complexity region	92	101	N/A	INTRINSIC
Pfam:Voltage_CLC	141	227	9.7e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168660
AA Change: A181D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126045
Gene: ENSMUSG00000029862
AA Change: A181D

Domain	Start	End	E-Value	Type
low complexity region	88	97	N/A	INTRINSIC
Pfam:Voltage_CLC	136	257	1.1e-22	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000169024
AA Change: A184D

SMART Domains

Protein: ENSMUSP00000130968
Gene: ENSMUSG00000029862
AA Change: A184D

Domain	Start	End	E-Value	Type
low complexity region	92	101	N/A	INTRINSIC
Pfam:Voltage_CLC	141	261	2.9e-24	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000170028
AA Change: A184D

SMART Domains

Protein: ENSMUSP00000132154
Gene: ENSMUSG00000029862
AA Change: A184D

Domain	Start	End	E-Value	Type
low complexity region	92	101	N/A	INTRINSIC
Pfam:Voltage_CLC	141	235	8e-22	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mutant mice exhibit mild to severe spasms of the hind limbs and abnormal hind limb reflexes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	T	C	16: 29,135,542 (GRCm39)	Y350C	probably damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cylc1	G	T	X: 110,166,449 (GRCm39)	K243N	unknown	Het
Dsp	A	G	13: 38,351,547 (GRCm39)	Y122C	probably damaging	Het
Exoc5	A	G	14: 49,251,751 (GRCm39)	V665A	possibly damaging	Het
Fcho1	G	A	8: 72,164,782 (GRCm39)	P500S	probably benign	Het
Flg2	A	G	3: 93,110,327 (GRCm39)	E785G	unknown	Het
Fpr1	A	G	17: 18,097,954 (GRCm39)	S12P	possibly damaging	Het
Hydin	G	T	8: 111,081,585 (GRCm39)	G327V	probably damaging	Het
Hydin	A	T	8: 111,038,792 (GRCm39)	M177L	probably benign	Het
Itga10	G	A	3: 96,554,957 (GRCm39)	G97E	probably damaging	Het
Khdc1c	T	A	1: 21,439,130 (GRCm39)	Y39N	possibly damaging	Het
Lrp1b	T	G	2: 40,501,498 (GRCm39)	T202P	probably damaging	Het
Marchf10	T	C	11: 105,280,431 (GRCm39)	K618R	probably damaging	Het
Mdc1	C	A	17: 36,158,912 (GRCm39)	L431I	probably benign	Het
Mmp17	A	G	5: 129,683,472 (GRCm39)	D536G	probably benign	Het
Myh8	G	A	11: 67,192,651 (GRCm39)		probably null	Het
Odad3	C	A	9: 21,906,675 (GRCm39)		probably null	Het
Pop4	A	G	7: 37,963,820 (GRCm39)	V154A	probably benign	Het
Ppp1r13l	C	T	7: 19,109,193 (GRCm39)	R608C	probably damaging	Het
Prss36	T	C	7: 127,543,873 (GRCm39)	H166R	probably damaging	Het
Rab11fip3	C	T	17: 26,287,709 (GRCm39)	R148Q	possibly damaging	Het
Rbm39	T	A	2: 156,014,899 (GRCm39)	R49*	probably null	Het
S100a11	T	C	3: 93,433,413 (GRCm39)	C86R	probably damaging	Het
Skint7	T	C	4: 111,839,402 (GRCm39)	I232T	probably damaging	Het
Smchd1	G	A	17: 71,696,745 (GRCm39)	T1210I	probably benign	Het
Speg	C	T	1: 75,404,929 (GRCm39)	T2907I	possibly damaging	Het
Spz1	A	T	13: 92,711,764 (GRCm39)	C237*	probably null	Het
Sun3	G	T	11: 8,979,394 (GRCm39)	D42E	probably benign	Het
Tgds	C	T	14: 118,365,626 (GRCm39)		probably benign	Het
Tnxb	G	A	17: 34,904,675 (GRCm39)	D1270N	probably damaging	Het
Vmn2r78	A	C	7: 86,569,520 (GRCm39)	T138P	possibly damaging	Het
Wdfy1	T	C	1: 79,685,182 (GRCm39)	I351V	probably benign	Het

Other mutations in Clcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Clcn1	APN	6	42,287,606 (GRCm39)	splice site	probably benign
IGL02055:Clcn1	APN	6	42,284,489 (GRCm39)	missense	probably damaging	1.00
IGL02507:Clcn1	APN	6	42,284,007 (GRCm39)	splice site	probably benign
IGL02649:Clcn1	APN	6	42,275,763 (GRCm39)	missense	probably damaging	1.00
IGL02739:Clcn1	APN	6	42,263,714 (GRCm39)	splice site	probably null
IGL03148:Clcn1	APN	6	42,276,925 (GRCm39)	critical splice donor site	probably null
IGL03190:Clcn1	APN	6	42,267,037 (GRCm39)	missense	probably benign	0.02
IGL03327:Clcn1	APN	6	42,288,153 (GRCm39)	missense	probably benign	0.00
IGL03346:Clcn1	APN	6	42,288,153 (GRCm39)	missense	probably benign	0.00
Faint	UTSW	6	42,284,199 (GRCm39)	missense	probably damaging	1.00
jack_spratt	UTSW	6	42,287,515 (GRCm39)	missense	probably benign
Limitations	UTSW	6	42,286,997 (GRCm39)	missense	possibly damaging	0.79
maimed	UTSW	6	42,275,754 (GRCm39)	missense	probably damaging	1.00
stunted	UTSW	6	42,263,701 (GRCm39)	start codon destroyed	possibly damaging	0.79
R0167:Clcn1	UTSW	6	42,263,770 (GRCm39)	missense	probably damaging	1.00
R0323:Clcn1	UTSW	6	42,287,074 (GRCm39)	missense	probably damaging	0.99
R0491:Clcn1	UTSW	6	42,287,515 (GRCm39)	missense	probably benign
R0573:Clcn1	UTSW	6	42,289,979 (GRCm39)	splice site	probably null
R0615:Clcn1	UTSW	6	42,282,509 (GRCm39)	missense	probably damaging	1.00
R0944:Clcn1	UTSW	6	42,290,075 (GRCm39)	missense	probably benign	0.00
R1562:Clcn1	UTSW	6	42,277,169 (GRCm39)	missense	probably benign	0.29
R1566:Clcn1	UTSW	6	42,268,374 (GRCm39)	missense	possibly damaging	0.58
R1692:Clcn1	UTSW	6	42,290,032 (GRCm39)	missense	possibly damaging	0.67
R1728:Clcn1	UTSW	6	42,276,448 (GRCm39)	missense	possibly damaging	0.86
R1729:Clcn1	UTSW	6	42,276,448 (GRCm39)	missense	possibly damaging	0.86
R1772:Clcn1	UTSW	6	42,271,079 (GRCm39)	missense	probably damaging	1.00
R1784:Clcn1	UTSW	6	42,276,448 (GRCm39)	missense	possibly damaging	0.86
R1793:Clcn1	UTSW	6	42,275,860 (GRCm39)	critical splice donor site	probably null
R1861:Clcn1	UTSW	6	42,290,925 (GRCm39)	missense	possibly damaging	0.63
R1864:Clcn1	UTSW	6	42,282,475 (GRCm39)	missense	probably damaging	1.00
R1865:Clcn1	UTSW	6	42,282,475 (GRCm39)	missense	probably damaging	1.00
R2356:Clcn1	UTSW	6	42,268,559 (GRCm39)	missense	probably damaging	1.00
R2403:Clcn1	UTSW	6	42,290,046 (GRCm39)	missense	probably damaging	0.99
R2987:Clcn1	UTSW	6	42,275,784 (GRCm39)	missense	probably damaging	1.00
R3082:Clcn1	UTSW	6	42,267,112 (GRCm39)	missense	probably damaging	0.98
R3500:Clcn1	UTSW	6	42,269,929 (GRCm39)	missense	probably damaging	0.99
R3747:Clcn1	UTSW	6	42,276,849 (GRCm39)	missense	probably damaging	1.00
R3748:Clcn1	UTSW	6	42,276,849 (GRCm39)	missense	probably damaging	1.00
R4041:Clcn1	UTSW	6	42,286,902 (GRCm39)	missense	probably damaging	1.00
R4749:Clcn1	UTSW	6	42,267,131 (GRCm39)	splice site	probably null
R4836:Clcn1	UTSW	6	42,286,898 (GRCm39)	missense	probably damaging	0.96
R5021:Clcn1	UTSW	6	42,287,922 (GRCm39)	nonsense	probably null
R5085:Clcn1	UTSW	6	42,290,814 (GRCm39)	missense	probably benign	0.41
R5528:Clcn1	UTSW	6	42,277,275 (GRCm39)	missense	probably benign	0.01
R5628:Clcn1	UTSW	6	42,275,823 (GRCm39)	missense	probably damaging	0.96
R5678:Clcn1	UTSW	6	42,284,199 (GRCm39)	missense	probably damaging	1.00
R5943:Clcn1	UTSW	6	42,269,900 (GRCm39)	missense	probably damaging	1.00
R6053:Clcn1	UTSW	6	42,277,208 (GRCm39)	nonsense	probably null
R6175:Clcn1	UTSW	6	42,291,096 (GRCm39)	missense	probably damaging	1.00
R6394:Clcn1	UTSW	6	42,290,172 (GRCm39)	missense	possibly damaging	0.82
R6394:Clcn1	UTSW	6	42,284,524 (GRCm39)	missense	possibly damaging	0.84
R7012:Clcn1	UTSW	6	42,267,542 (GRCm39)	missense	probably benign	0.01
R7020:Clcn1	UTSW	6	42,275,754 (GRCm39)	missense	probably damaging	1.00
R7048:Clcn1	UTSW	6	42,284,477 (GRCm39)	missense	probably damaging	1.00
R7212:Clcn1	UTSW	6	42,268,323 (GRCm39)	missense	possibly damaging	0.46
R7225:Clcn1	UTSW	6	42,270,396 (GRCm39)	missense	probably damaging	1.00
R7264:Clcn1	UTSW	6	42,275,772 (GRCm39)	missense	probably damaging	1.00
R7636:Clcn1	UTSW	6	42,268,268 (GRCm39)	nonsense	probably null
R7663:Clcn1	UTSW	6	42,286,997 (GRCm39)	missense	possibly damaging	0.79
R7807:Clcn1	UTSW	6	42,287,282 (GRCm39)	splice site	probably null
R7954:Clcn1	UTSW	6	42,263,625 (GRCm39)	unclassified	probably benign
R8026:Clcn1	UTSW	6	42,284,595 (GRCm39)	critical splice donor site	probably null
R8045:Clcn1	UTSW	6	42,267,628 (GRCm39)	missense	probably damaging	1.00
R8499:Clcn1	UTSW	6	42,284,133 (GRCm39)	missense	probably damaging	1.00
R8523:Clcn1	UTSW	6	42,284,523 (GRCm39)	nonsense	probably null
R8677:Clcn1	UTSW	6	42,267,519 (GRCm39)	critical splice acceptor site	probably null
R8818:Clcn1	UTSW	6	42,282,477 (GRCm39)	missense	probably damaging	0.98
R8945:Clcn1	UTSW	6	42,263,701 (GRCm39)	start codon destroyed	possibly damaging	0.79
R9012:Clcn1	UTSW	6	42,268,567 (GRCm39)	missense	possibly damaging	0.75
R9295:Clcn1	UTSW	6	42,290,883 (GRCm39)	missense	probably benign	0.00
R9433:Clcn1	UTSW	6	42,282,494 (GRCm39)	missense	probably damaging	1.00
R9513:Clcn1	UTSW	6	42,282,462 (GRCm39)	missense	probably damaging	1.00
R9679:Clcn1	UTSW	6	42,263,753 (GRCm39)	missense	probably damaging	0.98
Z1088:Clcn1	UTSW	6	42,284,190 (GRCm39)	missense	probably damaging	1.00
Z1088:Clcn1	UTSW	6	42,277,294 (GRCm39)	missense	probably benign	0.40
Z1176:Clcn1	UTSW	6	42,284,501 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-18