Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03148:Clcn1'

410992

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 #

IGL03148

Quality Score

Status

Chromosome

Chromosomal Location

42263619-42292690 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 42276925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q64347

Predicted Effect

probably null
Transcript: ENSMUST00000031894

SMART Domains

Protein: ENSMUSP00000031894
Gene: ENSMUSG00000029862

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

noncoding transcript
Transcript: ENSMUST00000114684

SMART Domains

Protein: ENSMUSP00000110332
Gene: ENSMUSG00000029862

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	3	254	2.6e-42	PFAM
CBS	294	344	1.3e1	SMART
low complexity region	405	429	N/A	INTRINSIC
Blast:CBS	480	524	2e-13	BLAST
low complexity region	575	597	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000163936

SMART Domains

Protein: ENSMUSP00000130148
Gene: ENSMUSG00000029862

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 benign
Transcript: ENSMUST00000164091

SMART Domains

Protein: ENSMUSP00000131354
Gene: ENSMUSG00000029862

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

probably benign
Transcript: ENSMUST00000165780

SMART Domains

Protein: ENSMUSP00000130550
Gene: ENSMUSG00000029862

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 benign
Transcript: ENSMUST00000168660

SMART Domains

Protein: ENSMUSP00000126045
Gene: ENSMUSG00000029862

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

probably benign
Transcript: ENSMUST00000169024

SMART Domains

Protein: ENSMUSP00000130968
Gene: ENSMUSG00000029862

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

probably benign
Transcript: ENSMUST00000170028

SMART Domains

Protein: ENSMUSP00000132154
Gene: ENSMUSG00000029862

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	G	11: 99,728,079 (GRCm39)	S255P	unknown	Het
Adamtsl2	T	A	2: 26,974,071 (GRCm39)	Y125N	probably damaging	Het
Ankrd9	T	C	12: 110,943,293 (GRCm39)	E214G	probably benign	Het
Bhmt2	T	A	13: 93,803,161 (GRCm39)	D124V	possibly damaging	Het
Ccdc150	A	G	1: 54,317,874 (GRCm39)	H271R	possibly damaging	Het
Col6a3	T	A	1: 90,755,588 (GRCm39)	I234F	probably benign	Het
Cpa5	T	A	6: 30,630,436 (GRCm39)	M330K	probably damaging	Het
Csmd2	G	A	4: 128,278,062 (GRCm39)	C995Y	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,144 (GRCm39)	E252G	probably damaging	Het
Dhrs1	A	T	14: 55,978,748 (GRCm39)	Y133*	probably null	Het
Dnaaf10	G	A	11: 17,179,845 (GRCm39)	G282E	probably damaging	Het
Dock10	T	C	1: 80,518,075 (GRCm39)	I1300V	probably benign	Het
Efcab12	T	C	6: 115,787,952 (GRCm39)	Y670C	probably damaging	Het
Frg1	T	G	8: 41,864,321 (GRCm39)	K66N	probably benign	Het
Gbp2b	C	A	3: 142,312,642 (GRCm39)	H342N	probably benign	Het
Gria4	T	A	9: 4,464,295 (GRCm39)	I556F	possibly damaging	Het
Kcnh1	T	G	1: 191,959,307 (GRCm39)	I287S	probably damaging	Het
Map1b	A	G	13: 99,578,203 (GRCm39)	L150P	probably damaging	Het
Map3k4	C	T	17: 12,457,045 (GRCm39)	R1299Q	probably benign	Het
Mapk10	T	C	5: 103,073,971 (GRCm39)	N407D	probably damaging	Het
Mcemp1	T	A	8: 3,717,390 (GRCm39)		probably null	Het
Nav1	A	C	1: 135,397,762 (GRCm39)	N802K	possibly damaging	Het
Pcdhb2	T	A	18: 37,429,831 (GRCm39)	N601K	probably damaging	Het
Pi4ka	T	A	16: 17,172,053 (GRCm39)	H564L	probably damaging	Het
Pnp	T	A	14: 51,188,185 (GRCm39)		probably benign	Het
Ppp2r2a	G	T	14: 67,259,744 (GRCm39)	N317K	probably benign	Het
Pramel47	A	G	5: 95,489,177 (GRCm39)	T207A	possibly damaging	Het
Rars2	A	T	4: 34,650,243 (GRCm39)	I343F	possibly damaging	Het
Rnf213	T	C	11: 119,355,833 (GRCm39)	F4092S	probably damaging	Het
Tcp11	A	G	17: 28,289,444 (GRCm39)	V209A	possibly damaging	Het
Tet2	T	C	3: 133,187,124 (GRCm39)	S1102G	probably benign	Het

Other mutations in Clcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Clcn1	APN	6	42,268,637 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02