Mutagenetix > Incidental Mutations

Incidental Mutation 'R5869:Clcnka'

454318

Institutional Source

Beutler Lab

Gene Symbol

Clcnka

Ensembl Gene

ENSMUSG00000033770

Gene Name

chloride channel, voltage-sensitive Ka

Synonyms

CLC-K1, Clcnk1

MMRRC Submission

044077-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5869 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

141384610-141398724 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141394965 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 217 (F217L)

Ref Sequence

ENSEMBL: ENSMUSP00000101416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042617] [ENSMUST00000105790] [ENSMUST00000133676]

Predicted Effect

probably benign
Transcript: ENSMUST00000042617
AA Change: F217L

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000048520
Gene: ENSMUSG00000033770
AA Change: F217L

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:Voltage_CLC	102	514	2.1e-69	PFAM
CBS	554	604	6.54e-6	SMART
Pfam:CBS	623	679	5.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105790
AA Change: F217L

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101416
Gene: ENSMUSG00000033770
AA Change: F217L

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:Voltage_CLC	101	514	3.1e-75	PFAM
CBS	554	604	6.54e-6	SMART
Blast:CBS	629	678	1e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000133676

SMART Domains

Protein: ENSMUSP00000122396
Gene: ENSMUSG00000033770

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:Voltage_CLC	101	191	1.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150334

Meta Mutation Damage Score

0.1176

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

MGI Phenotype

FUNCTION: This gene is a member of the CLC family of voltage-gated chloride channels. The gene is located adjacent to a highly similar chloride channel gene on chromosome 4. This gene is syntenic with human CLCNKB (geneID:1188). Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in increased urine volume and decreased urine osmolarity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,616		probably benign	Het
Arsk	T	C	13: 76,091,784	E100G	probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Aspscr1	T	C	11: 120,688,920	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,940		probably benign	Het
Calm5	T	A	13: 3,854,321		probably benign	Het
Car5a	G	A	8: 121,916,380	T295I	probably benign	Het
Ccdc174	T	A	6: 91,885,418		probably benign	Het
Celsr2	G	A	3: 108,413,909	A529V	probably damaging	Het
Cep192	A	G	18: 67,815,864	D252G	probably benign	Het
Cnot3	A	T	7: 3,644,930		probably benign	Het
Coro1c	A	G	5: 113,850,846		probably benign	Het
Cstf3	A	G	2: 104,659,240		probably null	Het
Dcdc2a	C	T	13: 25,107,730	P233S	probably benign	Het
Ddx55	A	G	5: 124,568,682	T581A	probably benign	Het
Exo1	T	C	1: 175,901,283	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,029,430	E616G	possibly damaging	Het
Fignl2	T	C	15: 101,053,280	S374G	unknown	Het
Gm4799	A	T	10: 82,954,449		noncoding transcript	Het
Hectd4	T	C	5: 121,343,225		probably null	Het
Ighv1-76	T	C	12: 115,848,038	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,323,235	H465Q	probably benign	Het
Itga9	A	G	9: 118,663,889	D284G	probably damaging	Het
Itpr1	T	C	6: 108,473,529	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,188,071	S185P	probably benign	Het
Kif20a	G	A	18: 34,632,415	A822T	probably benign	Het
Krt1	A	T	15: 101,850,131	F199L	probably damaging	Het
Lpin2	A	G	17: 71,232,276		probably benign	Het
Lrp1b	A	C	2: 41,004,603	D2204E	probably damaging	Het
Mier3	T	A	13: 111,714,850	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446		probably benign	Het
Mroh3	T	A	1: 136,186,123	M643L	probably benign	Het
Myh11	A	G	16: 14,230,800	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,808,523	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,548,134	R179Q	probably damaging	Het
Nup88	T	C	11: 70,969,671	E94G	probably benign	Het
Pias1	A	T	9: 62,912,766	D306E	probably benign	Het
Pick1	A	G	15: 79,248,895	D385G	probably benign	Het
Pitx3	A	T	19: 46,137,296		probably benign	Het
Plpp3	T	A	4: 105,194,962		probably null	Het
Prlhr	C	A	19: 60,467,621	R169L	probably damaging	Het
Ptprf	A	C	4: 118,210,382	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,601,940	D35G	probably benign	Het
Rnf130	A	G	11: 50,085,815		probably null	Het
Rnf17	A	C	14: 56,505,988	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,851,882	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,498,117	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,684,459	V855G	probably benign	Het
Slc5a5	C	A	8: 70,892,330	R111L	probably damaging	Het
Spg20	A	T	3: 55,135,510	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,687	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,266,562	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 154,926,598		probably null	Het
Tnfrsf19	C	T	14: 60,971,178	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,958,792	K809E	probably benign	Het
Ttn	G	A	2: 76,750,209	P23447S	probably damaging	Het
Uap1	T	A	1: 170,151,138		probably null	Het
Wdr82	A	G	9: 106,185,304	Q252R	probably benign	Het
Zfp523	T	C	17: 28,194,993	I34T	probably benign	Het
Zfp808	T	A	13: 62,171,255	H99Q	probably damaging	Het

Other mutations in Clcnka

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Clcnka	APN	4	141391401	nonsense	probably null
IGL01420:Clcnka	APN	4	141389332	missense	probably benign	0.00
IGL01726:Clcnka	APN	4	141392740	critical splice donor site	probably null
IGL02676:Clcnka	APN	4	141392783	missense	probably damaging	0.97
IGL02983:Clcnka	APN	4	141390131	missense	probably damaging	0.99
IGL03182:Clcnka	APN	4	141394487	missense	probably damaging	1.00
free_trade	UTSW	4	141395158	nonsense	probably null
R0646:Clcnka	UTSW	4	141396606	missense	probably benign
R1292:Clcnka	UTSW	4	141395592	splice site	probably benign
R1479:Clcnka	UTSW	4	141389447	missense	possibly damaging	0.82
R1864:Clcnka	UTSW	4	141392802	missense	probably damaging	0.99
R3806:Clcnka	UTSW	4	141387290	missense	probably null	0.05
R5035:Clcnka	UTSW	4	141395158	nonsense	probably null
R5617:Clcnka	UTSW	4	141389317	missense	probably null	0.01
R6048:Clcnka	UTSW	4	141394487	missense	probably damaging	1.00
R7042:Clcnka	UTSW	4	141391380	missense	probably damaging	0.97
R7068:Clcnka	UTSW	4	141387110	missense	probably damaging	0.99
R8016:Clcnka	UTSW	4	141390152	missense	possibly damaging	0.85
R8292:Clcnka	UTSW	4	141397961	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCAAAGAAAGTCTACAGCGATTGG -3'
(R):5'- ATTTCTGCTTATCTGGGCCG -3'

Sequencing Primer
(F):5'- TCTACAGCGATTGGACAGC -3'
(R):5'- TTATCTGGGCCGCGTGC -3'

Posted On

2017-02-10